Works matching AU Wollnik, Bernd

Results: 86

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 5, p. 580, doi. 10.1002/mgg3.287

By:

Moosa, Shahida;
Altmüller, Janine;
Lyngbye, Troels;
Christensen, Rikke;
Li, Yun;
Nürnberg, Peter;
Yigit, Gökhan;
Vogel, Ida;
Wollnik, Bernd

Publication type:

Article

Mutations in CDK5 RAP2 cause Seckel syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 5, p. 467, doi. 10.1002/mgg3.158

By:

Yigit, Gökhan;
Brown, Karen E.;
Kayserili, Hülya;
Pohl, Esther;
Caliebe, Almuth;
Zahnleiter, Diana;
Rosser, Elisabeth;
Bögershausen, Nina;
Uyguner, Zehra Oya;
Altunoglu, Umut;
Nürnberg, Gudrun;
Nürnberg, Peter;
Rauch, Anita;
Li, Yun;
Thiel, Christian Thomas;
Wollnik, Bernd

Publication type:

Article

TP53 -Status-Dependent Oncogenic EZH2 Activity in Pancreatic Cancer.

Published in:

Cancers, 2022, v. 14, n. 14, p. N.PAG, doi. 10.3390/cancers14143451

By:

Versemann, Lennart;
Patil, Shilpa;
Steuber, Benjamin;
Zhang, Zhe;
Kopp, Waltraut;
Krawczyk, Hannah Elisa;
Kaulfuß, Silke;
Wollnik, Bernd;
Ströbel, Philipp;
Neesse, Albrecht;
Singh, Shiv K.;
Ellenrieder, Volker;
Hessmann, Elisabeth

Publication type:

Article

KRAS<sup>G</sup><sup>12C</sup>‐inhibitor‐based combination therapies for pancreatic cancer: insights from drug screening.

Published in:

Molecular Oncology, 2025, v. 19, n. 2, p. 295, doi. 10.1002/1878-0261.13725

By:

Tapia Contreras, Constanza;
Falke, Jonas Dominik;
Seifert, Dana‐Magdalena;
Schneider, Carolin;
Krauß, Lukas;
Fang, Xin;
Müller, Denise;
Demirdizen, Engin;
Spitzner, Melanie;
De Oliveira, Tiago;
Schneeweis, Christian;
Gaedcke, Jochen;
Kaulfuß, Silke;
Mirzakhani, Kimia;
Wollnik, Bernd;
Conrads, Karly;
Beißbarth, Tim;
Salinas, Gabriela;
Hügel, Jonas;
Beyer, Nils

Publication type:

Article

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product.

Published in:

Biological Chemistry, 2016, v. 397, n. 8, p. 791, doi. 10.1515/hsz-2015-0300

By:

Altmüller, Janine;
Motameny, Susanne;
Becker, Christian;
Thiele, Holger;
Chatterjee, Sreyoshi;
Wollnik, Bernd;
Nürnberg, Peter

Publication type:

Article

Definition of the phenotypic spectrum of Temtamy preaxial brachydactyly syndrome associated with autosomal recessive CHYS1 mutations.

Published in:

Middle East Journal of Medical Genetics, 2012, v. 1, n. 2, p. 64, doi. 10.1097/01.MXE.0000414918.78299.94

By:

Temtamy, Samia;
Aglan, Mona;
Topaloglu, A. Kemal;
Wollnik, Bernd;
Amr, Khalda;
El-Badry, Tarek H.;
Hosny, Gamal A.;
Eldin, Nermine Salah;
Shboul, Mohammad;
Herdem, Mustafa;
Ong, Junxian;
Reversade, Bruno;
Tian, Jing

Publication type:

Article

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.

Published in:

Human Genetics, 2013, v. 132, n. 11, p. 1311, doi. 10.1007/s00439-013-1337-9

By:

Pohl, Esther;
Aykut, Ayca;
Beleggia, Filippo;
Karaca, Emin;
Durmaz, Burak;
Keupp, Katharina;
Arslan, Esra;
Onay, Melis;
Yigit, Gökhan;
Özkinay, Ferda;
Wollnik, Bernd

Publication type:

Article

Erratum to: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.

