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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Helbig, Katherine L. ; Lauerer, Robert J. ; Bahr, Jacqueline C. ; Souza, Ivana A. ; Uysal, Betül ; Gandini, Maria A. ; Huang, Sun ; Keren, Boris ; Mignot, Cyril ; Billette de Villemeur, Thierry ; Nava, Caroline ; Valence, Stéphanie ; Buratti, Julien ; Fagerberg, Christina R. ; Soerensen, Kristina P. ; Kamsteeg, Erik-Jan ; Koolen, David A. ; Gunning, Boudewijn ; Schelhaas, H. Jurgen ; Fox, Jordana ; Bakhtiari, Somayeh ; Jarrar, Randa ; Lindstrom, Kristin ; Jin, Sheng Chih ; Zeng, Xue ; Bilguvar, Kaya ; Papavasileiou, Antigone ; Xing, Qinghe ; Zhu, Changlian ; Boysen, Katja ; Vairo, Filippo ; Klee, Eric W. ; Tillema, Jan-Mendelt ; Payne, Eric T. ; Cousin, Margot A. ; Kruisselbrink, Teresa M. ; Wick, Myra J. ; Baker, Joshua ; Smith, Nicholas ; Angrist, Misha ; Ashley, Patricia ; Bidegain, Margarita ; Chambers, Eileen ; Cope, Heidi ; Cotten, C. Michael ; Curington, Theresa ; Davis, Erica E. ; Fisher, Kimberley ; French, Amanda ; Gallentine, William ; Hill, Kevin ; Kansagra, Sujay ; Katsanis, Sara ; Kurtzberg, Joanne ; Marcus, Jeffrey ; McDonald, Marie ; Mikati, Mohammed ; Miller, Stephen ; Murtha, Amy ; Perilla, Yezmin ; Pizoli, Carolyn ; Ross, Sherry ; Sadeghpour, Azita ; Smith, Edward ; Wiener, John ; Corbett, Mark A. ; Goldmann, Eva ; Kichula, Elizabeth ; Segal, Eric ; Jackson, Kelly E. ; Asamoah, Alexander ; McCarrier, Julie ; Botto, Lorenzo D. ; Tvrdik, Tatiana ; Cascino, Gregory D. ; Klingerman, Sherry ; Neumann, Catherine ; Nolan, Melinda A. ; Snell, Russell G. ; Lehnert, Klaus ; Sadleir, Lynette G. ; Kvarnung, Malin ; Guerrini, Renzo ; Friez, Michael J. ; Lyons, Michael J. ; Leonhard, Jennifer ; Kringlen, Gabriel ; El Achkar, Christelle M. ; Smith, Lacey A. ; Carss, Keren J. ; Rankin, Julia ; Zeman, Adam ; Blyth, Moira ; Kerr, Bronwyn ; Ruiz, Karla ; Urquhart, Jill ; Banka, Siddharth ; Scheffer, Ingrid E. ; Zamponi, Gerald W. ; Mefford, Heather C.

American journal of human genetics, 2018-11, Vol.103 (5), p.666-678 [Periódico revisado por pares]

United States: Elsevier Inc

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2
A Genocentric Approach to Discovery of Mendelian Disorders
A Genocentric Approach to Discovery of Mendelian Disorders
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A Genocentric Approach to Discovery of Mendelian Disorders

Hansen, Adam W. ; Murugan, Mullai ; Li, He ; Khayat, Michael M. ; Wang, Liwen ; Rosenfeld, Jill ; Andrews, B. Kim ; Jhangiani, Shalini N. ; Coban Akdemir, Zeynep H. ; Sedlazeck, Fritz J. ; Ashley-Koch, Allison E. ; Liu, Pengfei ; Muzny, Donna M. ; Allori, Alexander ; Angrist, Misha ; Ashley, Patricia ; Bidegain, Margarita ; Boyd, Brita ; Chambers, Eileen ; Cope, Heidi ; Cotten, C. Michael ; Curington, Theresa ; Davis, Erica E. ; Ellestad, Sarah ; Fisher, Kimberley ; French, Amanda ; Gallentine, William ; Goldberg, Ronald ; Hill, Kevin ; Kansagra, Sujay ; Katsanis, Nicholas ; Katsanis, Sara ; Kurtzberg, Joanne ; Marcus, Jeffrey ; McDonald, Marie ; Mikati, Mohammed ; Miller, Stephen ; Murtha, Amy ; Perilla, Yezmin ; Pizoli, Carolyn ; Purves, Todd ; Ross, Sherry ; Sadeghpour, Azita ; Smith, Edward ; Wiener, John ; Davis, Erica E. ; Katsanis, Nicholas ; Sabo, Aniko ; Posey, Jennifer E. ; Yang, Yaping ; Wangler, Michael F. ; Eng, Christine M. ; Sutton, V. Reid ; Lupski, James R. ; Boerwinkle, Eric ; Gibbs, Richard A.

