Publikationen

2021

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.

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.

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 2021 Sep 19. doi: 10.1111/cge.14064. Epub ahead of print.

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 2021 Nov 11. doi: 10.1002/gcc.23011. Epub ahead of print.

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 2021 Oct 13. doi: 10.1002/ajmg.a.62532. Epub ahead of print.

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.

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]

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. 2021 Apr 19. doi: 10.1111/odi.13879. 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.

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 2021 Oct 11. doi: 10.1038/s41431-021-00967-x. Epub ahead of print.

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.

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.

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.

ATP6V0A2-Related Cutis Laxa
Van Maldergem L, Dobyns W, Kornak U.
2009 Mar 19 [updated 2021 Jan 28]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021.

Regenerative potential of epicardium-derived extracellular vesicles mediated by conserved miRNA transfer
Villa Del Campo C, Liaw NY, Gunadasa-Rohling M, Matthaei M, Braga L, Kennedy T, Salinas G, Voigt N, Giacca M, Zimmermann WH, Riley PR
Cardiovasc Res. 2021 Feb 18:cvab054. doi: 10.1093/cvr/cvab054. Epub ahead of print

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 2021 Jun 18:jmedgenet-2021-107843. doi: 10.1136/jmedgenet-2021-107843. Epub ahead of print.

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. 2021 May 9. doi: 10.1038/s41431-021-00902-0. Epub ahead of print.

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 2021 Jun 25:jmedgenet-2021-107769. doi: 10.1136/jmedgenet-2021-107769. Epub ahead of print.

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.

2020

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

2019

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

2018

PIK3CA mutations are specifically localized to lymphatic endothelial cells of lymphatic malformations
Blesinger H, Kaulfuß S, Aung T, Schwoch S, Prantl L, Rößler J, Wilting J, Becker J
PLOS One 2018, 13(7): e0200343, doi: 10.1371/journal.pone.0200343

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders
Bögershausen N, Wollnik B
Front Mol Neurosci 2018,11: 252, doi: 10.3389/fnmol.2018.00252

Testosterone metabolites inhibit proliferation of castration- and therapy-resistant prostate cancer
Bremmer F, Jarry H, Unterkircher V, Kaulfuss S, Burfeind P, Radzun HJ, Ströbel P, Thelen P
Oncotarget 2018, 9(24): 16951-16961, doi: 10.18632/oncotarget.24763

Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a SRCAP Mutation and Review of the Literature
Budisteanu M, Bögershausen N, Papuc SM, Moosa S, Thoenes M, Riga D, Arghir A, Wollnik B
Balk J Med Genet 2018, 21(1): 83-86, doi: 10.2478/bjmg-2018-0005

[Modern genetic counselling : Practical aspects exemplified by hypertrophic cardiomyopathy]
Czepluch F, Hasenfuß G, Wollnik B
Internist 2018, 59(8): 790-798, doi: 10.1007/s00108-018-0452-z

Genetic determinants of heart failure: facts and numbers
Czepluch FS, Wollnik B, Hasenfuß G
ESC Heart Fail 2018, 5(3): 211-217, doi: 10.1002/ehf2.12267

Workshop on Germ Cells
Dosch R
Front Cell Dev Biol 2018, 6: 157, doi: 10.3389/fcell.2018.00157

Genomic information and a person’s right not to know: A closer look at variations in hypothetical informational preferences in a German sample
Flatau L, Reitt M, Duttge G, Lenk C, Zoll B, Poser W, Weber A, Heilbronner U, Rietschel M, Strohmaier J, Kesberg R, Nagel J, Schulze TG
PLOS One 2018, 13(6): e0198249, doi: 10.1371/journal.pone.0198249

Different Response of Ptch Mutant and Ptch Wildtype Rhabdomyosarcoma Toward SMO and PI3K Inhibitors
Geyer N, Ridzewski R, Bauer J, Kuzyakova M, Dittmann K, Dullin C, Rosenberger A, Schildhaus HU, Uhmann A, Fulda S, Hahn H
Front Oncol 2018, 8: 396, doi: 10.3389/fonc.2018.00396

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer
Hauke J, Horvath J, Groß E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber BHF, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Altmüller J, Volk AE, Thiele H, Hübbel V, Nürnberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler RK, Hahnen E
Cancer Med-US 2018, 7(4): 1349-1358, doi: 10.1002/cam4.1376

Functional equivalence of germ plasm organizers
Krishnakumar P, Riemer S, Perera R, Lingner T, Goloborodko A, Khalifa H, Bontems F, Kaufholz F, El-Brolosy MA, Dosch R.
PLoS Genet. 2018 Nov 6;14(11):e1007696. doi: 10.1371/journal.pgen.1007696.