Published in:

2013

By:

Pohl, Esther;
Aykut, Ayca;
Beleggia, Filippo;
Karaca, Emin;
Durmaz, Burak;
Keupp, Katharina;
Arslan, Esra;
Palamar, Melis;
Yigit, Gökhan;
Özkinay, Ferda;
Wollnik, Bernd

Publication type:

Correction Notice

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

Published in:

Human Genetics, 2011, v. 129, n. 1, p. 45, doi. 10.1007/s00439-010-0896-2

By:

Borck, Guntram;
Wunram, Heidrun;
Steiert, Angela;
Volk, Alexander E.;
Körber, Friederike;
Roters, Sigrid;
Herkenrath, Peter;
Wollnik, Bernd;
Morris-Rosendahl, Deborah J.;
Kubisch, Christian

Publication type:

Article

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.

Published in:

Human Genetics, 2005, v. 118, n. 2, p. 261, doi. 10.1007/s00439-005-0026-8

By:

Chefetz, Ilana;
Heller, Raoul;
Galli-Tsinopoulou, Assimina;
Richard, Gabriele;
Wollnik, Bernd;
Indelman, Margarita;
Koerber, Friederike;
Topaz, Orit;
Bergman, Reuven;
Sprecher, Eli;
Schoenau, Eckhard

Publication type:

Article

Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 13, p. 2185, doi. 10.1093/hmg/ddab373

By:

Gönenc, Ipek Ilgin;
Wolff, Alexander;
Schmidt, Julia;
Zibat, Arne;
Müller, Christian;
Cyganek, Lukas;
Argyriou, Loukas;
Räschle, Markus;
Yigit, Gökhan;
Wollnik, Bernd

Publication type:

Article

Doxorubicin induces cardiotoxicity in a pluripotent stem cell model of aggressive B cell lymphoma cancer patients.

Published in:

Basic Research in Cardiology, 2022, v. 117, n. 1, p. 1, doi. 10.1007/s00395-022-00918-7

By:

Haupt, Luis Peter;
Rebs, Sabine;
Maurer, Wiebke;
Hübscher, Daniela;
Tiburcy, Malte;
Pabel, Steffen;
Maus, Andreas;
Köhne, Steffen;
Tappu, Rewati;
Haas, Jan;
Li, Yun;
Sasse, Andre;
Santos, Celio C. X.;
Dressel, Ralf;
Wojnowski, Leszek;
Bunt, Gertrude;
Möbius, Wiebke;
Shah, Ajay M.;
Meder, Benjamin;
Wollnik, Bernd

Publication type:

Article

Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes.

Published in:

Human Genetics, 2024, v. 143, n. 2, p. 159, doi. 10.1007/s00439-023-02634-1

By:

Schmidt, Julia;
Kaulfuß, Silke;
Ott, Hagen;
Gaubert, Marianne;
Reintjes, Nadine;
Bremmer, Felix;
Dreha-Kulaczewski, Steffi;
Stroebel, Philipp;
Yigit, Gökhan;
Wollnik, Bernd

Publication type:

Article

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.

Published in:

Human Genetics, 2023, v. 142, n. 4, p. 543, doi. 10.1007/s00439-023-02528-2

By:

Schnabel, Franziska;
Schuler, Elisabeth;
Al-Maawali, Almundher;
Chaurasia, Ankur;
Syrbe, Steffen;
Al-Kindi, Adila;
Bhavani, Gandham SriLakshmi;
Shukla, Anju;
Altmüller, Janine;
Nürnberg, Peter;
Banka, Siddharth;
Girisha, Katta M.;
Li, Yun;
Wollnik, Bernd;
Yigit, Gökhan

Publication type:

Article

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.

