Publikationen

A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family
Akram R, Anwar H, Muzaffar H, Turchetti V, Lau T, Vona B, Makhdoom EUH, Iqbal J, Mahmood Baig S, Hussain G, Efthymiou S, Houlden H
Genes (Basel). 2024 Sep 13;15(9):1203. doi: 10.3390/genes15091203.

Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis
Alerasool M, Eslahi A, Vona B, Kahaei MS, Mojaver NK, Rajati M, Pasdar A, Ghasemi MM, Saburi E, Ardehaie RM, Aval MH, Tale MR, Nourizadeh N, Afzalzadeh MR, Niknezhad HT, Mojarrad M
Clin Genet 2024 Aug 6. doi: 10.1111/cge.14599. Epub ahead of print.

Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects
Berger H, Gerstner S, Horstmann MF, Pauli S, Borchers A
Dis Model Mech 2024 Mar 19:dmm.050507. doi: 10.1242/dmm.050507. Epub ahead of print.

Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome
Busley AV, Gutiérrez-Gutiérrez Ó, Hammer E, Koitka F, Mirzaiebadizi A, Steinegger M, Pape C, Böhmer L, Schroeder H, Kleinsorge M, Engler M, Cirstea IC, Gremer L, Willbold D, Altmüller J, Marbach F, Hasenfuss G, Zimmermann WH, Ahmadian MR, Wollnik B, Cyganek L
Cell Rep 2024 Jul 13;43(7):114448. doi: 10.1016/j.celrep.2024.114448. Epub ahead of print.

Targeting TGF-β signaling, oxidative stress, and cellular senescence rescues osteoporosis in gerodermia osteodysplastica
Chan WL, Bucher CH, Goldes J, Ma AC, Steiner M, Willie BM, Mundlos S, Kornak U
Aging Cell 2024 Sep 5:e14322. doi: 10.1111/acel.14322. Epub ahead of print.

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da’as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H
Nat Commun 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0.

Ca2+-binding to the C2E domain of otoferlin is required for hair cell exocytosis and hearing
Chen H, Monga M, Fang Q, Slitin L, Neef J, Chepurwar SS, Mingroni Netto RC, Lezirovitz K, Tabith A Jr, Benseler F, Brose N, Kusch K, Wichmann C, Strenzke N, Vona B, Preobraschenski J, Moser T
Protein Cell 2024 Apr 1;15(4):305-312. doi: 10.1093/procel/pwad058.

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H, Samarut É, Nichols CG, Smeland MF, McClenaghan C
Brain 2024 Jan 13:awae010. doi: 10.1093/brain/awae010. Online ahead of print.

A burden shared: The evolutionary case for studying human deafness in Drosophila
Guan C, Shaikh M, Warnecke A, Vona B, Albert JT
Hear Res. 2024 Jun 15;450:109047. doi: 10.1016/j.heares.2024.109047. Epub ahead of print.

An NFATc1/SMAD3/cJUN Complex Restricted to SMAD4-Deficient Pancreatic Cancer Guides Rational Therapies
Hasselluhn MC, Schlösser D, Versemann L, Schmidt GE, Ulisse M, Oschwald J, Zhang Z, Hamdan F, Xiao H, Kopp W, Spitalieri J, Kellner C, Schneider C, Reutlinger K, Nagarajan S, Steuber B, Sastra SA, Palermo CF, Appelhans J, Bohnenberger H, Todorovic J, Kostyuchek I, Ströbel P, Bockelmann A, König A, Ammer-Herrmenau C, Schmidleitner L, Kaulfuß S, Wollnik B, Hahn SA, Neesse A, Singh SK, Bastians H, Reichert M, Sax U, Olive KP, Johnsen SA, Schneider G, Ellenrieder V, Hessmann E
Gastroenterology 2024 Feb;166(2):298-312.e14. doi: 10.1053/j.gastro.2023.10.026. Epub 2023 Oct 31.

Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias
Kakar N, Rehman FU, Kaur R, Bhavani GS, Goyal M, Shah H, Kaur K, Sodhi KS, Kubisch C, Borck G, Panigrahi I, Girisha KM, Kornak U, Spielmann M
Clin Genet 2024 Feb 20. doi: 10.1111/cge.14509. Epub ahead of print.

Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants
Knauer C, Haltern H, Schoger E, Kügler S, Roos L, Zelarayán LC, Hasenfuss G, Zimmermann WH, Wollnik B, Cyganek L
Mol Ther Nucleic Acids 2024 Jan 23;35(1):102123. doi: 10.1016/j.omtn.2024.102123.

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome
Koparir A, Lekszas C, Keseroglu K, Rose T, Rappl L, Rad A, Maroofian R, Narendran N, Hasanzadeh A, Karimiani EG, Boschann F, Kornak U, Klopocki E, Özbudak EM, Vona B, Haaf T, Liedtke D
Hum Genomics 2024 Mar 6;18(1):23. doi: 10.1186/s40246-024-00593-w.

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy
Kopp J, Koch LA, Lyubenova H, Küchler O, Holtgrewe M, Ivanov A, Dubourg C, Launay E, Brachs S, Mundlos S, Ehmke N, Seelow D, Fradin M, Kornak U, Fischer-Zirnsak B
Hum Genet 2024 Apr 9. doi: 10.1007/s00439-024-02669-y. Epub ahead of print.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O’Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia Moya L, García-Miñaúr S, Osmond M, Chad L, Quercia N, Carrasco D, Li C, Sanchez-Valle A, Kelley M, Nizon M, Jensson BO, Sulem P, Stefansson K, Gorokhova S, Busa T, Rio M, Hadj Habdallah H, Lesieur-Sebellin M, Amiel J, Pingault V, Mercier S, Vincent M, Philippe C, Fatus-Fauconnier C, Friend K, Halligan RK, Biswas S, Rosser J, Shoubridge C, Corbett M, Barnett C, Gecz J, Leppig K, Slavotinek A, Marcelis C, Pfundt R, de Vries BB, van Slegtenhorst MA, Brooks AS, Cogne B, Rambaud T, Tümer Z, Zackai EH, Akizu N, Song Y, Hakonarson H
J Clin Invest 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235.

METTL3-dependent m6A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/β-catenin signaling pathway
Ma L, Zhou X, Yao S, Zhang X, Mao J, Vona B, Fan L, Lou S, Li D, Wang L, Pan Y
Cell Death Dis 2024 Mar 20;15(3):229. doi: 10.1038/s41419-024-06606-9.

Biallelic variants in SLC4A10 encoding the sodium-dependent chloride-bicarbonate exchanger NCBE lead to a neurodevelopmental disorder
Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Ghayoor Karimiani E, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Beiraghi Toosi M, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden H, Hübner CA
Genet Med 2024 Mar;26(3):101034. doi: 10.1016/j.gim.2023.101034.

Generation of a pluripotent stem cell line (UMGi270-A) and a corresponding CRISPR/Cas9 modified isogenic control (UMGi270-A-1) from a patient with sudden onset dilated cardiomyopathy harboring a FLNC p.R2187P mutation
Maurer W, Rebs S, Köhne S, Eberl H, Wollnik B, Zibat A, Streckfuss-Bömeke K
Stem Cell Res 2024 Mar 29;77:103409. doi: 10.1016/j.scr.2024.103409. Epub ahead of print.

Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss
Mendia C, Peineau T, Zamani M, Felgerolle C, Yahiaoui N, Christophersen N, Papal S, Maudoux A, Maroofian R, Patni P, Nouaille S, Bowl MR, Delmaghani S, Galehdari H, Vona B, Dulon D, Vitry S, El-Amraoui A
Mol Ther 2024 Mar 6;32(3):800-817. doi: 10.1016/j.ymthe.2024.01.021.

Gene therapy for deafness: are we there now?
Moser T, Chen H, Kusch K, Behr R, Vona B
EMBO Mol Med 2024 Apr;16(4):675-677. doi: 10.1038/s44321-024-00058-6. Epub 2024 Mar 25.

An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders
Ni C, Yu L, Vona B, Park D, Wei Y, Schmitz DA, Wei Y, Ding Y, Sakurai M, Ballard E, Liu Y, Kumar A, Xing C, Kim HG, Ekmekci C, Karimiani EG, Imannezhad S, Eghbal F, Badv RS, Schwaibold EMC, Dehghani M, Mehrjardi MYV, Metanat Z, Eslamiyeh H, Khouj E, Alhajj SMN, Chedrawi A, Alves CAPF, Houlden H, Kruer M, Alkuraya FS, Cenik C, Maroofian R, Wu J, Buszczak M
bioRxiv [Preprint] 2024 Jan 9:2024.01.09.574708. doi: 10.1101/2024.01.09.574708.

3D Super-Resolution Nuclear Q-FISH Imaging Reveals Cell-Cycle-Related Telomere Changes
Pochechueva TV, Schwenzer N, Kohl T, Brandenburg S, Kaltenecker G, Wollnik B, Lehnart SE
Int J Mol Sci 2024 Mar 10;25(6):3183. doi: 10.3390/ijms25063183.

Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease
Priglinger CS, Gerhardt MJ, Priglinger SG, Schaumberger M, Neuhann TM, Bolz HJ, Mehraein Y, Rudolph G
Int J Mol Sci. 2024 Nov 14;25(22):12259. doi: 10.3390/ijms252212259.

Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature
Rad A, Bartsch O, Bakhtiari S, Zhu C, Xu Y, Monteiro FP, Kok F, Vulto-van Silfhout AT, Kruer MC, Bowl MR, Vona B
Clin Genet. 2024 Jun 10. doi: 10.1111/cge.14563. Epub ahead of print.

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
Ramzan M, Zafeer MF, Abad C, Guo S, Owrang D, Alper O, Mutlu A, Atik T, Duman D, Bademci G, Vona B, Kalcioglu MT, Walz K, Tekin M
Eur J Hum Genet 2024 Feb 19. doi: 10.1038/s41431-024-01562-6. Epub ahead of print.

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder
Rawlins LE, Maroofian R, Cannon SJ, Daana M, Zamani M, Ghani S, Leslie JS, Ubeyratna N, Khan N, Khan H, Scardamaglia A, Cloarec R, Khan SA, Umair M, Sadeghian S, Galehdari H, Al-Maawali A, Al-Kindi A, Azizimalamiri R, Shariati G, Ahmad F, Al-Futaisi A, Rodriguez Cruz PM, Salazar-Villacorta A, Ndiaye M, Diop AG, Sedaghat A, Saberi A, Hamid M, Zaki MS, Vona B, Owrang D, Alhashem AM, Obeid M, Khan A, Beydoun A, Najjar M, Tajsharghi H, Zifarelli G, Bauer P, Hakami WS, Hashem AMA, Boustany RN, Burglen L, Alavi S, Gunning AC, Owens M, Karimiani EG, Gleeson JG, Milh M, Salah S, Khan J, Haucke V, Wright CF, McGavin L, Elpeleg O, Shabbir MI, Houlden H, Ebner M, Baple EL, Crosby AH
Genet Med. 2024 Sep 20:101278. doi: 10.1016/j.gim.2024.101278. Epub ahead of print.

