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Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
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Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

Wagner, Matias ; Skorobogatko, Yuliya ; Pode-Shakked, Ben ; Powell, Cynthia M. ; Alhaddad, Bader ; Seibt, Annette ; Barel, Ortal ; Heimer, Gali ; Hoffmann, Chen ; Demmer, Laurie A. ; Perilla-Young, Yezmin ; Remke, Marc ; Wieczorek, Dagmar ; Navaratnarajah, Tharsini ; Lichtner, Peter ; Klee, Dirk ; Shamseldin, Hanan E. ; Al Mutairi, Fuad ; Mayatepek, Ertan ; Strom, Tim ; Meitinger, Thomas ; Alkuraya, Fowzan S. ; Anikster, Yair ; Saltiel, Alan R. ; Distelmaier, Felix

American journal of human genetics, 2020-02, Vol.106 (2), p.246-255 [Periódico revisado por pares]

United States: Elsevier Inc

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2
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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3
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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4
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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5
Identification of cis-suppression of human disease mutations by comparative genomics
Identification of cis-suppression of human disease mutations by comparative genomics
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Identification of cis-suppression of human disease mutations by comparative genomics

Jordan, Daniel M ; Frangakis, Stephan G ; Golzio, Christelle ; Cassa, Christopher A ; Kurtzberg, Joanne ; Davis, Erica E ; Sunyaev, Shamil R ; Katsanis, Nicholas

Nature (London), 2015-08, Vol.524 (7564), p.225-229 [Periódico revisado por pares]

England: Nature Publishing Group

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6
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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7
Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions
Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions
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Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions

Katsanis, Sara Huston ; Minear, Mollie A ; Sadeghpour, Azita ; Cope, Heidi ; Perilla, Yezmin ; Cook-Deegan, Robert ; Katsanis, Nicholas ; Davis, Erica E ; Angrist, Misha

Journal of participatory medicine, 2018-01, Vol.10 (1), p.e2-e2 [Periódico revisado por pares]

Canada: JMIR Publications

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8
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

Helbig, Katherine L ; Lauerer, Robert J ; Bahr, Jacqueline C ; Souza, Ivana A ; Myers, Candace T ; Uysal, Betül ; Schwarz, Niklas ; Gandini, Maria A ; Huang, Sun ; Keren, Boris ; Mignot, Cyril ; Afenjar, Alexandra ; de Villemeur, Thierry Billette ; Héron, Delphine ; Nava, Caroline ; Valence, Stéphanie ; Buratti, Julien ; Fagerberg, Christina R ; Soerensen, Kristina P ; Kibaek, Maria ; Kamsteeg, Erik-Jan ; Koolen, David A ; Gunning, Boudewijn ; Schelhaas, H Jurgen ; Kruer, Michael C ; Fox, Jordana ; Bakhtiari, Somayeh ; Jarrar, Randa ; Padilla-Lopez, Sergio ; Lindstrom, Kristin ; Jin, Sheng Chih ; Zeng, Xue ; Bilguvar, Kaya ; Papavasileiou, Antigone ; Xing, Qinghe ; Zhu, Changlian ; Boysen, Katja ; Vairo, Filippo ; Lanpher, Brendan C ; Klee, Eric W ; Tillema, Jan-Mendelt ; Payne, Eric T ; Cousin, Margot A ; Kruisselbrink, Teresa M ; Wick, Myra J ; Baker, Joshua ; Haan, Eric ; Smith, Nicholas ; Sadeghpour, Azita ; Davis, Erica E ; Katsanis, Nicholas ; Genomics, Task Force for Neonatal ; Allori, Alexander ; Angrist, Misha ; Ashley, Patricia ; Bidegain, Margarita ; Boyd, Brita ; Chambers, Eileen ; Cope, Heidi ; Cotten, C Michael ; Curington, Theresa ; Ellestad, Sarah ; Fisher, Kimberley ; French, Amanda ; Gallentine, William ; Goldberg, Ronald ; Hill, Kevin ; Kansagra, Sujay ; Katsanis, Sara ; Kurtzberg, Joanne ; Marcus, Jeffrey ; McDonald, Marie ; Mikati, Mohammed ; Miller, Stephen ; Murtha, Amy ; Perilla, Yezmin ; Pizoli, Carolyn ; Purves, Todd ; Ross, Sherry ; Smith, Edward ; Wiener, John ; Corbett, Mark A ; MacLennan, Alastair H ; Gecz, Jozef ; Biskup, Saskia ; Goldmann, Eva ; Rodan, Lance H ; Kichula, Elizabeth ; Segal, Eric ; Jackson, Kelly E ; Asamoah, Alexander ; Dimmock, David ; McCarrier, Julie ; Botto, Lorenzo D ; Filloux, Francis ; Tvrdik, Tatiana ; Cascino, Gregory D

American Journal of Human Genetics, 2018-11, Vol.103 (5), p.666-678

eScholarship, University of California

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9
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Material Type:
Artigo 		Adicionar ao Meu Espaço

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

Wagner, Matias ; Skorobogatko, Yuliya ; Pode-Shakked, Ben ; Powell, Cynthia ; Alhaddad, Bader ; Seibt, Annette ; Barel, Ortal ; Heimer, Gali ; Hoffmann, Chen ; Demmer, Laurie ; Perilla-Young, Yezmin ; Remke, Marc ; Wieczorek, Dagmar ; Navaratnarajah, Tharsini ; Lichtner, Peter ; Klee, Dirk ; Shamseldin, Hanan ; Al Mutairi, Fuad ; Mayatepek, Ertan ; Strom, Tim ; Meitinger, Thomas ; Alkuraya, Fowzan ; Anikster, Yair ; Distelmaier, Felix ; Saltiel, Alan

American Journal of Human Genetics, 2020-02, Vol.106 (2)

eScholarship, University of California

Sem texto completo

Citações Citado por
10
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Material Type:
Artigo 		Adicionar ao Meu Espaço

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

Wagner, Matias ; Skorobogatko, Yuliya ; Pode-Shakked, Ben ; Powell, Cynthia M ; Alhaddad, Bader ; Seibt, Annette ; Barel, Ortal ; Heimer, Gali ; Hoffmann, Chen ; Demmer, Laurie A ; Perilla-Young, Yezmin ; Remke, Marc ; Wieczorek, Dagmar ; Navaratnarajah, Tharsini ; Lichtner, Peter ; Klee, Dirk ; Shamseldin, Hanan E ; Al Mutairi, Fuad ; Mayatepek, Ertan ; Strom, Tim ; Meitinger, Thomas ; Alkuraya, Fowzan S ; Anikster, Yair ; Saltiel, Alan R ; Distelmaier, Felix

American Journal of Human Genetics, 2020-02, Vol.106 (2), p.246-255

eScholarship, University of California

Sem texto completo

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