Published in:

Human Genetics, 2020, v. 139, n. 11, p. 1363, doi. 10.1007/s00439-020-02175-x

By:

Ufartes, Roser;
Berger, Hanna;
Till, Katharina;
Salinas, Gabriela;
Sturm, Marc;
Altmüller, Janine;
Nürnberg, Peter;
Thiele, Holger;
Funke, Rudolf;
Apeshiotis, Neophytos;
Langen, Hendrik;
Wollnik, Bernd;
Borchers, Annette;
Pauli, Silke

Publication type:

Article

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

Published in:

Human Genetics, 2017, v. 136, n. 7, p. 821, doi. 10.1007/s00439-017-1795-6

By:

Bramswig, Nuria;
Lüdecke, Hermann-Josef;
Hamdan, Fadi;
Altmüller, Janine;
Beleggia, Filippo;
Elcioglu, Nursel;
Freyer, Catharine;
Gerkes, Erica;
Demirkol, Yasemin;
Knupp, Kelly;
Kuechler, Alma;
Li, Yun;
Lowenstein, Daniel;
Michaud, Jacques;
Park, Kristen;
Stegmann, Alexander;
Veenstra-Knol, Hermine;
Wieland, Thomas;
Wollnik, Bernd;
Engels, Hartmut

Publication type:

Article

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

Published in:

Human Genetics, 2017, v. 136, n. 3, p. 307, doi. 10.1007/s00439-017-1758-y

By:

Parenti, Ilaria;
Teresa-Rodrigo, María;
Pozojevic, Jelena;
Ruiz Gil, Sara;
Bader, Ingrid;
Braunholz, Diana;
Bramswig, Nuria;
Gervasini, Cristina;
Larizza, Lidia;
Pfeiffer, Lutz;
Ozkinay, Ferda;
Ramos, Feliciano;
Reiz, Benedikt;
Rittinger, Olaf;
Strom, Tim;
Watrin, Erwan;
Wendt, Kerstin;
Wieczorek, Dagmar;
Wollnik, Bernd;
Baquero-Montoya, Carolina

Publication type:

Article

Evaluation of growth, puberty, osteoporosis, and the response to long‐term bisphosphonate therapy in four patients with osteoporosis‐pseudoglioma syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2061, doi. 10.1002/ajmg.a.62742

By:

Karakilic‐Ozturan, Esin;
Altunoglu, Umut;
Ozturk, Ayse Pinar;
Kardelen Al, Asli Derya;
Yavas Abali, Zehra;
Avci, Sahin;
Wollnik, Bernd;
Poyrazoglu, Sukran;
Bas, Firdevs;
Uyguner, Zehra Oya;
Kayserili, Hülya;
Darendeliler, Feyza

Publication type:

Article

Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings.

Published in:

Journal of Neurology, 2009, v. 256, n. 3, p. 416, doi. 10.1007/s00415-009-0094-0

By:

Durmaz, Burak;
Wollnik, Bernd;
Cogulu, Ozgur;
Yun Li;
Tekgul, Hasan;
Hazan, Filiz;
Ozkinay, Ferda

Publication type:

Article

Hereditäres Angioödem in einer Familie mit spezifischen Mutationen sowohl im Plasminogen‐ als auch im SERPING1‐Gen.

Published in:

Journal der Deutschen Dermatologischen Gesellschaft, 2020, v. 18, n. 3, p. 215, doi. 10.1111/ddg.14036_g

By:

Bork, Konrad;
Zibat, Arne;
Ferrari, David M.;
Wollnik, Bernd;
Schön, Michael P.;
Wulff, Karin;
Lippert, Undine

Publication type:

Article

Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes.

Published in:

Journal der Deutschen Dermatologischen Gesellschaft, 2020, v. 18, n. 3, p. 215, doi. 10.1111/ddg.14036

By:

Bork, Konrad;
Zibat, Arne;
Ferrari, David M.;
Wollnik, Bernd;
Schön, Michael P.;
Wulff, Karin;
Lippert, Undine

Publication type:

Article

A specific mutation in the distant sonic hedgehog ( SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.

Published in:

Human Mutation, 2010, v. 31, n. 1, p. 81, doi. 10.1002/humu.21142

By:

Wieczorek, Dagmar;
Pawlik, Barbara;
Li, Yun;
Akarsu, Nurten A.;
Caliebe, Almuth;
May, Klaus J.W.;
Schweiger, Bernd;
Vargas, Fernando R.;
Balci, Sevim;
Gillessen-Kaesbach, Gabriele;
Wollnik, Bernd

Publication type:

Article

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling.