Autosomal recessive primary microcephaly due to ASPM mutations: An update
Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S
Hum Mutat 2018, 39(3): 319-332, doi: 10.1002/humu.23381

An evolutionarily conserved ribosome-rescue pathway maintains epidermal homeostasis
Liakath-Ali K, Mills EW, Sequeira I, Lichtenberger BM, Pisco AO, Sipilä KH, Mishra A, Yoshikawa H, Wu CCC, Ly T, Lamond AI, Adham IM, Green R, Watt FM
Nature 2018, 556(7701): 376-380, doi: 10.1038/s41586-018-0032-3

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP
Am J Hum Genet 2018, 103(2): 221-231, doi: 10.1016/j.ajhg.2018.07.001

Relaxin Family Member Insulin-Like Peptide 6 Ameliorates Cardiac Fibrosis and Prevents Cardiac Remodeling in Murine Heart Failure Models
Maruyama S, Wu CL, Yoshida S, Zhang D, Li PH, Wu F, Parker Duffen J, Yao R, Jardin B, Adham IM, Law R, Berger J, Di Marchi R, Walsh K
J Am Heart Assoc 2018, 7(12): pii: e008441, doi: 10.1161/JAHA.117.008441

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation
Mayr SJ, Sass JO, Vry J, Kirschner J, Mader I, Hövener JB, Reiss J, Santamaria-Araujo JA, Schwarz G, Grünert SC
J Inherit Metab Dis 2018, 41(2): 187-196, doi: 10.1007/s10545-018-0138-7

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants
Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K
Genet Med 2018, 20(1): 98-108, doi: 10.1038/gim.2017.75

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmüller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Müller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC
J Med Genet 2018, 55(12): 837-846, doi: 10.1136/jmedgenet-2018-105528

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome
Pauli S, Altmüller J, Schröder S, Ohlenbusch A, Dreha-Kulaczewski S, Bergmann C, Nürnberg P, Thiele H, Li Y, Wollnik B, Brockmann K
J Med Genet 2018, pii: jmedgenet-2018-105470, doi: 10.1136/jmedgenet-2018-105470

Canonical WNT/β-Catenin Signaling Plays a Subordinate Role in Rhabdomyosarcomas
Ragab N, Viehweger F, Bauer J, Geyer N, Yang M, Seils A, Belharazem D, Brembeck FH, Schildhaus HU, Marx A, Hahn H, Simon-Keller K
Front Pediatr 2018, 6: 378, doi: 10.3389/fped.2018.00378

Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfecta
Rodriguez Celin M, Moosa S, Fano V
Ann Hum Genet 2018, 82(6): 477-481, doi: 10.1111/ahg.12275

Multiple, Multiloculated, and Recurrent Keratocysts of the Mandible and Maxilla in Association with Gorlin-Goltz (Nevoid Basal-Cell Carcinoma) Syndrome: A Pediatric Case Report and Follow-up over 5 Years
Santander P, Schwaibold EMC, Bremmer F, Batschkus S, Kauffmann P
Case Rep Dent 2018: 7594840, doi: 10.1155/2018/7594840

Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome
Schmidt J, Wollnik B
Am J Med Genet C 2018, 178(4): 398-406, doi: 10.1002/ajmg.c.31668

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22
Schnabel F, Smogavec M, Funke R, Pauli S, Burfeind P, Bartels I
Mol Cytogenet 2018, 11: 62, doi: 10.1186/s13039-018-0410-4

Sema3a plays a role in the pathogenesis of CHARGE syndrome
Ufartes R, Schwenty-Lara J, Freese L, Neuhofer C, Möller J, Wehner P, van Ravenswaaij-Arts CMA, Wong MTY, Schanze I, Tzschach A, Bartsch O, Borchers A, Pauli S
Hum Mol Genet 2018, 27(8): 1343-1352, doi: 10.1093/hmg/ddy045

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
van der Sluijs EPJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Mujgan Sonmez F, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE
Genet Med 2018, doi: 10.1038/s41436-018-0330-z

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, Bramswig NC, Albrecht B, Clayton-Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altmüller J, Li Y, Wollnik B, Hoganson G, Plona MR, Cho MT, Deciphering Developmental Disorders Study, Thiel CT, Lüdecke HJ, Strom TM, Calpena E, Wilkie AOM, Wieczorek D, Engel FB, Reis A
Am J Hum Genet 2018, 102(3): 468-479, doi: 10.1016/j.ajhg.2018.01.014