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss
Redfield SE, De-la-Torre P, Zamani M, Wang H, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B
Hum Genet 2024 Mar 9. doi: 10.1007/s00439-024-02649-2. Epub ahead of print.

Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes
Schmidt J, Kaulfuß S, Ott H, Gaubert M, Reintjes N, Bremmer F, Dreha-Kulaczewski S, Stroebel P, Yigit G, Wollnik B
Hum Genet 2024 Jan 24. doi: 10.1007/s00439-023-02634-1. Epub ahead of print

Association of antenatal evaluations with postmortem and genetic findings in the series of fetal osteogenesis imperfecta
Senturk L, Gulec C, Sarac Sivrikoz T, Kayserili H, Kalelioglu IH, Avci S, Has R, Coucke P, Kalayci T, Wollnik B, Karaman B, Toksoy G, Symoens S, Yigit G, Yuksel A, Basaran S, Tuysuz B, Altunoglu U, Uyguner ZO
Fetal Diagn Ther 2024 Feb 12. doi: 10.1159/000536324. Epub ahead of print.

Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades
Shadab M, Abbasi AA, Ejaz A, Ben-Mahmoud A, Gupta V, Kim HG, Vona B
J Cell Mol Med 2024 Apr;28(8):e18119. doi: 10.1111/jcmm.18119.

Functional characterization of PI3K C2 domain mutations detected in breast cancer circulating tumor cells and metastatic cells
Smit DJ, Brauer H, Horn S, Yigit G, Haider MT, Pogenberg V, Schumacher U, Pantel K, Jücker M
Cell Signal 2024 Jun 21;121:111270. doi: 10.1016/j.cellsig.2024.111270. Epub ahead of print.

KRASG12C-inhibitor-based combination therapies for pancreatic cancer: insights from drug screening
Tapia Contreras C, Falke JD, Seifert DM, Schneider C, Krauß L, Fang X, Müller D, Demirdizen E, Spitzner M, De Oliveira T, Schneeweis C, Gaedcke J, Kaulfuß S, Mirzakhani K, Wollnik B, Conrads K, Beißbarth T, Salinas G, Hügel J, Beyer N, Rheinländer S, Sax U, Wirth M, Conradi LC, Reichert M, Ellenrieder V, Ströbel P, Ghadimi M, Grade M, Saur D, Hessmann E, Schneider G
Mol Oncol 2024 Sep 10. doi: 10.1002/1878-0261.13725. Epub ahead of print.

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly
Uctepe E, Vona B, Esen FN, Sonmez FM, Smol T, Tümer S, Mancılar H, Geylan Durgun DE, Boute O, Moghbeli M, Ghayoor Karimiani E, Hashemi N, Bakhshoodeh B, Kim HG, Maroofian R, Yesilyurt A
Eur J Hum Genet 2024 Jan;32(1):52-60. doi: 10.1038/s41431-023-01461-2.

Rethinking non-syndromic hearing loss and its mimics in the genomic era
Vona B
Eur J Hum Genet 2024 Mar 6. doi: 10.1038/s41431-024-01579-x. Epub ahead of print.

Catching up but still miles behind-a patient registry for otoferlin
Vona B, Wollnik B, Strenzke N, Moser T
Exp Mol Med. 2024 Jun 3. doi: 10.1038/s12276-024-01247-6. Epub ahead of print.

Calculating future 10-year breast cancer risks in risk-adapted surveillance: A method comparison and application in clinical practice
Zachariae S, Quante AS, Kiechle M, Rhiem K, Fehm TN, Schröder JG, Horvath J, Leinert E, Dikow N, Ronez J, Schönfeld M, van Mackelenbergh MT, Schatz UA, Meisel C, Aktas B, Witt D, Mehraein Y, Weber BHF, Solbach C, Speiser D, Hoyer J, Faigle-Krehl G, Much CD, Mueller-Rausch AV, Villavicencio-Lorini P, Banys-Paluchowski M, Pieh D, Schmutzler RK, Fischer C, Engel C
Cancer Prev Res (Phila). 2024 Nov 22. doi: 10.1158/1940-6207.CAPR-24-0328. Online ahead of print.

Comprehensive identification of gene expression fingerprints and biomarkers of sexual endocrine disruption in zebrafish embryo
Ayobahan SU, Alvincz J, Reinwald H, Strompen J, Salinas G, Schäfers C, Eilebrecht E, Eilebrecht S
Ecotoxicol Environ Saf 2023 Jan 15;250:114514. doi: 10.1016/j.ecoenv.2023.114514. Epub 2023 Jan 4.

Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing
Baalmann N, Spielmann M, Gillessen-Kaesbach G, Hanker B, Schmidt J, Lill CM, Hellenbroich Y, Greiten B, Lohmann K, Trinh J, Hüning I
Eur J Med Genet 2023 Apr 27:104774. doi: 10.1016/j.ejmg.2023.104774. Epub ahead of print.

B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum
Coetzer KC, Dieckerhoff J, Wollnik B, Moosa S
Eur J Med Genet 2023 Aug 30;66(10):104829. doi: 10.1016/j.ejmg.2023.104829.

Combining ferroptosis induction with MDSC blockade renders primary tumours and metastases in liver sensitive to immune checkpoint blockade
Conche C, Finkelmeier F, Pešić M, Nicolas AM, Böttger TW, Kennel KB, Denk D, Ceteci F, Mohs K, Engel E, Canli Ö, Dabiri Y, Peiffer KH, Zeuzem S, Salinas G, Longerich T, Yang H, Greten FR
Gut 2023 Jan 27:gutjnl-2022-327909. doi: 10.1136/gutjnl-2022-327909. Online ahead of print.

mRNA Abundance of Neurogenic Factors Correlates with Hearing Capacity in Auditory Brainstem Nuclei of the Rat
Engert J, Doll J, Vona B, Ehret Kasemo T, Spahn B, Hagen R, Rak K, Voelker J
Life (Basel) 2023 Sep 2;13(9):1858. doi: 10.3390/life13091858.

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
Guo L, Salian S, Xue JY, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, Clayton-Smith J, Wang J, Wang Z, Banka S, Jackson A, Zhang YM, Wei ZJ, Hüning I, Brunet T, Ohashi H, Thomas MF, Bupp C, Miyake N, Matsumoto N, Mendoza-Londono R, Costain G, Hahn G, Di Donato N, Yigit G, Yamada T, Nishimura G, Ansel KM, Wollnik B, Hrabě de Angelis M, Mégarbané A, Rosenfeld JA, Heissmeyer V, Ikegawa S, Campeau PM
Am J Hum Genet 2023 Jun 20:S0002-9297(23)00202-1. doi: 10.1016/j.ajhg.2023.06.001. Epub ahead of print.

Single-cell transcriptomics identifies new blood cell populations in Drosophila released at the onset of metamorphosis
Hirschhäuser A, Molitor D, Salinas G, Großhans J, Rust K, Bogdan S
Development 2023 Sep 7:dev.201767. doi: 10.1242/dev.201767. Epub ahead of print.

The enhancer landscape predetermines the skeletal regeneration capacity of stromal cells
Hochmann S, Ou K, Poupardin R, Mittermeir M, Textor M, Ali S, Wolf M, Ellinghaus A, Jacobi D, Elmiger JAJ, Donsante S, Riminucci M, Schäfer R, Kornak U, Klein O, Schallmoser K, Schmidt-Bleek K, Duda GN, Polansky JK, Geissler S, Strunk D
Sci Transl Med 2023 Mar 22;15(688):eabm7477. doi: 10.1126/scitranslmed.abm7477. Epub 2023 Mar 22.

Single-cell, whole-embryo phenotyping of mammalian developmental disorders
Huang X, Henck J, Qiu C, Sreenivasan VKA, Balachandran S, Amarie OV, Hrabě de Angelis M, Behncke RY, Chan WL, Despang A, Dickel DE, Duran M, Feuchtinger A, Fuchs H, Gailus-Durner V, Haag N, Hägerling R, Hansmeier N, Hennig F, Marshall C, Rajderkar S, Ringel A, Robson M, Saunders LM, da Silva-Buttkus P, Spielmann N, Srivatsan SR, Ulferts S, Wittler L, Zhu Y, Kalscheuer VM, Ibrahim DM, Kurth I, Kornak U, Visel A, Pennacchio LA, Beier DR, Trapnell C, Cao J, Shendure J, Spielmann M
Nature 2023 Nov 15. doi: 10.1038/s41586-023-06548-w. Epub ahead of print.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Ghayoor Karimiani E, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Akay Tayfun G, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Bahrami Monajemi G, Mohammadi P, Samie S, Banu SH, Basto JP, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Hameed Issa A, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R
Brain 2023 Nov 10:awad380. doi: 10.1093/brain/awad380. Epub ahead of print.

Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings
Kalay I, Aykut H, Caliskan Z, Yigit G, Wollnik B
Mol Genet Metab Rep 2023 Nov 16;37:101022. doi: 10.1016/j.ymgmr.2023.101022.

Elastin stabilization prevents impaired biomechanics in human pulmonary arteries and pulmonary hypertension in rats with left heart disease
Kucherenko MM, Sang P, Yao J, Gransar T, Dhital S, Grune J, Simmons S, Michalick L, Wulsten D, Thiele M, Shomroni O, Hennig F, Yeter R, Solowjowa N, Salinas G, Duda GN, Falk V, Vyavahare NR, Kuebler WM, Knosalla C
Nat Commun 2023 Jul 21;14(1):4416. doi: 10.1038/s41467-023-39934-z.

Surveillance of 3′ mRNA cleavage during transcription termination requires CF IB/Hrp1
Li J, Querl L, Coban I, Salinas G, Krebber H
Nucleic Acids Res 2023 Sep 8;51(16):8758-8773. doi: 10.1093/nar/gkad530.

Concurrent Activation of Both Survival-Promoting and Death-Inducing Signaling by Chloroquine in Glioblastoma Stem Cells: Implications for Potential Risks and Benefits of Using Chloroquine as Radiosensitizer
Müller A, Weyerhäuser P, Berte N, Jonin F, Lyubarskyy B, Sprang B, Kantelhardt SR, Salinas G, Opitz L, Schulz-Schaeffer W, Giese A, Kim EL
Cells 2023 Apr 30;12(9):1290. doi: 10.3390/cells12091290.