Published in:

Human Mutation, 2009, v. 30, n. 12, p. 1667, doi. 10.1002/humu.21117

By:

Valencia, Maria;
Lapunzina, Pablo;
Lim, Derek;
Zannolli, Raffaella;
Bartholdi, Deborah;
Wollnik, Bernd;
Al-Ajlouni, Othman;
Eid, Suhair S.;
Cox, Helen;
Buoni, Sabrina;
Hayek, Joseph;
Martinez-Frias, Maria L.;
Antonio, Perez-Aytes;
Temtamy, Samia;
Aglan, Mona;
Goodship, Judith A.;
Ruiz-Perez, Victor L.

Publication type:

Article

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 641, doi. 10.1002/humu.20916

By:

Chung, Boi-Dinh;
Kayserili, Hülya;
Ai, Minrong;
Freudenberg, Jan;
Üzümcü, Abdullah;
Uyguner, Oya;
Bartels, Cynthia F.;
Höning, Stefan;
Ramirez, Alfredo;
Hanisch, Franz-Georg;
Nürnberg, Gudrun;
Nürnberg, Peter;
Warman, Matthew L.;
Wollnik, Bernd;
Kubisch, Christian;
Netzer, Christian

Publication type:

Article

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 718, doi. 10.1002/humu.20510

By:

Collin, Rob W.J.;
Kalay, Ersan;
Oostrik, Jaap;
Çaylan, Refik;
Wollnik, Bernd;
Arslan, Selçuk;
den Hollander, Anneke I.;
Birinci, Yelda;
Lichtner, Peter;
Strom, Tim M.;
Toraman, Bayram;
Hoefsloot, Lies H.;
Cremers, Cor W.R.J.;
Brunner, Han G.;
Cremers, Frans P.M.;
Karaguzel, Ahmet;
Kremer, Hannie

Publication type:

Article

Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 321, doi. 10.1002/humu.20089

By:

Hering, Robert;
Strauss, Karsten M.;
Tao, Xiao;
Bauer, Andreas;
Woitalla, Dirk;
Mietz, Eva-Maria;
Petrovic, Slobodanka;
Bauer, Peter;
Schaible, Wilhelm;
Müller, Thomas;
Schöls, Ludger;
Klein, Christine;
Berg, Daniela;
Meyer, Philipp T.;
Schulz, Jörg B.;
Wollnik, Bernd;
Tong, Liang;
Krüger, Rejko;
Riess, Olaf

Publication type:

Article

The antihistamine fexofenadine does not affect I[sub Kr] currents in a case report of drug-induced cardiac arrhythmia.

Published in:

British Journal of Pharmacology, 2002, v. 137, n. 6, p. 892, doi. 10.1038/sj.bjp.0704873

By:

Scherer, Constanze R.;
Lerche, Christian;
Decher, Niels;
Dennis, Adrienne T.;
Maier, Patrick;
Ficker, Eckhard;
Busch, Andreas E.;
Wollnik, Bernd;
Steinmeyer, Klaus

Publication type:

Article

hKChIP2 is a functional modifier of hKv4.3 potassium channels.

Published in:

Cardiovascular Research, 2001, v. 52, n. 2, p. 255, doi. 10.1016/S0008-6363(01)00374-1

By:

Decher, Niels;
Uyguner, Oya;
Scherer, Constanze R;
Karaman, Birsen;
Yüksel-Apak, Memnune;
Busch, Andreas E;
Steinmeyer, Klaus;
Wollnik, Bernd

Publication type:

Article

Catching up but still miles behind—a patient registry for otoferlin.

Published in:

2024

By:

Vona, Barbara;
Wollnik, Bernd;
Strenzke, Nicola;
Moser, Tobias

Publication type:

Letter

Survey of germline variants in cancer‐associated genes in young adults with colorectal cancer.

Published in:

Genes, Chromosomes & Cancer, 2022, v. 61, n. 2, p. 105, doi. 10.1002/gcc.23011

By:

Mikaeel, Reger R.;
Young, Joanne P.;
Li, Yun;
Smith, Eric;
Horsnell, Mehgan;
Uylaki, Wendy;
Tapia Rico, Gonzalo;
Poplawski, Nicola K.;
Hardingham, Jennifer E.;
Tomita, Yoko;
Townsend, Amanda R.;
Feng, Jinghua;
Zibat, Arne;
Kaulfuß, Silke;
Müller, Christian;
Yigit, Gökhan;
Wollnik, Bernd;
Price, Timothy J.