Indian Hedgehog Suppresses a Stromal Cell-Driven Intestinal Immune Response
Westendorp BF, Büller NVJA, Karpus ON, van Dop WA, Koster J, Versteeg R, Koelink PJ, Snel CY, Meisner S, Roelofs JJTH, Uhmann A, Ver Loren van Themaat E, Heijmans J, Hahn H, Muncan V, Wildenberg ME, van den Brink GR
Cell Mol Gastroenterol Hepatol 2018, 5(1): 67-82.e1, doi: 10.1016/j.jcmgh.2017.08.004

Ultra-structure of the sperm head-to-tail linkage complex in the absence of the spermatid-specific LINC component SPAG4
Yang K, Adham IM, Meinhardt A, Hoyer-Fender S
Histochem Cell Biol 2018, 150(1): 49-59, doi: 10.1007/s00418-018-1668-7

2017

Ligand-dependent Hedgehog pathway activation in Rhabdomyosarcoma: the oncogenic role of the ligands
Almazán-Moga A, Zarzosa P, Molist C, Velasco P, Pyczek J, Simon-Keller K, Giralt I, Vidal I, Navarro N, Segura MF, Soriano A, Navarro S, Tirado OM, Ferreres JC, Santamaria A, Rota R, Hahn H, Sánchez de Toledo J, Roma J, Gallego S
Brit J Cancer 2017, 117(9):1314-1325. doi: 10.1038/bjc.2017.305

Catecholamine-dependent β-adrenergic signaling in a pluripotent stem cell model of Takotsubo cardiomyopathy
Borchert T, Hübscher D, Guessoum CI, Lam TDD, Ghadri JR, Schellinger IN, Tiburcy M, Liaw NY, Li Y, Haas J, Sossalla S, Huber MA, Cyganek L, Jacobshagen C, Dressel R, Raaz U, Nikolaev VO, Guan K, Thiele H, Meder B, Wollnik B, Zimmermann WH, Lüscher TF, Hasenfuss G, Templin C, Streckfuss-Bömeke K
J Am Coll Cardiol 2017, 70(8):975-991. doi: 10.1016/j.jacc.2017.06.061

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
Bramswig NC, Lüdecke HJ, Hamdan FF, Altmüller J, Beleggia F, Elcioglu NH, Freyer C, Gerkes EH, Demirkol YK, Knupp KG, Kuechler A, Li Y, Lowenstein DH, Michaud JL, Park K, Stegmann AP, Veenstra-Knol HE, Wieland T, Wollnik B, Engels H, Strom TM, Kleefstra T, Wieczorek D
Hum Genet 2017, 136(7):821-834. doi: 10.1007/s00439-017-1795-6.

Hypothalamic sonic hedgehog is required for cell specification and proliferation of LHX3/LHX4 pituitary embryonic precursors
Carreno G, Apps JR, Lodge EJ, Panousopoulos L, Haston S, Gonzalez-Meljem JM, Hahn H, Andoniadou CL, Martinez-Barbera JP
Development 2017, 144(18):3289-3302. doi: 10.1242/dev.153387

Genetische Diagnostik bei Kardiomyopathien
Czepluch F, Wollnik B, Hasenfuß G
Dtsch Med Wochenschr 2017, 142(9):657-664. doi: 10.1055/s-0042-112183.

LEF1 reduces tumor progression and induces myodifferentiation in a subset of rhabdomyosarcoma
Dräger J, Simon-Keller K, Pukrop T, Klemm F, Wilting J, Sticht C, Dittmann K, Schulz M, Leuschner I, Marx A, Hahn H
Oncotarget 2017, 8(2): 3259-3273. doi: 10.18632/oncotarget.13887

De novo mutations in SLC25A24 cause a craniosynostosis cyndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction
Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U
Am J Hum Genet 2017, 101(5):833-843. doi: 10.1016/j.ajhg.2017.09.016

Prospects of estrogen receptor β activation in the treatment of castration-resistant prostate cancer
Gehrig J, Kaulfuß S, Jarry H, Bremmer F, Stettner M, Burfeind P, Thelen P
Oncotarget 2017, 8(21):34971-34979.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B
Nat Genet 2017, 49(2):249-255. doi: 10.1038/ng.3765.