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
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Genome Med 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0.

Not to miss: Intronic variants, treatment, and review of the phenotypic spectrum in VPS13D-related disorder
Pauly MG, Brüggemann N, Efthymiou S, Grözinger A, Diaw SH, Chelban V, Turchetti V, Vona B, Tadic V, Houlden H, Münchau A, Lohmann K
Int J Mol Sci 2023 23(3):1874. doi.org/10.3390/ijms24031874.

PKHD1L1, A Gene Involved in the Stereociliary Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss
Redfield SE, De-la-Torre P, Zamani M, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B
medRxiv [Preprint] 2023 Oct 9:2023.10.08.23296081. doi: 10.1101/2023.10.08.23296081.

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
Saadi SM, Cali E, Khalid LB, Yousaf H, Zafar G, Khan HN, Sher M, Vona B, Abdullah U, Malik NA, Klar J, Efthymiou S, Dahl N, Houlden H, Toft M, Baig SM, Fatima A, Iqbal Z
Genes (Basel). 2023 Jul 6;14(7):1404. doi: 10.3390/genes14071404.

Prognostic factor identification by screening changes in differentially expressed genes in oral squamous cell carcinoma
Schminke B, Shomroni O, Salinas G, Bremmer F, Kauffmann P, Schliephake H, Oyelami F, Rahat MA, Brockmeyer P
Oral Dis 2023 Jan;29(1):116-127. doi: 10.1111/odi.13879. Epub 2021 May 5.

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G
Hum Genet 2023 Mar 21. doi: 10.1007/s00439-023-02528-2. Epub ahead of print.

Single-cell transcriptomics reveal extracellular vesicles secretion with a cardiomyocyte proteostasis signature during pathological remodeling
Schoger E, Bleckwedel F, Germena G, Rocha C, Tucholla P, Sobitov I, Möbius W, Sitte M, Lenz C, Samak M, Hinkel R, Varga ZV, Giricz Z, Salinas G, Gross JC, Zelarayán LC
Commun Biol 2023 Jan 21;6(1):79. doi: 10.1038/s42003-022-04402-9.

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
Schröder S, Yigit G, Li Y, Altmüller J, Büttel HM, Fiedler B, Kretzschmar C, Nürnberg P, Seeger J, Serpieri V, Valente EM, Wollnik B, Boltshauser E, Brockmann K
Orphanet J Rare Dis 2023 May 2;18(1):101. doi: 10.1186/s13023-023-02706-5.

The challenges of research data management in cardiovascular science: a DGK and DZHK position paper-executive summary
Steffens S, Schröder K, Krüger M, Maack C, Streckfuss-Bömeke K, Backs J, Backofen R, Baeßler B, Devaux Y, Gilsbach R, Heijman J, Knaus J, Kramann R, Linz D, Lister AL, Maatz H, Maegdefessel L, Mayr M, Meder B, Nussbeck SY, Rog-Zielinska EA, Schulz MH, Sickmann A, Yigit G, Kohl P
Clin Res Cardiol 2023 Oct 17. doi: 10.1007/s00392-023-02303-3. Epub ahead of print.

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia
Terhal P, Venhuizen AJ, Lessel D, Tan WH, Alswaid A, Grün R, Alzaidan HI, von Kroge S, Ragab N, Hempel M, Kubisch C, Novais E, Cristobal A, Tripolszki K, Bauer P, Fischer-Zirnsak B, Nievelstein RAJ, van Dijk A, Nikkels P, Oheim R, Hahn H, Bertoli-Avella A, Maurice MM, Kornak U
Am J Hum Genet 2023 Aug 9:S0002-9297(23)00251-3. doi: 10.1016/j.ajhg.2023.07.011. Epub ahead of print.

An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey
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Eur J Hum Genet 2023 [Online ahead of print]. doi: 10.1038/s41431-023-01285-0.

Unraveling haplotype errors in the DFNA33 locus
Vona B, Regele S, Rad A, Strenzke N, Pater JA, Neumann K, Sturm M, Haack TB, Am Zehnhoff-Dinnesen AG
Front Genet 2023 Aug 21;14:1214736. doi: 10.3389/fgene.2023.1214736.

Blood T Helper Memory Cells: A Tool for Studying Skin Inflammation in HS?
Witte K, Schneider-Burrus S, Salinas G, Mössner R, Ghoreschi K, Wolk K, Sabat R
Int J Mol Sci 2023 May 16;24(10):8854. doi: 10.3390/ijms24108854.

FGFR1 variants contributed to families with tooth agenesis
Yao S, Zhou X, Gu M, Zhang C, Bartsch O, Vona B, Fan L, Ma L, Pan Y
Hum Genomics 2023 Oct 13;17(1):93. doi: 10.1186/s40246-023-00539-8.

N4-hydroxycytidine, the active compound of Molnupiravir, promotes SARS-CoV-2 mutagenesis and escape from a neutralizing nanobody
Zibat A, Zhang X, Dickmanns A, Stegmann KM, Dobbelstein AW, Alachram H, Soliwoda R, Salinas G, Groß U, Görlich D, Kschischo M, Wollnik B, Dobbelstein M
iScience 2023 Aug 30;26(10):107786. doi: 10.1016/j.isci.2023.107786.

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the Guanine Exchange Domain
Averdunk L, Al-Thihli K, Surowy H, Lüdecke HJ, Drechsler M, Yigit G, Smorag L, Hallak BA, Li Y, Altmüller J, Guthoff T, Wallot M, Nürnberg P, Wollnik B, Abou Jamra R, Al-Maawali A, Wieczorek D
Clin Genet. 2022 Dec 28. doi: 10.1111/cge.14290. Epub ahead of print.

WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly
Bögershausen N, Krawczyk HE, Jamra RA, Lin SJ, Yigit G, Hüning I, Polo AM, Vona B, Huang K, Schmidt J, Altmüller J, Luppe J, Platzer K, Dörgeloh BB, Busche A, Biskup S, Mendes MI, Smith DEC, Salomons GS, Zibat A, Bültmann E, Nürnberg P, Spielmann M, Lemke JR, Li Y, Zenker M, Varshney GK, Hillen HS, Kratz CP, Wollnik B
Hum Mutat. 2022 Oct;43(10):1454-1471. doi: 10.1002/humu.24430. Epub 2022 Jul 21.

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis
Boschann F, Cogulu MÖ, Pehlivan D, Balachandran S, Vallecillo-Garcia P, Grochowski CM, Hansmeier NR, Coban Akdemir ZH, Prada-Medina CA, Aykut A, Fischer-Zirnsak B, Badura S, Durmaz B, Ozkinay F, Hägerling R, Posey JE, Stricker S, Gillessen-Kaesbach G, Spielmann M, Horn D, Brockmann K, Lupski JR, Kornak U, Schmidt J
Genet Med. 2022 Oct;24(10):2187-2193. doi: 10.1016/j.gim.2022.07.012. Epub 2022 Aug 13.

Dissecting the influence of cellular senescence on cell mechanics and extracellular matrix formation in vitro
Brauer E, Lange T, Keller D, Görlitz S, Cho S, Keye J, Gossen M, Petersen A, Kornak U
Aging Cell 2022 Dec 13:e13744. doi: 10.1111/acel.13744. Epub ahead of print.

Early-onset osteoporosis: Rare monogenic forms elucidate the complexity of disease pathogenesis beyond type I collagen
Costantini A, Mäkitie RE, Hartmann MA, Fratzl-Zelman N, Zillikens MC, Kornak U, Søe K, Mäkitie O
J Bone Miner Res. 2022 Sep;37(9):1623-1641. doi: 10.1002/jbmr.4668. Epub 2022 Sep 11.

Regenerative potential of epicardium-derived extracellular vesicles mediated by conserved miRNA transfer
Del Campo CV, Liaw NY, Gunadasa-Rohling M, Matthaei M, Braga L, Kennedy T, Salinas G, Voigt N, Giacca M, Zimmermann WH, Riley PR
Cardiovasc Res 2022 Jan 29;118(2):597-611. doi: 10.1093/cvr/cvab054.

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
Dumont M, Weber-Lassalle N, Joly-Beauparlant C, Ernst C, Droit A, Feng BJ, Dubois S, Collin-Deschesnes AC, Soucy P, Vallée M, Fournier F, Lemaçon A, Adank MA, Allen J, Altmüller J, Arnold N, Ausems MGEM, Berutti R, Bolla MK, Bull S, Carvalho S, Cornelissen S, Dufault MR, Dunning AM, Engel C, Gehrig A, Geurts-Giele WRR, Gieger C, Green J, Hackmann K, Helmy M, Hentschel J, Hogervorst FBL, Hollestelle A, Hooning MJ, Horváth J, Ikram MA, Kaulfuß S, Keeman R, Kuang D, Luccarini C, Maier W, Martens JWM, Niederacher D, Nürnberg P, Ott CE, Peters A, Pharoah PDP, Ramirez A, Ramser J, Riedel-Heller S, Schmidt G, Shah M, Scherer M, Stäbler A, Strom TM, Sutter C, Thiele H, van Asperen CJ, van der Kolk L, van der Luijt RB, Volk AE, Wagner M, Waisfisz Q, Wang Q, Wang-Gohrke S, Weber BHF, Genome Of The Netherlands Project, Ghs Study Group, Devilee P, Tavtigian S, Bader GD, Meindl A, Goldgar DE, Andrulis IL, Schmutzler RK, Easton DF, Schmidt MK, Hahnen E, Simard J
Cancers (Basel) 2022 Jul 11;14(14):3363. doi: 10.3390/cancers14143363.

Gene-expression profiles of pretreatment biopsies predict complete response of rectal cancer patients to preoperative chemoradiotherapy
Emons G, Auslander N, Jo P, Kitz J, Azizian A, Hu Y, Hess CF, Roedel C, Sax U, Salinas G, Stroebel P, Kramer F, Beissbarth T, Grade M, Ghadimi M, Ruppin E, Ried T, Gaedcke J
Br J Cancer 2022 Sep;127(4):766-775. doi: 10.1038/s41416-022-01842-2. Epub 2022 May 21

Heat shock protein A4 ablation leads to skeletal muscle myopathy associated with dysregulated autophagy and induced apoptosis
Elkenani M, Barakat AZ, Held T, Rodrigues DM, Mobarak S, Swarnka S, Adham IM, Mohamed BA
J Transl Med. 2022 May 14;20(1):229. doi: 10.1186/s12967-022-03418-3.