Publication type:

Article

A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-07874-1

By:

Shomroni, Orr;
Sitte, Maren;
Schmidt, Julia;
Parbin, Sabnam;
Ludewig, Fabian;
Yigit, Gökhan;
Zelarayan, Laura Cecilia;
Streckfuss-Bömeke, Katrin;
Wollnik, Bernd;
Salinas, Gabriela

Publication type:

Article

Hallermann–Streiff syndrome: A missing molecular link for a highly recognizable syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 398, doi. 10.1002/ajmg.c.31668

By:

Schmidt, Julia;
Wollnik, Bernd

Publication type:

Article

3D Super-Resolution Nuclear Q-FISH Imaging Reveals Cell-Cycle-Related Telomere Changes.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3183, doi. 10.3390/ijms25063183

By:

Pochechueva, Tatiana V.;
Schwenzer, Niko;
Kohl, Tobias;
Brandenburg, Sören;
Kaltenecker, Gesa;
Wollnik, Bernd;
Lehnart, Stephan E.

Publication type:

Article

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.

Published in:

Fetal Diagnosis & Therapy, 2024, v. 51, n. 3, p. 285, doi. 10.1159/000536324

By:

Senturk, Leyli;
Gulec, Cagri;
Sarac Sivrikoz, Tugba;
Kayserili, Hulya;
Kalelioglu, Ibrahim Halil;
Avci, Sahin;
Has, Recep;
Coucke, Paul;
Kalayci, Tugba;
Wollnik, Bernd;
Karaman, Birsen;
Toksoy, Guven;
Symoens, Sofie;
Yigit, Gokhan;
Yuksel, Atil;
Basaran, Seher;
Tuysuz, Beyhan;
Altunoglu, Umut;
Uyguner, Zehra Oya

Publication type:

Article

GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION.

Published in:

Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2022, v. 85, n. 2, p. 162, doi. 10.26650/IUITFD.1011501

By:

GÜLEÇ, Çağrı;
ASLANGER, Ayça Dilruba;
KARAMAN, Volkan;
WOLLNIK, Bernd;
TEPGEÇ, Fatih;
KAYSERİLİ, Hülya;
Oya UYGUNER, Z.

Publication type:

Article

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.

Published in:

Nucleic Acids Research, 2019, v. 47, n. 6, p. 2822, doi. 10.1093/nar/gkz005

By:

Dion, Camille;
Roche, Stéphane;
Laberthonnière, Camille;
Broucqsault, Natacha;
Mariot, Virginie;
Xue, Shifeng;
Gurzau, Alexandra D;
Nowak, Agnieszka;
Gordon, Christopher T;
Gaillard, Marie-Cécile;
El-Yazidi, Claire;
Thomas, Morgane;
Schlupp-Robaglia, Andrée;
Missirian, Chantal;
Malan, Valérie;
Ratbi, Liham;
Sefiani, Abdelaziz;
Wollnik, Bernd;
Binetruy, Bernard;
Salort Campana, Emmanuelle

Publication type:

Article

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.

Published in:

Molecular Syndromology, 2020, v. 11, n. 1, p. 30, doi. 10.1159/000505797

By:

Neuhofer, Christiane M.;
Funke, Rudolf;
Wilken, Bernd;
Knaus, alexej;
altmüller, Janine;
Nürnberg, Peter;
Li, Yun;
Wollnik, Bernd;
Burfeind, Peter;
Pauli, Silke

Publication type:

Article

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 484, doi. 10.1111/cge.14290

By:

Averdunk, Luisa;
Al‐Thihli, Khalid;
Surowy, Harald;
Lüdecke, Hermann‐Josef;
Drechsler, Matthias;
Yigit, Gökhan;
Smorag, Lukasz;
Al Hallak, Bassam;
Li, Yun;
Altmüller, Janine;
Guthoff, Tanja;
Wallot, Michael;
Nürnberg, Peter;
Wollnik, Bernd;
Jamra, Rami Abou;
Al‐Maawali, Almundher;
Wieczorek, Dagmar

Publication type:

Article

Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome.