Efficient killing of murine pluripotent stem cells by natural killer (NK) cells requires activation by cytokines and partly depends on the activating NK receptor NKG2D
Gröschel C, Hübscher D, Nolte J, Monecke S, Sasse A, Elsner L, Paulus W, Trenkwalder C, Polić B, Mansouri A, Guan K, Dressel R
Front Immunol 2017, 8:870. doi: 10.3389/fimmu.2017.00870

Novel compound heterozygous mutations in TELO2 in patient with severe expression of You-Hoover-Fong syndrome
Moosa S, Altmüller J, Lyngbye T, Christensen R, Li Y, Nürnberg P, Yigit G, Vogel I, Wollnik B
Mol Genet Genomic Med 2017, 5(5):580-584. doi: 10.1002/mgg3.287

Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism
Moosa S, Böhrer-Rabel H, Altmüller J, Beleggia F, Nürnberg P, Li Y, Yigit G, Wollnik B
Am J Med Genet A 2017, 173(1):264-267. doi: 10.1002/ajmg.a.37999

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2
Moosa S, Haagerup A, Gregersen PA, Petersen KK, Altmüller J, Thiele H, Nürnberg P, Cho TJ, Kim OH, Nishimura G, Wollnik B, Vogel I
Am J Med Genet Part A 2017, 173A:1102–110. doi: 10.1002/ajmg.a.38116

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum
Moosa S, Loeys B, Altmüller J, Mortier G, Nürnberg P, Li Y, Wollnik B, Vogel I
Clin Genet 2017, Mar 30. doi: 10.1111/cge.12990. [Epub ahead of print]

Simultaneous inhibition of IGF1R and EGFR enhances the efficacy of standard treatment for colorectal cancer by the impairment of DNA repair and the induction of cell death
Oberthür R, Seemann H, Gehrig J, Rave-Fränk M, Bremmer F, Halpape R, Conradi LC, Scharf JG, Burfeind P, Kaulfuß S
Cancer Lett 2017, 407:93-105. doi: 10.1016/j.canlet.2017.08.009

Wiedemann-Rautenstrauch syndrome: A phenotype analysis
Paolacci S, Bertola D, Franco J, Mohammed S, Tartaglia M, Wollnik B, Hennekam RC
Am J Med Genet A 2017, Apr 26. doi: 10.1002/ajmg.a.38246. [Epub ahead of print]

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
Parenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Bader I, Braunholz D, Bramswig NC, Gervasini C, Larizza L, Pfeiffer L, Ozkinay F, Ramos F, Reiz B, Rittinger O, Strom TM, Watrin E, Wendt K, Wieczorek D, Wollnik B, Baquero-Montoya C, Pié J, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ
Hum Genet 2017 Mar;136(3):307-320. doi: 10.1007/s00439-017-1758-y.

CHARGEd with neural crest defects
Pauli S, Bajpai R, Borchers A
Am J Med Genet C 2017, 175(4):478-486. doi: 10.1002/ajmg.c.31584

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy
Pinggera A, Mackenroth L, Rump A, Schallner J, Beleggia F, Wollnik B, Striessnig J
Hum Mol Genet 2017, May 4. doi: 10.1093/hmg/ddx175. [Epub ahead of print]

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS
Nat Genet 2017, 49(4):537-549. doi: 10.1038/ng.3790.

Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset
Smogavec M, Zschüntzsch J, Kress W, Mohr J, Hellen P, Zoll B, Pauli S, Schmidt J
Neurol Genet 2017, 3(4): e167. doi: 10.1212/NXG.0000000000000167.

CDK10 mutations in humans and mice cause severe growth retardation, spine malformations, and developmental delays
Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmüller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P
Am J Hum Genet 2017, 101(3): 391-403. doi: 10.1016/j.ajhg.2017.08.003

2016

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product
Altmüller J, Motameny S, Becker C, Thiele H, Chatterjee S, Wollnik B, Nürnberg P
Biol Chem 2016, 397(8): 791-801, doi: 10.1515/hsz-2015-0300

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity
Bögershausen N, Altunoglu U, Beleggia F, Yigit G, Kayserili H, Nürnberg P, Li Y, Altmüller J, Wollnik B
Am J Med Genet A 2016, 170(12): 3282-3288, doi: 10.1002/ajmg.a.37931

Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2
Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B
Hum Mutat 2016, 37(9): 847-64, doi: 10.1002/humu.23026

