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Journal Article
Boegershausen, Nina, Altunoglu, Umut ORCID: 0000-0002-3172-5368, Beleggia, Filippo
ORCID: 0000-0003-0234-7094, Yigit, Goekhan, Kayserili, Huelya, Nuernberg, Peter, Li, Yun, Altmueller, Janine and Wollnik, Bernd
(2016).
An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity.
Am. J. Med. Genet. A, 170 (12).
S. 3282 - 3289.
HOBOKEN:
WILEY.
ISSN 1552-4833
Boegershausen, Nina, Gatinois, Vincent, Riehmer, Vera, Kayserili, Huelya, Becker, Jutta, Thoenes, Michaela, Simsek-Kiper, Pelin OEzlem, Barat-Houari, Mouna, Elcioglu, Nursel H., Wieczorek, Dagmar, Tinschert, Sigrid, Sarrabay, Guillaume ORCID: 0000-0002-9943-9368, Strom, Tim M., Fabre, Aurelie, Baynam, Gareth, Sanchez, Elodie, Nuernberg, Gudrun, Altunoglu, Umut
ORCID: 0000-0002-3172-5368, Capri, Yline, Isidor, Bertrand, Lacombe, Didier
ORCID: 0000-0002-8956-2207, Corsini, Carole, Cormier-Daire, Valerie, Sanlaville, Damien
ORCID: 0000-0001-9939-2849, Giuliano, Fabienne, Le Quan Sang, Kim-Hanh, Kayirangwa, Honorine, Nuernberg, Peter, Meitinger, Thomas
ORCID: 0000-0002-8838-8403, Boduroglu, Koray
ORCID: 0000-0001-6260-1942, Zoll, Barbara, Lyonnet, Stanislas
ORCID: 0000-0001-5426-9417, Tzschach, Andreas
ORCID: 0000-0002-6840-965X, Verloes, Alain, Di Donato, Nataliya
ORCID: 0000-0001-9439-4677, Touitou, Isabelle, Netzer, Christian, Li, Yun, Genevieve, David, Yigit, Goekhan and Wollnik, Bernd
(2016).
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Hum. Mutat., 37 (9).
S. 847 - 865.
HOBOKEN:
WILEY.
ISSN 1098-1004
Borchert, Thomas, Huebscher, Daniela, Guessoum, Celina I., Lam, Tuan-Dinh D., Ghadri, Jelena R., Schellinger, Isabel N., Tiburcy, Malte, Liaw, Norman Y., Li, Yun, Haas, Jan, Sossalla, Samuel, Huber, Mia A., Cyganek, Lukas ORCID: 0000-0001-9120-1382, Jacobshagen, Claudius, Dressel, Ralf, Raaz, Uwe, Nikolaev, Viacheslav O., Guan, Kaomei
ORCID: 0000-0002-0753-3083, Thiele, Holger, Meder, Benjamin, Wollnik, Bernd, Zimmermann, Wolfram-Hubertus, Luescher, Thomas F., Hasenfuss, Gerd, Templin, Christian and Streckfuss-Boemeke, Katrin
(2017).
Catecholamine-Dependent beta-Adrenergic Signaling in a Pluripotent Stem Cell Model of Takotsubo Cardiomyopathy.
J. Am. Coll. Cardiol., 70 (8).
S. 975 - 992.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1558-3597
Bramswig, Nuria C., Luedecke, Hermann-Josef, Hamdan, Fadi F., Altmueller, Janine, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Elcioglu, Nursel H., Freyer, Catharine, Gerkes, Erica H., Demirkol, Yasemin Kendir, Knupp, Kelly G., Kuechler, Alma, Li, Yun, Lowenstein, Daniel H., Michaud, Jacques L., Park, Kristen, Stegmann, Alexander P. A., Veenstra-Knol, Hermine E., Wieland, Thomas, Wollnik, Bernd, Engels, Hartmut, Strom, Tim M., Kleefstra, Tjitske and Wieczorek, Dagmar
(2017).
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Hum. Genet., 136 (7).
S. 821 - 835.
NEW YORK:
SPRINGER.
ISSN 1432-1203
Ganapathi, Mythily ORCID: 0000-0003-2834-0843, Argyriou, Loukas, Martinez-Azorin, Francisco
ORCID: 0000-0001-6250-7745, Morlot, Susanne, Yigit, Gokhan, Lee, Teresa M., Auber, Bernd, von Gise, Alexander, Petrey, Donald S., Thiele, Holger
ORCID: 0000-0002-0169-998X, Cyganek, Lukas
ORCID: 0000-0001-9120-1382, Sabater-Molina, Maria
ORCID: 0000-0003-1352-1748, Ahimaz, Priyanka, Cabezas-Herrera, Juan, Sorli-Garcia, Moises, Zibat, Arne, Siegelin, Markus D., Burfeind, Peter, Buchovecky, Christie M., Hasenfuss, Gerd, Honig, Barry, Li, Yun, Iglesias, Alejandro D. and Wollnik, Bernd
(2020).