Transcriptomic profiling of clobetasol propionate-induced immunosuppression in challenged zebrafish embryos
Essfeld F, Reinwald H, Salinas G, Schäfers C, Eilebrecht E, Eilebrecht S
Ecotoxicol Environ Saf 2022 Mar 15;233:113346. doi: 10.1016/j.ecoenv.2022.113346. Epub 2022 Feb 25.

IGF-1 Gene Transfer Modifies Inflammatory Environment and Gene Expression in the Caudate-Putamen of Aged Female Rat Brain
Falomir-Lockhart E, Dolcetti FJC, Herrera ML, Pennini J, Zappa Villar MF, Salinas G, Portiansky E, Spittau B, Lacunza E, Hereñú CB, Bellini MJ
Mol Neurobiol 2022 Jun;59(6):3337-3352. doi: 10.1007/s12035-022-02791-w. Epub 2022 Mar 19.

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome
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Clin Genet 2022 May;101(5-6):559-564. doi: 10.1111/cge.14125. Epub 2022 Mar 11.

Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures
Gönenc II, Wolff A, Schmidt J, Zibat A, Müller C, Cyganek L, Argyriou L, Räschle M, Yigit G, Wollnik B.
Hum Mol Genet. 2022 Jul 7;31(13):2185-2193. doi: 10.1093/hmg/ddab373.

HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes
Grand K, Stoltz M, Rizzo L, Röck R, Kaminski M, Salinas G, Getwan M, Naert T, Pichler R, Lienkamp S
J Am Soc Nephrol. 2022 Dec 15:ASN.2022010076. doi: 10.1681/ASN.2022010076. Epub ahead of print.

Comparative multi-tissue profiling reveals extensive tissue-specificity in transcriptome reprogramming during thermal adaptation
Hadadi N, Spiljar M, Steinbach K, Çolakoğlu M, Chevalier C, Salinas G, Merkler D, Trajkovski M
Elife 2022 May 17;11:e78556. doi: 10.7554/eLife.78556.

Detailed phenotypic and functional characterization of CMV-associated adaptive NK cells in rhesus macaques
Hasan MZ, Höltermann C, Petersen B, Schrod A, Mätz-Rensing K, Kaul A, Salinas G, Dressel R, Walter L
Front Immunol. 2022 Nov 25;13:1028788. doi: 10.3389/fimmu.2022.1028788.

Doxorubicin induces cardiotoxicity in a pluripotent stem cell model of aggressive B cell lymphoma cancer patients
Haupt LP, Rebs S, Maurer W, Hübscher D, Tiburcy M, Pabel S, Maus A, Köhne S, Tappu R, Haas J, Li Y, Sasse A, Santos CCX, Dressel R, Wojnowski L, Bunt G, Möbius W, Shah AM, Meder B, Wollnik B, Sossalla S, Hasenfuss G, Streckfuss-Bömeke K
Basic Res Cardiol 2022 Mar 8;117(1):13. doi: 10.1007/s00395-022-00918-7.

The HIFα-Stabilizing Drug Roxadustat Increases the Number of Renal Epo-Producing Sca-1+ Cells
Jatho A, Zieseniss A, Brechtel-Curth K, Guo J, Böker KO, Salinas G, Wenger RH, Katschinski DM
Cells. 2022 Feb 21;11(4):753. doi: 10.3390/cells11040753.

GGPS1-associated muscular dystrophy with and without hearing loss
Kaiyrzhanov R, Perry L, Rocca C, Zaki MS, Hosny H, Araujo Martins Moreno C, Phadke R, Zaharieva I, Camelo Gontijo C, Beetz C, Pini V, Movahedinia M, Zanoteli E, DiTroia S, Vuillaumier-Barrot S, Isapof A, Mehrjardi MYV, Ghasemi N, Sarkozy A, Muntoni F, Whalen S, Vona B, Houlden H, Maroofian R.
Ann Clin Transl Neurol. 2022 Sep;9(9):1465-1474. doi: 10.1002/acn3.51633. Epub 2022 Jul 23.

Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome
Karakilic-Ozturan E, Altunoglu U, Ozturk AP, Kardelen Al AD, Yavas Abali Z, Avci S, Wollnik B, Poyrazoglu S, Bas F, Uyguner ZO, Kayserili H, Darendeliler F
Am J Med Genet A 2022 Jul;188(7):2061-2070. doi: 10.1002/ajmg.a.62742. Epub 2022 Apr 8.

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
Kornak U, Saha N, Keren B, Neumann A, Taylor Tavares AL, Piard J, Kopp J, Rodrigues Alves JG, Rodríguez de Los Santos M, El Choubassi N, Ehmke N, Jäger M, Spielmann M, Pantel JT, Lejeune E, Fauler B, Mielke T, Hecht J, Meierhofer D, Strom TM, Laugel V, Brice A, Mundlos S, Bertoli-Avella A, Bauer P, Heyd F, Boute O, Dupont J, Depienne C, Van Maldergem L, Fischer-Zirnsak B
Genet Med. 2022 Sep;24(9):1927-1940. doi: 10.1016/j.gim.2022.05.004. Epub 2022 Jun 7.

Heat stress leads to rapid lipid remodeling and transcriptional adaptations in Nicotiana tabacum pollen tubes
Krawczyk HE, Rotsch AH, Herrfurth C, Scholz P, Shomroni O, Salinas-Riester G, Feussner I, Ischebeck T
Plant Physiol 2022 Jun 1;189(2):490-515. doi: 10.1093/plphys/kiac127.

Prdm12 modulates pain-related behavior by remodeling gene expression in mature nociceptors
Latragna A, Sabaté San José A, Tsimpos P, Vermeiren S, Gualdani R, Chakrabarti S, Callejo G, Desiderio S, Shomroni O, Sitte M, Kricha S, Luypaert M, Vanhollebeke B, Laumet G, Salinas G, Smith ESJ, Ris L, Bellefroid EJ
Pain 2022 Aug 1;163(8):e927-e941. doi: 10.1097/j.pain.0000000000002536. Epub 2021 Dec 24.

Calcium bursts allow rapid reorganization of EFhD2/Swip-1 cross-linked actin networks in epithelial wound closure
Lehne F, Pokrant T, Parbin S, Salinas G, Großhans J, Rust K, Faix J, Bogdan S
Nat Commun 2022 May 6;13(1):2492. doi: 10.1038/s41467-022-30167-0.

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK.
Hum Mutat. 2022 Oct;43(10):1472-1489. doi: 10.1002/humu.24435. Epub 2022 Jul 21.

Generation of homozygous Nav1.8 knock-out iPSC lines by CRISPR Cas9 genome editing to investigate a potential new antiarrhythmic strategy
Maurer W, Hartmann N, Argyriou L, Sossalla S, Streckfuss-Bömeke K
Stem Cell Res. 2022 Apr;60:102677. doi: 10.1016/j.scr.2022.102677. Epub 2022 Jan 19.

Short-Term Test for Toxicogenomic Analysis of Ecotoxic Modes of Action in Lemna minor
Loll A, Reinwald H, Ayobahan SU, Göckener B, Salinas G, Schäfers C, Schlich K, Hamscher G, Eilebrecht S
Environ Sci Technol 2022 Aug 16;56(16):11504-11515. doi: 10.1021/acs.est.2c01777. Epub 2022 Aug 4.

ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise
May V, Koch L, Fischer-Zirnsak B, Horn D, Gehle P, Kornak U, Beule D, Holtgrewe M
Bioinformatics. 2022 Jun 25:btac418. doi: 10.1093/bioinformatics/btac418. Epub ahead of print

Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis
Meyer S, Kaulfuß S, Zechel S, Kummer K, Seif Amir Hosseini A, Ernst MS, Schmidt J, Pauli S, Zschüntzsch J
Front Neurol. 2022 Jul 19;13:893605. doi: 10.3389/fneur.2022.893605.

Small and long RNA transcriptome of whole human cerebrospinal fluid and serum as compared to their extracellular vesicle fractions reveal profound differences in expression patterns and impacts on biological processes
Michel U, Shomroni O, Müller B, Lange P, Salinas G, Bähr M, Koch JC
J Transl Med 2022 Sep 8;20(1):413. doi: 10.1186/s12967-022-03612-3.

RNF43 pathogenic Germline variant in a family with colorectal cancer
Mikaeel RR, Young JP, Li Y, Poplawski NK, Smith E, Horsnell M, Uylaki W, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Scott H, Rawlings L, Henry D, Vakulin C, Dubowsky A, Price TJ.
Clin Genet. 2022 Jan;101(1):122-126. doi: 10.1111/cge.14064. Epub 2021 Sep 27.

Survey of germline variants in cancer-associated genes in young adults with colorectal cancer
Mikaeel RR, Young JP, Li Y, Smith E, Horsnell M, Uylaki W, Tapia Rico G, Poplawski NK, Hardingham JE, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Price TJ
Genes Chromosomes Cancer. 2022 Feb;61(2):105-113. doi: 10.1002/gcc.23011. Epub 2021 Nov 18.

Genomic basis of syndromic short stature in an Algerian patient cohort
Moosa S, Chentli F, Altmüller J, Bögershausen N, Nürnberg P, Yigit G, Li Y, Wollnik B
Am J Med Genet A. 2022 Feb;188(2):606-612. doi: 10.1002/ajmg.a.62532. Epub 2021 Oct 13.

Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders
Oheim R, Tsourdi E, Seefried L, Beller G, Schubach M, Vettorazzi E, Stürznickel J, Rolvien T, Ehmke N, Delsmann A, Genest F, Krüger U, Zemojtel T, Barvencik F, Schinke T, Jakob F, Hofbauer LC, Mundlos S, Kornak U
J Clin Endocrinol Metab 2022 Jun 16;107(7):e3048-e3057. doi: 10.1210/clinem/dgac147.

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
Pater JA, Penney C, O’Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL.
Hum Genet. 2022 Apr;141(3-4):431-444. doi: 10.1007/s00439-022-02444-x.

Tumor suppressive functions of WNT5A in rhabdomyosarcoma
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Int J Oncol. 2022 Sep;61(3):102. doi: 10.3892/ijo.2022.5392. Epub 2022 Jul 7.

Toxicogenomic profiling after sublethal exposure to nerve- and muscle-targeting insecticides reveals cardiac and neuronal developmental effects in zebrafish embryos
Reinwald H, Alvincz J, Salinas G, Schäfers C, Hollert H, Eilebrecht S
Chemosphere. 2022 Mar;291(Pt 1):132746. doi: 10.1016/j.chemosphere.2021.132746. Epub 2021 Nov 5.