American journal of human genetics, 2019-11, Vol.105 (5), p.974-986 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies
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Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

Khan, Tahir N. ; Khan, Kamal ; Sadeghpour, Azita ; Reynolds, Hannah ; Perilla, Yezmin ; McDonald, Marie T. ; Gallentine, William B. ; Baig, Shahid M. ; Allori, Alexander ; Angrist, Misha ; Ashley, Patricia ; Bidegain, Margarita ; Boyd, Brita ; Chambers, Eileen ; Cope, Heidi ; Cotten, C. Michael ; Curington, Theresa ; Davis, Erica E. ; Ellestad, Sarah ; Fisher, Kimberley ; French, Amanda ; Gallentine, William ; Goldberg, Ronald ; Hill, Kevin ; Kansagra, Sujay ; Katsanis, Nicholas ; Katsanis, Sara ; Kurtzberg, Joanne ; Marcus, Jeffrey ; McDonald, Marie ; Mikati, Mohammed ; Miller, Stephen ; Murtha, Amy ; Perilla, Yezmin ; Pizoli, Carolyn ; Purves, Todd ; Ross, Sherry ; Sadeghpour, Azita ; Smith, Edward ; Wiener, John ; Davis, Erica E. ; Katsanis, Nicholas

American journal of human genetics, 2019-01, Vol.104 (1), p.94-111 [Periódico revisado por pares]

United States: Elsevier Inc

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4
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Material Type:
Artigo 		Adicionar ao Meu Espaço

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Lauerer, Robert J. ; Bahr, Jacqueline C. ; Souza, Ivana A. ; Myers, Candace T. ; Schwarz, Niklas ; Gandini, Maria A. ; Keren, Boris ; Mignot, Cyril ; Afenjar, Alexandra ; Billette de Villemeur, Thierry ; Héron, Delphine ; Nava, Caroline ; Buratti, Julien ; Fagerberg, Christina R. ; Soerensen, Kristina P. ; Kibaek, Maria ; Kamsteeg, Erik-Jan ; Schelhaas, H. Jurgen ; Fox, Jordana ; Bakhtiari, Somayeh ; Jarrar, Randa ; Padilla-Lopez, Sergio ; Lindstrom, Kristin ; Bilguvar, Kaya ; Papavasileiou, Antigone ; Xing, Qinghe ; Boysen, Katja ; Vairo, Filippo ; Lanpher, Brendan C. ; Klee, Eric W. ; Tillema, Jan-Mendelt ; Cousin, Margot A. ; Baker, Joshua ; Haan, Eric ; Smith, Nicholas ; Davis, Erica E. ; Katsanis, Nicholas ; Angrist, Misha ; Ashley, Patricia ; Bidegain, Margarita ; Chambers, Eileen ; Cope, Heidi ; Cotten, C. Michael ; Curington, Theresa ; Fisher, Kimberley ; French, Amanda ; Gallentine, William ; Hill, Kevin ; Kansagra, Sujay ; Katsanis, Sara ; Kurtzberg, Joanne ; Marcus, Jeffrey ; McDonald, Marie ; Mikati, Mohammed ; Miller, Stephen ; Murtha, Amy ; Perilla, Yezmin ; Pizoli, Carolyn ; Ross, Sherry ; Smith, Edward ; Wiener, John ; Corbett, Mark A. ; MacLennan, Alastair H. ; Biskup, Saskia ; Rodan, Lance H. ; Segal, Eric ; Dimmock, David ; McCarrier, Julie ; Botto, Lorenzo D. ; Filloux, Francis ; Klingerman, Sherry ; Neumann, Catherine ; Wang, Raymond ; Jacobsen, Jessie C. ; Snell, Russell G. ; Lehnert, Klaus ; Anderlid, Britt-Marie ; Kvarnung, Malin ; Guerrini, Renzo ; Lyons, Michael J. ; Leonhard, Jennifer ; Kringlen, Gabriel ; Smith, Lacey A. ; Rotenberg, Alexander ; Poduri, Annapurna ; Sanchis-Juan, Alba ; Carss, Keren J. ; Rankin, Julia ; Zeman, Adam ; Raymond, F. Lucy ; Blyth, Moira ; Kerr, Bronwyn ; Urquhart, Jill ; Hughes, Imelda ; Banka, Siddharth ; Hedrich, Ulrike B.S. ; Scheffer, Ingrid E. ; Zamponi, Gerald W. ; Lerche, Holger ; Mefford, Heather C.

American journal of human genetics, 2019-03, Vol.104 (3), p.562-562 [Periódico revisado por pares]

United States: Elsevier Inc

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