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Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
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Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

Morimoto, Marie ; Waller-Evans, Helen ; Ammous, Zineb ; Song, Xiaofei ; Strauss, Kevin A. ; Pehlivan, Davut ; Gonzaga-Jauregui, Claudia ; Puffenberger, Erik G. ; Holst, Charles R. ; Karaca, Ender ; Brigatti, Karlla W. ; Maguire, Emily ; Coban-Akdemir, Zeynep H. ; Amagata, Akiko ; Lau, C. Christopher ; Chepa-Lotrea, Xenia ; Macnamara, Ellen ; Tos, Tulay ; Isikay, Sedat ; Nehrebecky, Michele ; Overton, John D. ; Klein, Matthew ; Markello, Thomas C. ; Posey, Jennifer E. ; Adams, David R. ; Lloyd-Evans, Emyr ; Lupski, James R. ; Gahl, William A. ; Malicdan, May Christine V.

American journal of human genetics, 2018-11, Vol.103 (5), p.794-807 [Periódico revisado por pares]

United States: Elsevier Inc

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12
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Karolak, Justyna A. ; Vincent, Marie ; Deutsch, Gail ; Gambin, Tomasz ; Cogné, Benjamin ; Pichon, Olivier ; Vetrini, Francesco ; Mefford, Heather C. ; Dines, Jennifer N. ; Golden-Grant, Katie ; Dipple, Katrina ; Freed, Amanda S. ; Leppig, Kathleen A. ; Dishop, Megan ; Mowat, David ; Bennetts, Bruce ; Gifford, Andrew J. ; Weber, Martin A. ; Lee, Anna F. ; Boerkoel, Cornelius F. ; Bartell, Tina M. ; Ward-Melver, Catherine ; Besnard, Thomas ; Petit, Florence ; Bache, Iben ; Tümer, Zeynep ; Denis-Musquer, Marie ; Joubert, Madeleine ; Martinovic, Jelena ; Bénéteau, Claire ; Molin, Arnaud ; Carles, Dominique ; André, Gwenaelle ; Bieth, Eric ; Chassaing, Nicolas ; Devisme, Louise ; Chalabreysse, Lara ; Pasquier, Laurent ; Secq, Véronique ; Don, Massimiliano ; Orsaria, Maria ; Missirian, Chantal ; Mortreux, Jérémie ; Sanlaville, Damien ; Pons, Linda ; Küry, Sébastien ; Bézieau, Stéphane ; Liet, Jean-Michel ; Joram, Nicolas ; Bihouée, Tiphaine ; Scott, Daryl A. ; Brown, Chester W. ; Scaglia, Fernando ; Tsai, Anne Chun-Hui ; Grange, Dorothy K. ; Phillips, John A. ; Pfotenhauer, Jean P. ; Jhangiani, Shalini N. ; Gonzaga-Jauregui, Claudia G. ; Chung, Wendy K. ; Schauer, Galen M. ; Lipson, Mark H. ; Mercer, Catherine L. ; van Haeringen, Arie ; Liu, Qian ; Popek, Edwina ; Coban Akdemir, Zeynep H. ; Lupski, James R. ; Szafranski, Przemyslaw ; Isidor, Bertrand ; Le Caignec, Cedric ; Stankiewicz, Paweł

American journal of human genetics, 2019-02, Vol.104 (2), p.213-228 [Periódico revisado por pares]

United States: Elsevier Inc

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13
American Journal of Human Genetics
American Journal of Human Genetics
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American Journal of Human Genetics

Zhang, Feng ; Seeman, Pavel ; Liu, Pengfei ; Weterman, Marian A J ; Gonzaga-Jauregui, Claudia ; Towne, Charles F ; Batish, Sat Dev ; De Vriendt, Els ; De Jonghe, Peter ; Rautenstrauss, Bernd ; Krause, Klaus-Henning ; Khajavi, Mehrdad ; Posadka, Jan ; Vandenberghe, Antoon ; Palau, Francesc ; Van Maldergem, Lionel ; Baas, Frank ; Timmerman, Vincent ; Lupski, James R

American journal of human genetics, 2010, p.892-903 [Periódico revisado por pares]

University of Chicago Press

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14
Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1 A or HNPP: Rare CNVs as a Cause for Missing Heritability
Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1 A or HNPP: Rare CNVs as a Cause for Missing Heritability
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Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1 A or HNPP: Rare CNVs as a Cause for Missing Heritability

FENG ZHANG ; SEEMAN, Pavel ; KRAUSE, Klaus-Henning ; KHAJAVI, Mehrdad ; POSADKA, Jan ; VANDENBERGHE, Antoon ; PALAU, Francesc ; VAN MALDERGEM, Lionel ; BAAS, Frank ; TIMMERMAN, Vincent ; LUPSKI, James R ; PENGFEI LIU ; WETERMAN, Marian A. J ; GONZAGA-JAUREGUI, Claudia ; TOWNE, Charles F ; DEV BATISH, Sat ; DE VRIENDT, Els ; DE JONGHE, Peter ; RAUTENSTRAUSS, Bernd

American journal of human genetics, 2010, Vol.86 (6), p.892-903 [Periódico revisado por pares]

Cambridge, MA: Cell Press

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