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
Rad A, Najafi M, Suri F, Abedini S, Loum S, Karimiani EG, Daftarian N, Murphy D, Doosti M, Moghaddasi A, Ahmadieh H, Sabbaghi H, Rajati M, Hashemi N, Vona B, Schmidts M.
Orphanet J Rare Dis. 2022 Mar 3;17(1):97. doi: 10.1186/s13023-022-02244-6.

Neutrophilic granulocyte-derived B-cell activating factor supports B cells in skin lesions in hidradenitis suppurativa
Sabat R, Šimaitė D, Gudjonsson JE, Brembach TC, Witte K, Krause T, Kokolakis G, Bartnik E, Nikolaou C, Rill N, Coulibaly B, Levin C, Herrmann M, Salinas G, Leeuw T, Volk HD, Ghoreschi K, Wolk K
J Allergy Clin Immunol 2022 Dec 5:S0091-6749(22)01621-9. doi: 10.1016/j.jaci.2022.10.034. Online ahead of print.

Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum
Schmidt J, Dreha-Kulaczewski S, Zafeiriou M-P, Schreiber M-K, Wilken B, Funke R, Neuhofer CM, Altmüller J, Thiele H, Nürnberg P, Biskup S, Li Y, Zimmermann WH, Kaulfuß S, Yigit G and Wollnik B
Front. Cell Dev. Biol. 2022 Nov 16;10:1025332. doi: 10.3389/fcell.2022.1025332.

Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome
Schmidt J, Bremmer F, Brockmann K, Kaulfuß S, Wollnik B
Clin Genet. 2022 Jun 7. doi: 10.1111/cge.14174. Epub ahead of print.

Familial cleft tongue caused by a unique translation initiation codon variant in TP63
Schmidt J, Schreiber G, Altmüller J, Thiele H, Nürnberg P, Li Y, Kaulfuß S, Funke R, Wilken B, Yigit G, Wollnik B
Eur J Hum Genet. 2022 Feb;30(2):211-218. doi: 10.1038/s41431-021-00967-x. Epub 2021 Oct 11.

Engineered skeletal muscle recapitulates human muscle development, regeneration and dystrophy
Shahriyari M, Islam MR, Sakib SM, Rinn M, Rika A, Krüger D, Kaurani L, Gisa V, Winterhoff M, Anandakumar H, Shomroni O, Schmidt M, Salinas G, Unger A, Linke WA, Zschüntzsch J, Schmidt J, Bassel-Duby R, Olson EN, Fischer A, Zimmermann WH, Tiburcy M
J Cachexia Sarcopenia Muscle 2022 Dec;13(6):3106-3121. doi: 10.1002/jcsm.13094. Epub 2022 Oct 18.

A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease
Shomroni O, Sitte M, Schmidt J, Parbin S, Ludewig F, Yigit G, Zelarayan LC, Streckfuss-Bömeke K, Wollnik B, Salinas G
Sci Rep. 2022 Mar 8;12(1):4091. doi: 10.1038/s41598-022-07874-1.

CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis
Stauber T, Wartosch L, Vishnolia S, Schulz A, Kornak U
Bone. 2022 Dec 10:116639. doi: 10.1016/j.bone.2022.116639. Epub ahead of print.

Clinical spectrum of Hereditary Hypophosphatemic rickets with Hypercalciuria (HHRH)
Stürznickel J, Heider F, Delsmann A, Gödel M, Grünhagen J, Huber TB, Kornak U, Amling M, Oheim R
J Bone Miner Res. 2022 Aug;37(8):1580-1591. doi: 10.1002/jbmr.4630. Epub 2022 Jul 8.

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss
Trpchevska N, Freidin MB, Broer L, Oosterloo BC, Yao S, Zhou Y, Vona B, Bishop C, Bizaki-Vallaskangas A, Canlon B, Castellana F, Chasman DI, Cherny S, Christensen K, Concas MP, Correa A, Elkon R; Estonian Biobank Research Team, Mengel-From J, Gao Y, Giersch ABS, Girotto G, Gudjonsson A, Gudnason V, Heard-Costa NL, Hertzano R, Hjelmborg JVB, Hjerling-Leffler J, Hoffman HJ, Kaprio J, Kettunen J, Krebs K, Kähler AK, Lallemend F, Launer LJ, Lee IM, Leonard H, Li CM, Lowenheim H, Magnusson PKE, van Meurs J, Milani L, Morton CC, Mäkitie A, Nalls MA, Nardone GG, Nygaard M, Palviainen T, Pratt S, Quaranta N, Rämö J, Saarentaus E, Sardone R, Satizabal Barrera CL, Schweinfurth JM, Seshadri S, Shiroma E, Shulman E, Simonsick E, Spankovich C, Tropitzsch A, Lauschke VM, Sullivan PF, Goedegebure A, Cederroth CR, Williams FMK, Nagtegaal AP.
Am J Hum Genet. 2022 Jun 2;109(6):1077-1091. doi: 10.1016/j.ajhg.2022.04.010. Epub 2022 May 16.

TP53-Status-Dependent Oncogenic EZH2 Activity in Pancreatic Cancer
Versemann L, Patil S, Steuber B, Zhang Z, Kopp W, Krawczyk HE, Kaulfuß S, Wollnik B, Ströbel P, Neesse A, Singh SK, Ellenrieder V, Hessmann E
Cancers (Basel) 2022 Jul 15;14(14):3451. doi: 10.3390/cancers14143451.

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive
Vogt G, Verheyen S, Schwartzmann S, Ehmke N, Potratz C, Schwerin-Nagel A, Plecko B, Holtgrewe M, Seelow D, Blatterer J, Speicher MR, Kornak U, Horn D, Mundlos S, Fischer-Zirnsak B, Boschann F
J Med Genet 2022 Jul;59(7):662-668. doi: 10.1136/jmedgenet-2021-107843. Epub 2021 Jun 18.

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss
Vona B, Schwartzbaum DA, Rodriguez AA, Lewis SS, Toosi MB, Radhakrishnan P, Bozan N, Akın R, Doosti M, Manju R, Duman D, Sineni CJ, Nampoothiri S, Karimiani EG, Houlden H, Bademci G, Tekin M, Girisha KM, Maroofian R, Douzgou S.
J Eur Acad Dermatol Venereol. 2022 Sep;36(9):1606-1611. doi: 10.1111/jdv.18207. Epub 2022 May 25.

Whole genome sequencing for newborns –The devil is in the details.
Vona B.
Clin Transl Med. 2022 Jul 7. doi: 10.1002/ctd2.102. Online ahead of print,

The Road Traveled and Journey Ahead for the Genetics and Genomics of Tinnitus
Vona B.
Mol Diagn Ther. 2022 Mar;26(2):129-136. doi: 10.1007/s40291-022-00578-2.

Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia
Wade EM, Parthasarathy P, Mi J, Morgan T, Wollnik B, Robertson SP, Cundy T
Eur J Hum Genet 2022 Apr;30(4):480-484. doi: 10.1038/s41431-021-00902-0. Epub 2021 May 9.

Is there an unmet medical need for improved hearing restoration?
Wolf BJ, Kusch K, Hunniford V, Vona B, Kühler R, Keppeler D, Strenzke N, Moser T.
EMBO Mol Med. 2022 Jul 14:e15798. doi: 10.15252/emmm.202215798. Online ahead of print.

Skeletal Class III Malocclusion Is Associated with ADAMTS2 Variants and Reduced Expression in a Familial Case
Yao S, Zhou X, Vona B, Fan L, Zhang C, Li D, Yuan H, Du Y, Ma L, Pan Y
Int J Mol Sci 2022 Sep 14;23(18):10673. doi: 10.3390/ijms231810673.

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
Yigit G, Sheffer R, Daana M, Li Y, Kaygusuz E, Mor-Shakad H, Altmüller J, Nürnberg P, Douiev L, Kaulfuss S, Burfeind P, Wollnik B, Brockmann K
J Med Genet 2022 Jun;59(6):549-553. doi: 10.1136/jmedgenet-2021-107769. Epub 2021 Jun 25.

CRISPR-Cas9-Edited Tacrolimus-Resistant Antiviral T Cells for Advanced Adoptive Immunotherapy in Transplant Recipients
Amini L, Wagner DL, Rössler U, Zarrinrad G, Wagner LF, Vollmer T, Wendering DJ, Kornak U, Volk HD, Reinke P, Schmueck-Henneresse M
Mol Ther. 2021 Jan 6;29(1):32-46. doi: 10.1016/j.ymthe.2020.09.011.

Context-dependent modulation of aggressiveness of pediatric tumors by individual oncogenic RAS isoforms
Bauer J, Cuvelier N, Ragab N, Simon-Keller K, Nitzki F, Geyer N, Botermann DS, Elmer DP, Rosenberger A, Rando TA, Biressi S, Fagin JA, Saur D, Dullin C, Schildhaus HU, Schulz-Schaeffer W, Aberger F, Uhmann A, Hahn H
Oncogene. 2021 Aug;40(31):4955-4966. doi: 10.1038/s41388-021-01904-4.

Transcriptome Analysis of Hypoxic Lymphatic Endothelial Cells Indicates Their Potential to Contribute to Extracellular Matrix Rearrangement
Becker J, Schwoch S, Zelent C, Sitte M, Salinas G, Wilting J
Cells. 2021 Apr 24;10(5).

Hedgehog signaling in endocrine and folliculo-stellate cells of the adult pituitary
Botermann DS, Brandes N, Frommhold A, Heß I, Wolff A, Zibat A, Hahn H, Buslei R, Uhmann A
J Endocrinol. 2021 Mar;248(3):303-316. doi: 10.1530/JOE-20-0388

Relevant genetic variants are common in women with pregnancy and lactation-associated osteoporosis (PLO) and predispose to more severe clinical manifestations
Butscheidt S, Tsourdi E, Rolvien T, Delsmann A, Stürznickel J, Barvencik F, Jakob F, Hofbauer LC, Mundlos S, Kornak U, Seefried L, Oheim R.
Bone. 2021 Mar 12;147:115911. doi: 10.1016/j.bone.2021.115911. Epub ahead of print.

Protein Signatures of NK Cell-Mediated Melanoma Killing Predict Response to Immunotherapies
Cappello S, Sung HM, Ickes C, Gibhardt CS, Vultur A, Bhat H, Hu Z, Brafford P, Denger A, Stejerean-Todoran I, Köhn RM, Lorenz V, Künzel N, Salinas G, Stanisz H, Legler T, Rehling P, Schön MP, Lang KS, Helms V, Herlyn M, Hoth M, Kummerow C, Bogeski I
Cancer Res 2021 Nov 1;81(21):5540-5554. doi: 10.1158/0008-5472.CAN-21-0164. Epub 2021 Sep 13.