Published in:

Clinical Genetics, 2022, v. 102, n. 3, p. 239, doi. 10.1111/cge.14174

By:

Schmidt, Julia;
Bremmer, Felix;
Brockmann, Knut;
Kaulfuß, Silke;
Wollnik, Bernd

Publication type:

Article

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.

Published in:

Clinical Genetics, 2022, v. 101, n. 5/6, p. 559, doi. 10.1111/cge.14125

By:

Gönenc, Ipek Ilgin;
Elcioglu, Nursel H.;
Grijalva, Carolina Martinez;
Aras, Seda;
Großmann, Nadine;
Praulich, Inka;
Altmüller, Janine;
Kaulfuß, Silke;
Yun Li;
Nürnberg, Peter;
Burfeind, Peter;
Yigit, Gökhan;
Wollnik, Bernd

Publication type:

Article

RNF43 pathogenic Germline variant in a family with colorectal cancer.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 122, doi. 10.1111/cge.14064

By:

Mikaeel, Reger R.;
Young, Joanne P.;
Li, Yun;
Poplawski, Nicola K.;
Smith, Eric;
Horsnell, Mehgan;
Uylaki, Wendy;
Tomita, Yoko;
Townsend, Amanda R.;
Feng, Jinghua;
Zibat, Arne;
Kaulfuß, Silke;
Müller, Christian;
Yigit, Gökhan;
Wollnik, Bernd;
Scott, Hamish;
Rawlings, Lesley;
Henry, Denae;
Vakulin, Cassandra;
Dubowsky, Andrew

Publication type:

Article

Premature aging disorders: A clinical and genetic compendium.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 3, doi. 10.1111/cge.13837

By:

Schnabel, Franziska;
Kornak, Uwe;
Wollnik, Bernd

Publication type:

Article

A large duplication involving the IHH locus mimics acrocallosal syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 6, p. 639, doi. 10.1038/ejhg.2011.250

By:

Yuksel-Apak, Memnune;
Bögershausen, Nina;
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Li, Yun;
Apak, Selcuk;
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Nürnberg, Gudrun;
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Journal of Bone & Mineral Research, 2014, v. 29, n. 6, p. 1387, doi. 10.1002/jbmr.2156

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Hoyer-Kuhn, Heike;
Semler, Oliver;
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EP: Europace, 2006, v. 8, n. 4, p. 241, doi. 10.1093/europace/eul012

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New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.

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Human Molecular Genetics, 2017, v. 26, n. 15, p. 2923, doi. 10.1093/hmg/ddx175

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Pinggera, Alexandra;
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Beleggia, Filippo;
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Striessnig, Jö rg

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Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.

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Human Molecular Genetics, 2015, v. 24, n. 13, p. 3708, doi. 10.1093/hmg/ddv115

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Rosin, Nadine;
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Thiele, Holger;
Steindl, Katharina;
Joset, Pascal;
Rauch, Anita;
Nürnberg, Peter;
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CRIM1 haploinsufficiency causes defects in eye development in human and mouse.

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Human Molecular Genetics, 2015, v. 24, n. 8, p. 2267, doi. 10.1093/hmg/ddu744

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Beleggia, Filippo;
Yun Li;
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Wieland, Thomas;
Maumenee, Irene H.;
Akarsu, Nurten A.;
Meitinger, Thomas;
Strom, Tim M.;
Lang, Richard;
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CHARGE and Kabuki syndromes: a phenotypic and molecular link.

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Human Molecular Genetics, 2014, v. 23, n. 16, p. 4396, doi. 10.1093/hmg/ddu156

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Zoll, Barbara;
Völter, Christiane;
Brockmann, Knut;
Bögershausen, Nina;
Becker, Jutta;
Wollnik, Bernd;
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CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.

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Human Molecular Genetics, 2013, v. 22, n. 25, p. 5199, doi. 10.1093/hmg/ddt374

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Hussain, Muhammad S.;
Baig, Shahid M.;
Neumann, Sascha;
Peche, Vivek S.;
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Tariq, Muhammad;
Jameel, Muhammad;
Khan, Tahir N.;
Fatima, Ambrin;
Malik, Naveed A.;
Ahmad, Ilyas;
Altmüller, Janine;
Frommolt, Peter;
Thiele, Holger;
Höhne, Wolfgang;
Yigit, Gökhan;
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