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
Boppudi S, Bögershausen N, Hove HB, Percin EF, Aslan D, Dvorsky R, Kayhan G, Li Y, Cursiefen C, Tantcheva-Poor I, Toft PB, Bartsch O, Lissewski C, Wieland I, Jakubiczka S, Wollnik B, Ahmadian MR, Heindl LM, Zenker M
Clin Genet 2016, doi: 10.1111/cge.12775 [Epub ahead of print]

Hedgehog controls quiescence and activation of neural stem cells in the adult ventricular-subventricular zone
Daynac M, Tirou L, Faure H, Mouthon MA, Gauthier LR, Hahn H, Boussin FD, Ruat M
Stem Cell Rep 2016, 7(4): 735-748, doi: 10.1016/j.stemcr.2016.08.016

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
Di Donato N, Kuechler A, Velgano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB
Am J Med Genet A 2016, doi: 10.1002/ajmg.a.37771 [Epub ahead of print]

Pelota Regulates Epidermal Differentiation by Modulating BMP and PI3K/AKT Signaling Pathways
Elkenani M, Nyamsuren G, Raju P, Liakath-Ali K, Hamdaoui A, Kata A, Dressel R, Klonisch T, Watt FM, Engel W, Thliveris JA, Pantakani DVK, Adham IM
J Invest Dermatol 2016, doi: 10.1016/j.jid.2016.04.020 [Epub ahead of print]

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP
Nat Genet 2016, 48(1): 36-43, doi: 10.1038/ng.3451

Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit
Hatzold J, Beleggia F, Herzig H, Altmüller J, Nürnberg P, Bloch W, Wollnik B, Hammerschmidt M
ELIFE 2016, 5, doi: 10.7554/eLife.14277

Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients
Jakubiczka-Smorag J, Santamaria-Araujo JA, Metz I, Kumar A, Hakroush S, Brueck W, Schwarz G, Burfeind P, Reiss J, Smorag L
Hum Genet 2016, 135(7): 813-26, doi: 10.1007/s00439-016-1676-4

Polyhydramnios, transient antenatal Bartter’s syndrome, and MAGED2 mutations
Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJM, Rinschen MM, de Backer O, Konrad M, Kömhoff M
New Engl J Med 2016, 374(19): 1853-63, doi: 10.1056/NEJMoa1507629

Arsenic trioxide induces Noxa-dependent apoptosis in rhabdomyosarcoma cells and synergizes with antimicrotubule drugs
Meister MT, Boedicker C, Graab U, Hugle M, Hahn H, Klingebiel T, Fulda S
Cancer Lett 2016, 381(2): 287-295, doi: 10.1016/j.canlet.2016.07.007

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival
Moosa S, Fano V, Obregon MG, Altmüller J, Thiele H, Nürnberg P, Nishimura G, Wollnik B
Am J Med Genet A 2016, doi: 10.1002/ajmg.a.37823 [Epub ahead of print]

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum
Moosa S, Obregon MG, Altmüller J, Thiele H, Nürnberg P, Fano V, Wollnik B
Am J Med Genet A 2016, 170(5):1295-301. doi: 10.1002/ajmg.a.37570

Hedgehog signaling activation induces stem cell proliferation and hormone release in the adult pituitary gland
Pyczek J, Buslei R, Schult D, Hölsken A, Buchfelder M, Heß I, Hahn H, Uhmann A
Sci Rep 2016, 6: 24928, doi: 10.1038/srep24928.

Prognostic value of CXCL12 and CXCR4 in inoperable head and neck squamous cell carcinoma
Rave-Fränk M, Tehrany N, Kitz J, Leu M, Weber HE, Burfeind P, Schliephake H, Canis M, Beissbarth T, Reichardt HM, Wolff HA
Strahlenther Onkol 2016, 192(1): 47-54, doi: 10.1007/s00066-015-0892-5.

Molybdenum Cofactor and Sulfite Oxidase Deficiency
Reiss J
Metabolomics 2016, 6(2). doi: 10.4172/2153-0769.1000184

A thanatophoric dysplasia type I case with a FGFR3 p.R248C mutation and survival beyond the neonatal period
Sahin S, Ograg H, Atas Aslan E, Akcan AB, Kaynak Turkmen M, Moosa S and Elcioglu NH
Genetic Counseling 2016, 27(4):513-515.

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, Benoit V, Maystadt I, Noakes C, Leal A, Shaw M, Gecz J, Raymond L, Reis A, Shears D, Brockmann K, Zweier C
J Med Genet 2016, 53(12): 820-827, doi: 10.1136/jmedgenet-2016-103880

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