Investigations on the Degradation of the Bile Salt Cholate via the 9,10-Seco-Pathway Reveals the Formation of a Novel Recalcitrant Steroid Compound by a Side Reaction in Sphingobium sp. Strain Chol11
Feller FM, Eilebrecht S, Nedielkov R, Yücel O, Alvincz J, Salinas G, Ludwig KC, Möller H, Philipp B
Microorganisms 2021 Oct 14;9(10):2146. doi: 10.3390/microorganisms9102146.

The detection of isochromosome i(12p) in malignant germ cell tumours and tumours with somatic malignant transformation by the use of quantitative real-time polymerase chain reaction
Fichtner A, Richter A, Filmar S, Gaisa NT, Schweyer S, Reis H, Nettersheim D, Oing C, Gayer FA, Leha A, Küffer S, Ströbel P, Kaulfuß S, Bremmer F
Histopathology. 2021 Mar;78(4):593-606. doi: 10.1111/his.14258.

Screening for potential targets to reduce stenosis in bioprosthetic heart valves
Foth R, Shomroni O, Sigler M, Hörer J, Cleuziou J, Paul T, Eildermann K
Sci Rep. 2021 Jan 28;11(1):2464. doi: 10.1038/s41598-021-81340-2.

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study
Gangfuß A, Yigit G, Altmüller J, Nürnberg P, Czeschik JC, Wollnik B, Bögershausen N, Burfeind P, Wieczorek D, Kaiser F, Roos A, Kölbel H, Schara-Schmidt U, Kuechler A.
Am J Med Genet A. 2021 Jan 11. doi: 10.1002/ajmg.a.62070. Epub ahead of print.

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency
Höppner J, Kornak U, Sinningen K, Rutsch F, Oheim R, Grasemann C
Bone. 2021 Jul 9;153:116111. doi: 10.1016/j.bone.2021.116111. Epub ahead of print.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S; Genomics England Research Consortium, Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Altmüller J, Motameny S, Höhne W, Houlden H, Nürnberg P, Wollnik B, Villard L, Alkuraya FS, Osmond M, Hussain MS, Yigit G
Genet Med. 2021 Jul 9. doi: 10.1038/s41436-021-01260-4. Epub ahead of print.

Mechanochemical control of epidermal stem cell divisions by B-plexins
Jiang C, Javed A, Kaiser L, Nava MM, Xu R, Brandt DT, Zhao D, Mayer B, Fernández-Baldovinos J, Zhou L, Höß C, Sawmynaden K, Oleksy A, Matthews D, Weinstein LS, Hahn H, Gröne HJ, Graumann PL, Niessen CM, Offermanns S, Wickström SA, Worzfeld T
Nat Commun. 2021 Feb 26;12(1):1308. doi: 10.1038/s41467-021-21513-9.

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology
Kargapolova Y, Rehimi R, Kayserili H, Brühl J, Sofiadis K, Zirkel A, Palikyras S, Mizi A, Li Y, Yigit G, Hoischen A, Frank S, Russ N, Trautwein J, van Bon B, Gilissen C, Laugsch M, Gusmao EG, Josipovic N, Altmüller J, Nürnberg P, Längst G, Kaiser FJ, Watrin E, Brunner H, Rada-Iglesias A, Kurian L, Wollnik B, Bouazoune K, Papantonis A.
Nat Commun. 2021 May 21;12(1):3014. doi: 10.1038/s41467-021-23327-1

MFSD2A-associated primary microcephaly – Expanding the clinical and mutational spectrum of this ultra-rare disease
Khuller K, Yigit G, Grijalva CM, Altmüller J, Thiele H, Nürnberg P, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, Köninger A, Depienne C, Kaiser FJ, Wollnik B, Kuechler A
Eur J Med Genet 2021 Aug 13:104310. doi: 10.1016/j.ejmg.2021.104310. Epub ahead of print.

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus
Melo US, Piard J, Fischer-Zirnsak B, Klever MK, Schöpflin R, Mensah MA, Holtgrewe M, Arbez-Gindre F, Martin A, Guigue V, Gaillard D, Landais E, Roze V, Kremer V, Ramanah R, Cabrol C, Harms FL, Kornak U, Spielmann M, Mundlos S, Van Maldergem L.
Hum Genet 2021 Aug 26. doi: 10.1007/s00439-021-02344-6. Epub ahead of print.

Chondrocytes From Osteoarthritic and Chondrocalcinosis Cartilage Represent Different Phenotypes
Meyer F, Dittmann A, Kornak U, Herbster M, Pap T, Lohmann CH, Bertrand J
Front Cell Dev Biol. 2021 Apr 26;9:622287. doi: 10.3389/fcell.2021.622287.

Restructuring of the male mice peripheral circadian network after bariatric surgery
Neumann AM, Geißler C, Pilorz V, Olejniczak I, Lewis AG, Seeley RJ, Shomroni O, Salinas-Riester G, Kirchner H, Oster H
J Endocrinol. 2021 Jun 28;250(2):67-79. doi: 10.1530/JOE-20-0611.

Lrrc34 Interacts with Oct4 and Has an Impact on Telomere Length in Mouse Embryonic Stem Cells
Nolte J
Stem Cells Dev. 2021 Nov;30(22):1093-1102. doi: 10.1089/scd.2021.0113. Epub 2021 Oct 27.

Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome
Pauli S, Berger H, Ufartes R, Borchers A
Front Cell Dev Biol 2021 Nov 5;9:779009. doi: 10.3389/fcell.2021.779009

Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in Cardiomyocytes
Peper J, Kownatzki-Danger D, Weninger G, Seibertz F, Pronto JR, Sutanto H, Pacheu Grau D, Hindmarsh R, Brandenburg S, Kohl T, Hasenfuβ G, Gotthardt M, Rog-Zielinska EA, Wollnik B, Rehling P, Urlaub H, Wegener JW, Heijman J, Voigt N, Cyganek L, Lenz C, Lehnart SE.
Circ Res. 2021 Jan 25. doi: 10.1161/CIRCRESAHA.119.316547. Epub ahead of print.

Toxicogenomic differentiation of functional responses to fipronil and imidacloprid in Daphnia magna
Pfaff J, Reinwald H, Ayobahan SU, Alvincz J, Göckener B, Shomroni O, Salinas G, Düring RA, Schäfers C, Eilebrecht S
Aquat Toxicol 2021 Jul 27;238:105927. doi: 10.1016/j.aquatox.2021.105927. Online ahead of print.

Oncogenic NRAS Accelerates Rhabdomyosarcoma Formation When Occurring within a Specific Time Frame during Tumor Development in Mice
Ragab N, Bauer J, Botermann DS, Uhmann A, Hahn H
Int J Mol Sci. 2021 Dec 13;22(24):13377. doi: 10.3390/ijms222413377.

The Redox Homeostasis of Skeletal Muscle Cells Regulates Stage Differentiation of Toxoplasma gondii
Rahman MT, Swierzy IJ, Downie B, Salinas G, Blume M, McConville MJ, Lüder CGK
Front Cell Infect Microbiol 2021 Nov 22;11:798549. doi: 10.3389/fcimb.2021.798549. eCollection 2021.

Generation and cardiac differentiation of an induced pluripotent stem cell line from a patient with arrhythmia-induced cardiomyopathy
Rebs S, Beier J, Argyriou L, Schill T, Hasenfuss G, Vollmann D, Sossalla S, Streckfuss-Bömeke K
Stem Cell Res. 2021 May;53:102263. doi: 10.1016/j.scr.2021.102263. Epub 2021 Feb 20.

Toxicogenomic fin(ger)prints for thyroid disruption AOP refinement and biomarker identification in zebrafish embryos
Reinwald H, König A, Ayobahan SU, Alvincz J, Sipos L, Göckener B, Böhle G, Shomroni O, Hollert H, Salinas G, Schäfers C, Eilebrecht E, Eilebrecht S
Sci Total Environ 2021 Mar 15;760:143914. doi: 10.1016/j.scitotenv.2020.143914. Epub 2020 Dec 10.

A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions
Rodríguez de Los Santos M, Rivalan M, David FS, Stumpf A, Pitsch J, Tsortouktzidis D, Velasquez LM, Voigt A, Schilling K, Mattei D, Long M, Vogt G, Knaus A, Fischer-Zirnsak B, Wittler L, Timmermann B, Robinson PN, Horn D, Mundlos S, Kornak U, Becker AJ, Schmitz D, Winter Y, Krawitz PM.
Proc Natl Acad Sci U S A. 2021 Jan 12;118(2):e2014481118. doi: 10.1073/pnas.2014481118.

Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis
Rössler U, Hennig AF, Stelzer N, Bose S, Kopp J, Søe K, Cyganek L, Zifarelli G, Ali S, von der Hagen M, Strässler E, Hahn G, Pusch M, Stauber T, Izsvák Z, Gossen M, Stachelscheid H, Kornak U
J Bone Miner Res. 2021 Apr 27;. [Epub ahead of print]

Biallelic variants in YRDC cause a developmental disorder with progeroid features
Schmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altmüller J, Thiele H, Nürnberg P, Isensee J, Li Y, Müller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B
Hum Genet2021 Sep 20. doi: 10.1007/s00439-021-02347-3. Epub ahead of print.

TFE3 activation in a TSC1-altered malignant PEComa: challenging the dichotomy of the underlying pathogenic mechanisms
Schmiester M, Dolnik A, Kornak U, Pfitzner B, Hummel M, Treue D, Hartmann A, Agaimy A, Weyerer V, Lekaj A, Brakemeier S, Peters R, Öllinger R, Märdian S, Bullinger L, Striefler JK, Flörcken A
J Pathol Clin Res. 2021 Jan;7(1):3-9. doi: 10.1002/cjp2.187. Epub 2020 Nov 12.

Aplasia cutis congenita in a CDC42-related developmental phenotype
Schnabel F, Kamphausen SB, Funke R, Kaulfuß S, Wollnik B, Zenker M
Am J Med Genet A. 2021 Mar;185(3):850-855. doi: 10.1002/ajmg.a.62009. Epub 2020 Dec 7.

Premature ageing disorders – a clinical and genetic compendium
Schnabel F, Kornak U, Wollnik B.
Clin Genet. 2021 Jan;99(1):3-28. doi: 10.1111/cge.13837. Epub 2020 Sep 29.

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
Schröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A, Biskup S, Dreha-Kulaczewski S, Christoph Korenke G, Kottke R, Mayr JA, Preisel M, Toelle SP, Wente-Schulz S, Wortmann SB, Hahn H, Boltshauser E, Uhmann A, Wollnik B, Brockmann K.
Genet Med. 2021 Feb;23(2):341-351. doi: 10.1038/s41436-020-00979-w. Epub 2020 Oct 7.