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
Hum. Genet., 139 (11).
S. 1443 - 1455.
NEW YORK:
SPRINGER.
ISSN 1432-1203
Hanses, Ulrich, Kleinsorge, Mandy, Roos, Lennart, Yigit, Goekhan, Li, Yun, Barbarics, Boris, El-Battrawy, Ibrahim, Lan, Huan, Tiburcy, Malte, Hindmarsh, Robin, Lenz, Christof, Salinas, Gabriela, Diecke, Sebastian, Mueller, Christian, Adham, Ibrahim, Altmueller, Janine, Nuernberg, Peter, Paul, Thomas, Zimmermann, Wolfram-Hubertus, Hasenfuss, Gerd, Wollnik, Bernd and Cyganek, Lukas ORCID: 0000-0001-9120-1382
(2020).
Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy.
Circulation, 142 (11).
S. 1059 - 1077.
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 1524-4539
Kalasova, Ilona ORCID: 0000-0001-8235-1805, Hanzlikova, Hana
ORCID: 0000-0001-7235-7269, Gupta, Neerja, Li, Yun, Altmueller, Janine, Reynolds, John J., Stewart, Grant S., Wollnik, Bernd, Yigit, Goekhan and Caldecott, Keith W.
(2019).
Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ.
Neurol.-Genet., 5 (2).
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 2376-7839
Moosa, Shahida ORCID: 0000-0002-4463-3067, Altmueller, Janine, Lyngbye, Troels, Christensen, Rikke, Li, Yun, Nuernberg, Peter, Yigit, Goekhan, Vogel, Ida
ORCID: 0000-0002-1125-0393 and Wollnik, Bernd
(2017).
Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome.
Mol. Genet. Genom. Med., 5 (5).
S. 580 - 585.
HOBOKEN:
WILEY.
ISSN 2324-9269
Moosa, Shahida ORCID: 0000-0002-4463-3067, Boehrer-Rabel, Helena, Altmueller, Janine, Beleggia, Filippo
ORCID: 0000-0003-0234-7094, Nuernberg, Peter, Li, Yun, Yigit, Goekhan and Wollnik, Bernd
(2017).
Smith-Kingsmore Syndrome: A Third Family with the MTOR Mutation C.5395G > A p.(Glu1799Lys) and Evidence for Paternal Gonadal Mosaicism.
Am. J. Med. Genet. A, 173 (1).
S. 264 - 268.
HOBOKEN:
WILEY.
ISSN 1552-4833
Moosa, Shahida ORCID: 0000-0002-4463-3067, Loeys, Bart, Altmueller, Janine, Mortier, Geert, Nuernberg, Peter, Li, Yun, Wollnik, Bernd and Vogel, Ida
ORCID: 0000-0002-1125-0393
(2017).
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
Clin. Genet., 92 (3).
S. 342 - 344.
HOBOKEN:
WILEY.
ISSN 1399-0004
Moosa, Shahida ORCID: 0000-0002-4463-3067, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sergio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, de Menezes, Hamilton Cabral, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Jr., Bezerra Carniero, Tulio Canella, Giunta, Cecilia
ORCID: 0000-0002-9313-8257, Rohrbach, Marianne
ORCID: 0000-0002-4013-6012, Janner, Marco, Semler, Oliver, Beleggia, Filippo
ORCID: 0000-0003-0234-7094, Li, Yun, Yigit, Goekhan, Reintjes, Nadine, Altmueller, Janine, Nuernberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd and Netzer, Christian
(2019).
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am. J. Hum. Genet., 105 (4).
S. 836 - 844.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Neuhofer, Christiane M. ORCID: 0000-0002-5037-4444, Funke, Rudolf, Wilken, Bernd, Knaus, Alexej, Altmueller, Janine, Nuernberg, Peter, Li, Yun, Wollnik, Bernd, Burfeind, Peter and Pauli, Silke
(2020).
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.
Mol. Syndromol., 11 (1).
S. 30 - 38.
BASEL:
KARGER.