Using Xenopus to analyze neurocristopathies like Kabuki syndrome
Schwenty-Lara J, Pauli S, Borchers A
Genesis 2021 Feb;59(1-2):e23404. doi: 10.1002/dvg.23404.

Differences in synaptic vesicle pool behavior between male and female hippocampal cultured neurons
Sertel SM, Blumenstein W, Mandad S, Shomroni O, Salinas G, Rizzoli SO
Sci Rep 2021 Aug 30;11(1):17374. doi: 10.1038/s41598-021-96846-y.

The folate antagonist methotrexate diminishes replication of the coronavirus SARS-CoV-2 and enhances the antiviral efficacy of remdesivir in cell culture models
Stegmann KM, Dickmanns A, Gerber S, Nikolova V, Klemke L, Manzini V, Schlösser D, Bierwirth C, Freund J, Sitte M, Lugert R, Salinas G, Meister TL, Pfaender S, Görlich D, Wollnik B, Groß U, Dobbelstein M
Virus Res 2021 Jun 3:198469. doi: 10.1016/j.virusres.2021.198469. Epub ahead of print.

Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP)
Stürznickel J, Rolvien T, Delsmann A, Butscheidt S, Barvencik F, Mundlos S, Schinke T, Kornak U, Amling M, Oheim R
J Bone Miner Res. 2021 Feb;36(2):271-282. doi: 10.1002/jbmr.4197. Epub 2020 Nov 12.

Compound heterozygous frameshift mutations in MESD cause a lethal syndrome suggestive of osteogenesis imperfecta type XX
Stürznickel J, Jähn-Rickert K, Zustin J, Hennig F, Delsmann MM, Schoner K, Rehder H, Kreczy A, Schinke T, Amling M, Kornak U, Oheim R.
J Bone Miner Res 2021 Feb 17. doi: 10.1002/jbmr.4277. Epub ahead of print.

CHARGE syndrome and related disorders: A mechanistic link
Ufartes R, Grün R, Salinas G, Sitte M, Kahl F, Wong MTY, van Ravenswaaij-Arts CMA, Pauli S
Hum Mol Genet 2021 Jul 6:ddab183. doi: 10.1093/hmg/ddab183. Epub ahead of print.

Post-transcriptional regulation by the exosome complex is required for cell survival and forebrain development via repression of P53 signaling
Ulmke PA, Xie Y, Sokpor G, Pham L, Shomroni O, Berulava T, Rosenbusch J, Basu U, Fischer A, Nguyen HP, Staiger JF, Tuoc T
Development. 2021 Feb 8;148(3):dev188276. doi: 10.1242/dev.188276.

ATP6V0A2-Related Cutis Laxa
Van Maldergem L, Dobyns W, Kornak U.
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Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa
Vogt G, El Choubassi N, Herczegfalvi Á, Kölbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, Hübner C, Mundlos S, Roos A, Lochmüller H, Karcagi V, Kornak U, Fischer-Zirnsak B
J Inherit Metab Dis. 2021 Jul;44(4):972-986. doi: 10.1002/jimd.12341. Epub 2021 Feb 4.

Transmitted resistance in HIV-1 of patients from nine departments of Peru
Yabar CA, Vilcarino GF, Espetia S, Yaya MG, Salinas G, García-Fernández L, Vásquez Becerra RD, Benites C, Santos-Anaya D, Mamani E, Acuña M, Romero S, Cárdenas F
Rev Peru Med Exp Salud Publica 2021 Jan-Mar;38(1):77-82. doi: 10.17843/rpmesp.2021.381.5527. Epub 2021 Jun 25.

Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy
Yigit G, Wollnik B.
Medizinische Genetik 2021;33(3): 235-243. doi: 10.1515/medgen-2021-2094.

EVL regulates VEGF receptor-2 internalization and signaling in developmental angiogenesis
Zink J, Frye M, Frömel T, Carlantoni C, John D, Schreier D, Weigert A, Laban H, Salinas G, Stingl H, Günther L, Popp R, Hu J, Vanhollebeke B, Schmidt H, Acker-Palmer A, Renné T, Fleming I, Benz PM
EMBO Rep 2021 Feb 3;22(2):e48961. doi: 10.15252/embr.201948961. Epub 2021 Jan 29.

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility
Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F
Hum Mutat 2020, 41(5):998-1011, doi: 10.1002/humu.23993

IgG Fc sialylation is regulated during the germinal center reaction following immunization with different adjuvants
Bartsch YC, Eschweiler S, Leliavski A, Lunding HB, Wagt S, Petry J, Lilienthal GM, Rahmöller J, de Haan N, Hölscher A, Erapaneedi R, Giannou AD, Aly L, Sato R, de Neef LA, Winkler A, Braumann D, Hobusch J, Kuhnigk K, Krémer V, Steinhaus M, Blanchard V, Gemoll T, Habermann JK, Collin M, Salinas G, Manz RA, Fukuyama H, Korn T, Waisman A, Yogev N, Huber S, Rabe B, Rose-John S, Busch H, Berberich-Siebelt F, Hölscher C, Wuhrer M, Ehlers M
J Allergy Clin Immun 2020, 146(3):652-666.e11, doi: 10.1016/j.jaci.2020.04.059

WIF1 Suppresses the Generation of Suprabasal Cells in Acanthotic Skin and Growth of Basal Cell Carcinomas upon Forced Overexpression
Becker M, Bauer J, Pyczek J, König S, Müllen A, Rabe H, Schön MP, Uhmann A, Hahn H
J Invest Dermatol 2020, 140(8):1556-1565.e11, doi: 10.1016/j.jid.2019.11.030

Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes
Bork K, Zibat A, Ferrari DM, Wollnik B, Schön MP, Wulff K, Lippert U
J Dtsch Dermatol Ges 2020, 18(3):215-223, doi: 10.1111/ddg.14036

Spreading of Isolated Ptch Mutant Basal Cell Carcinoma Precursors Is Physiologically Suppressed and Counteracts Tumor Formation in Mice
Brandes N, Mitkovska SH, Botermann DS, Maurer W, Müllen A, Scheile H, Zabel S, Frommhold A, Heß I, Hahn H, Uhmann A
Int J Mol Sci 2020, 21(23):9295, doi: 10.3390/ijms21239295

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E
Eur J Hum Genet 2020, 28(10):1422-1431, doi: 10.1038/s41431-020-0654-4.

Perturbed differentiation of murine embryonic stem cells upon Pelota deletion due to dysregulated FOXO1/β-catenin signaling
Elkenani M, Nyamsuren G, Toischer K, Adham IM, Mohamed BA
FEBS J 2020, Nov 27, doi: 10.1111/febs.15643. Online ahead of print.

The detection of isochromosome i(12p) in malignant germ cell tumours and tumours with somatic malignant transformation by the use of quantitative real-time polymerase chain reaction
Fichtner A, Richter A, Filmar S, Gaisa NT, Schweyer S, Reis H, Nettersheim D, Oing C, Gayer FA, Leha A, Küffer S, Ströbel P, Kaulfuß S, Bremmer F
Histopathology 2020, Sep 24, doi: 10.1111/his.14258. Online ahead of print.

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
Ganapathi M, Argyriou L, Martínez-Azorín F, Morlot S, Yigit G, Lee TM, Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorlí-García M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B
Hum Genet 2020, 139(11):1443-1454, doi: 10.1007/s00439-020-02188-6.

Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy
Hanses U, Kleinsorge M, Roos L, Yigit G, Li Y, Barbarics B, El-Battrawy I, Lan H, Tiburcy M, Hindmarsh R, Lenz C, Salinas G, Diecke S, Müller C, Adham I, Altmüller J, Nürnberg P, Paul T, Zimmermann WH, Hasenfuss G, Wollnik B, Cyganek L
Circulation 2020, 142(11):1059-1076, doi: 10.1161/CIRCULATIONAHA.119.044794.

NCSTN Deficiency and Depigmentation: All About Tyrosinase?
Hermasch MA, Janning H, Schnabel V, Muschalek W, Bennemann A, Schön MP, Betz RC, Dosch R, Frank J
J Invest Dermatol 2020, S0022-202X(20)32147-3, doi: 10.1016/j.jid.2020.08.026

Diversity of Clinically Relevant Outcomes Resulting from Hypofractionated Radiation in Human Glioma Stem Cells Mirrors Distinct Patterns of Transcriptomic Changes
Kalasauskas D, Sorokin M, Sprang B, Elmasri A, Viehweg S, Salinas G, Opitz L, Rave-Fraenk M, Schulz-Schaeffer W, Kantelhardt SR, Giese A, Buzdin A, Kim EL
Cancers 2020, 12(3):570, doi: 10.3390/cancers12030570

Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity
Koch C, Kuske A, Joosse SA, Yigit G, Sflomos G, Thaler S, Smit DJ, Werner S, Borgmann K, Gärtner S, Mossahebi Mohammadi P, Battista L, Cayrefourcq L, Altmüller J, Salinas-Riester G, Raithatha K, Zibat A, Goy Y, Ott L, Bartkowiak K, Tan TZ, Zhou Q, Speicher MR, Müller V, Gorges TM, Jücker M, Thiery JP, Brisken C, Riethdorf S, Alix-Panabières C, Pantel K
EMBO Mol Med 2020, e11908, doi: 10.15252/emmm.201911908

Motor neuron translatome reveals deregulation of SYNGR4 and PLEKHB1 in mutant TDP-43 amyotrophic lateral sclerosis models
Marques RF, Engler JB, Küchler K, Jones RA, Lingner T, Salinas G, Gillingwater TH, Friese MA, Duncan KE
Hum Mol Genet 2020 29(16):2647-2661, doi: 10.1093/hmg/ddaa140

Maturational Changes in Mouse Cutaneous Touch and Piezo2-Mediated Mechanotransduction
Michel N, Narayanan P, Shomroni O, Schmidt M
Cell Rep 2020 32(3):107912, doi: 10.1016/j.celrep.2020.107912

A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia
Neuhofer CM, Funke R, Wilken B, Knaus A, Altmüller J, Nürnberg P, Li Y, Wollnik B, Burfeind P, Pauli S
Mol Syndromol 2020, 11(1):30-37, doi: 10.1159/000505797

Long-term effects of empagliflozin on excitation-contraction-coupling in human induced pluripotent stem cell cardiomyocytes
Pabel S, Reetz F, Dybkova N, Shomroni O, Salinas G, Mustroph J, Hammer KP, Hasenfuss G, Hamdani N, Maier LS, Streckfuss-Bömeke K, Sossalla S
J Mol Med 2020, 98(12):1689-1700, doi: 10.1007/s00109-020-01989-6

DNA Methylation-Mediated Modulation of Endocytosis as Potential Mechanism for Synaptic Function Regulation in Murine Inhibitory Cortical Interneurons
Pensold D, Reichard J, Van Loo KMJ, Ciganok N, Hahn A, Bayer C, Liebmann L, Groß J, Tittelmeier J, Lingner T, Salinas-Riester G, Symmank J, Halfmann C, González-Bermúdez L, Urbach A, Gehrmann J, Costa I, Pieler T, Hübner CA, Vatter H, Kampa B, Becker AJ, Zimmer-Bensch G.
Cereb Cortex 2020, 30(7):3921-3937, doi: 10.1093/cercor/bhaa009

Human RAD50 deficiency: Confirmation of a distinctive phenotype
Ragamin A, Yigit G, Bousset K, Beleggia F, Verheijen FW, de Wit MCY, Strom TM, Dörk T, Wollnik B, Mancini GMS
Am J Med Genet A 2020, 182(6):1378-1386, doi: 10.1002/ajmg.a.61570

SUMOylation controls the neurodevelopmental function of the transcription factor Zbtb20
Ripamonti S, Shomroni O, Rhee JS, Chowdhury K, Jahn O, Hellmann KP, Bonn S, Brose N, Tirard M
J Neurochem 2020, 154(6):647-661, doi: 10.1111/jnc.15008.

Generation of homozygous CRISPRa human induced pluripotent stem cell (hiPSC) lines for sustained endogenous gene activation
Schoger E, Argyriou L, Zimmermann WH, Cyganek L, Zelarayán LC
Stem Cell Res 2020, 48:101944, doi: 10.1016/j.scr.2020.101944

CRISPR-Mediated Activation of Endogenous Gene Expression in the Postnatal Heart
Schoger E, Carroll KJ, Iyer LM, McAnally JR, Tan W, Liu N, Noack C, Shomroni O, Salinas G, Groß J, Herzog N, Doroudgar S, Bassel-Duby R, Zimmermann WH, Zelarayán LC
Circ Res 2020, 126(1):6-24, doi: 10.1161/CIRCRESAHA.118.314522

Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM
Schröder S, Wieland B, Ohlenbusch A, Yigit G, Altmüller J, Boltshauser E, Dörk T, Brockmann K
Am J Med Genet A 2020, 182(12):2971-2975, doi: 10.1002/ajmg.a.61870

Ammonium acts systemically while nitrate exerts an additional local effect on Medicago truncatula nodules
Schulze J, Liese R, Ballesteros G, Casieri L, Salinas G, Cabeza RA
Plant Sci. 2020, 292:110383. doi: 10.1016/j.plantsci.2019.110383

Non-Human Primate iPSC Generation, Cultivation, and Cardiac Differentiation under Chemically Defined Conditions
Stauske M, Rodriguez Polo I, Haas W, Knorr DY, Borchert T, Streckfuss-Bömeke K, Dressel R, Bartels I, Tiburcy M, Zimmermann WH, Behr R
Cells 2020, 9(6):1349, doi: 10.3390/cells9061349

Neugeborenes mit Nasenagenesie: Neonatologische Herausforderungen bei der Versorgung eines Neugeborenen mit Bosma-Arhinie-Mikrophthalmie-Syndrom (BAMS)
Stromiedel H, Van Quekelberghe C, Yigit G, Naimi AA, Bahlmann F, Sader R, Guchlerner M, Lüchtenberg M, Latta K, Cho CH, Wollnik B, Kunzmann S.
Z Geburtshilfe Neonatol. 2020, 224(6):377-380, doi: 10.1055/a-1224-4465.

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altmüller J, Nürnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S
Hum Genet 2020, 139(11):1363-1379, doi: 10.1007/s00439-020-02175-x

Inhibition of the autophagic protein ULK1 attenuates axonal degeneration in vitro and in vivo, enhances translation, and modulates splicing
Vahsen BF, Ribas VT, Sundermeyer J, Boecker A, Dambeck V, Lenz C, Shomroni O, Caldi Gomes L, Tatenhorst L, Barski E, Roser AE, Michel U, Urlaub H, Salinas G, Bähr M, Koch JC, Lingor P
Cell Death Differ 2020, 27(10):2810-2827, doi: 10.1038/s41418-020-0543-y

Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia
Weber T, Schlotawa L, Dosch R, Hamilton N, Kaiser J, Schiller S, Wenske B, Gärtner J, Henneke M
Biol Open 2020, 9(5):bio049239, doi: 10.1242/bio.049239

Increased presence and differential molecular imprinting of transit amplifying cells in psoriasis
Witte K, Jürchott K, Christou D, Hecht J, Salinas G, Krüger U, Klein O, Kokolakis G, Witte-Händel E, Mössner R, Volk HD, Wolk K, Sabat R
J Mol Med 2020, 98(1):111-122, doi: 10.1007/s00109-019-01860-3

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype
Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck BB, Nürnberg P, Dieterich C, Wollnik B, Matsumoto N, Altmüller J
Hum Mutat 2020, 41(3):591-599, doi: 10.1002/humu.23964

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite
Dion C, Roche S, Laberthonnière C, Broucqsault N, Mariot V, Xue S, Gurzau AD, Nowak A, Gordon CT, Gaillard MC, El-Yazidi C, Thomas M, Schlupp-Robaglia A, Missirian C, Malan V, Ratbi L, Sefiani A, Wollnik B, Binetruy B, Salort Campana E, Attarian S, Bernard R, Nguyen K, Amiel J, Dumonceaux J, Murphy JM, Déjardin J, Blewitt ME, Reversade B, Robin JD, Magdinier F
Nucleic Acids Res 2019, 47(6): 2822-2839, doi: 10.1093/nar/gkz005

PEDIA: prioritization of exome data by image analysis
Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM
Genet Med 2019 June 5, doi: 10.1038/s41436-019-0566-

Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
Kalasova I, Hanzlikova H, Gupta N, Li Y, Altmüller J, Reynolds JJ, Stewart GS, Wollnik B, Yigit G, Caldecott KW (2019)
Neurol Genet 2019, 5(2): e320, doi: 10.1212/NXG.0000000000000320

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
Lahrouchi N, George A, Ratbi I, Schneider R, Elalaoui SC, Moosa S, Bharti S, Sharma R, Abu-Asab M, Onojafe F, Adadi N, Lodder EM, Laarabi FZ, Lamsyah Y, Elorch H, Chebbar I, Postma AV, Lougaris V, Plebani A, Altmueller J, Kyrieleis H, Meiner V, McNeill H, Bharti K, Lyonnet S, Wollnik B, Henrion-Caude A, Berraho A, Hildebrandt F, Bezzina CR, Brooks BP, Sefiani A
Nat Commun 2019, 10(1): 1180, doi: 10.1038/s41467-019-08547-w

Therapeutic Targeting of Stat3 Using Lipopolyplex Nanoparticle-Formulated siRNA in a Syngeneic Orthotopic Mouse Glioma Model
Linder B, Weirauch U, Ewe A, Uhmann A, Seifert V, Mittelbronn M, Harter PN, Aigner A, Kögel D
Cancers 2019, 11(3): -, doi: 10.3390/cancers11030333

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C
Am J Hum Genet 2019, 105(4): 836-843, doi: 10.1016/j.ajhg.2019.08.008

HACE1 deficiency leads to structural and functional neurodevelopmental defects
Nagy V, Hollstein R, Pai TP, Herde MK, Buphamalai P, Moeseneder P, Lenartowicz E, Kavirayani A, Korenke GC, Kozieradzki I, Nitsch R, Cicvaric A, Monje Quiroga FJ, Deardorff MA, Bedoukian EC, Li Y, Yigit G, Menche J, Perçin EF, Wollnik B, Henneberger C, Kaiser FJ, Penninger JM
Neurol Genet 2019, 5(3): e330, doi: 10.1212/NXG.0000000000000330

Regulation and Role of GLI1 in Cutaneous Squamous Cell Carcinoma Pathogenesis
Pyczek J, Khizanishvili N, Kuzyakova M, Zabel S, Bauer J, Nitzki F, Emmert S, Schön MP, Boukamp P, Schildhaus HU, Uhmann A, Hahn H
Front Genet 2019, 10: 1185, doi: 10.3389/fgene.2019.01185

Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema
Recke A, Massalme EG, Jappe U, Steinmüller-Magin L, Schmidt J, Hellenbroich Y, Hüning I, Gillessen-Kaesbach G, Zillikens D, Hartmann K
Clin Transl Allergy 2019, 9: 9, doi: 10.1186/s13601-019-0247-x

Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections
Reiss J
Hum Genet 2019, 138(4): 355-361, doi: 10.1007/s00439-019-01992-z

Baboon induced pluripotent stem cell generation by piggyBac transposition of reprogramming factors
Rodriguez-Polo I, Stauske M, Becker A, Bartels I, Dressel R, Behr R
Primate Biol 2019, 6: 75–86

Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon
Schucht S, Minso R, Lex C, Reiss J, Stanke F, Tamm S, van Barneveld A, Tümmler B
Mol Genet Genom Med 2019, 7(2): e00526, doi: 10.1002/mgg3.526

GRIN2A-related disorders: genotype and functional consequence predict phenotype
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR, GRIN2A study group
Brain 2019, 142(1): 80-92, doi: 10.1093/brain/awy304

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer
Weber-Lassalle N, Borde J, Weber-Lassalle K, Horváth J, Niederacher D, Arnold N, Kaulfuß S, Ernst C, Paul VG, Honisch E, Klaschik K, Volk AE, Kubisch C, Rapp S, Lichey N, Altmüller J, Lepkes L, Pohl-Rescigno E, Thiele H, Nürnberg P, Larsen M, Richters L, Rhiem K, Wappenschmidt B, Engel C, Meindl A, Schmutzler RK, Hahnen E, Hauke J
Breast Cancer Res 2019, 21(1): 55, doi: 10.1186/s13058-019-1137-9

Insights into pediatric rhabdomyosarcoma research: Challenges and goals
Yohe ME, Heske CM, Stewart E, Adamson PC, Ahmed N, Antonescu CR, Chen E, Collins N, Ehrlich A, Galindo RL, Gryder BE, Hahn H, Hammond S, Hatley ME, Hawkins DS, Hayes MN, Hayes-Jordan A, Helman LJ, Hettmer S, Ignatius MS, Keller C, Khan J, Kirsch DG, Linardic CM, Lupo PJ, Rota R, Shern JF, Shipley J, Sindiri S, Tapscott SJ, Vakoc CR, Wexler LH, Langenau DM
Pediatr Blood Cancer 2019, June 21: e27869, doi: 10.1002/pbc.27869