ISSN 1661-8777
Paolacci, Stefano ORCID: 0000-0002-5551-7520, Li, Yun, Agolini, Emanuele
ORCID: 0000-0001-6543-6225, Bellacchio, Emanuele
ORCID: 0000-0002-2757-849X, Arboleda-Bustos, Carlos E., Carrero, Dido, Bertola, Debora, Al-Gazali, Lihadh, Alders, Mariel, Altmueller, Janine, Arboleda, Gonzalo, Beleggia, Filippo
ORCID: 0000-0003-0234-7094, Bruselles, Alessandro
ORCID: 0000-0002-1556-4998, Ciolfi, Andrea, Gillessen-Kaesbach, Gabriele, Krieg, Thomas, Mohammed, Shehla, Mueller, Christian, Noyelli, Antonio, Ortega, Jenny, Sandoval, Adrian, Velasco, Gloria, Yigit, Goekhan, Arboleda, Humberto, Lopez-Otin, Carlos
ORCID: 0000-0001-6964-1904, Wollnik, Bernd, Tartaglia, Marco
ORCID: 0000-0001-7736-9672 and Hennekam, Raoul C.
(2018).
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
J. Med. Genet., 55 (12).
S. 837 - 846.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244
Pauli, Silke, Altmueller, Janine, Schroeder, Simone, Ohlenbusch, Andreas, Dreha-Kulaczewski, Steffi, Bergmann, Carsten, Nuernberg, Peter, Thiele, Holger, Li, Yun, Wollnik, Bernd and Brockmann, Knut (2019). Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J. Med. Genet., 56 (4). S. 261 - 265. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244
Reynolds, John J., Bicknell, Louise S., Carroll, Paula, Higgs, Martin R., Shaheen, Ranad, Murray, Jennie E., Papadopoulos, Dimitrios K., Leitch, Andrea, Murina, Olga ORCID: 0000-0003-1650-2892, Tarnauskaite, Zygimante, Wessel, Sarah R., Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex
ORCID: 0000-0002-4952-8573, Mottram, Rachel M. A., Logan, Clare V., Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C., Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S., Amar, Ariella, Prescott, Natalie J., Bober, Michael B., Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem, Al-Aama, Jumana Yousuf, Altmueller, Janine, Al Balwi, Mohammed
ORCID: 0000-0003-2910-0390, Brady, Angela F., Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D., Hobson, Emma, Nurnberg, Peter, Percin, E. Ferda, Peron, Angela
ORCID: 0000-0002-1769-6548, Spaccini, Luigina, Quigley, Alan J., Thakur, Seema, Wise, Carol A., Yoon, Grace, Alnemer, Maha, Tomancak, Pavel
ORCID: 0000-0002-2222-9370, Yigit, Goekhan, Taylor, A. Malcolm R., Reijns, Martin A. M., Simpson, Michael A., Cortez, David, Alkuraya, Fowzan S., Mathew, Christopher G., Jackson, Andrew P. and Stewart, Grant S.
(2017).
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Nature Genet., 49 (4).
S. 537 - 553.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
Schroeder, Simone, Li, Yun, Yigit, Gokhan, Altmueller, Janine, Bader, Ingrid, Bevot, Andrea, Biskup, Saskia, Dreha-Kulaczewski, Steffi, Korenke, G. Christoph, Kottke, Raimund, Mayr, Johannes A., Preisel, Martin, Toelle, Sandra P., Wente-Schulz, Sarah, Wortmann, Saskia B., Hahn, Heidi, Boltshauser, Eugen, Uhmann, Anja, Wollnik, Bernd and Brockmann, Knut . Heterozygous truncating variants inSUFUcause congenital ocular motor apraxia. Genet. Med.. LONDON: SPRINGERNATURE. ISSN 1530-0366
Vasileiou, Georgia ORCID: 0000-0002-1993-1134, Vergarajauregui, Silvia
ORCID: 0000-0002-9247-6123, Endele, Sabine, Popp, Bernt
ORCID: 0000-0002-3679-1081, Buettner, Christian, Ekici, Arif B., Gerard, Marion, Bramswig, Nuria C., Albrecht, Beate, Clayton-Smith, Jill, Morton, Jenny, Tomkins, Susan, Low, Karen, Weber, Astrid, Wenzel, Maren, Altmueller, Janine, Li, Yun, Wollnik, Bernd, Hoganson, George, Plona, Maria-Renee, Cho, Megan T., Thiel, Christian T., Luedecke, Hermann-Josef, Strom, Tim M., Calpena, Eduardo
ORCID: 0000-0001-6399-6528, Wilkie, Andrew O. M., Wieczorek, Dagmar, Engel, Felix B.
ORCID: 0000-0003-2605-3429 and Reis, Andre
ORCID: 0000-0002-6301-6363
(2018).
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Am. J. Hum. Genet., 102 (3).
S. 468 - 480.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605