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1.

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

Straub, Jonas; Konrad, Enrico D H; Grüner, Johanna; Toutain, Annick; Bok, Levinus A; Cho, Megan T; Crawford, Heather P; Dubbs, Holly; Douglas, Ganka; Jobling, Rebekah; Johnson, Diana; Krock, Bryan; Mikati, Mohamad A; Nesbitt, Addie; Nicolai, Joost; Phillips, Meredith; Poduri, Annapurna; Ortiz-Gonzalez, Xilma R; Powis, Zöe; Santani, Avni; Smith, Lacey; Stegmann, Alexander P A; Stumpel, Constance; Vreeburg, Maaike; Fliedner, Anna; Gregor, Anne; Sticht, Heinrich; Zweier, Christiane.

Am J Hum Genet; 102(1): 44-57, 2018 01 04.

Artigo em Inglês | MEDLINE | ID: mdl-29276004

2.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Gregor, Anne; Sadleir, Lynette G; Asadollahi, Reza; Azzarello-Burri, Silvia; Battaglia, Agatino; Ousager, Lilian Bomme; Boonsawat, Paranchai; Bruel, Ange-Line; Buchert, Rebecca; Calpena, Eduardo; Cogné, Benjamin; Dallapiccola, Bruno; Distelmaier, Felix; Elmslie, Frances; Faivre, Laurence; Haack, Tobias B; Harrison, Victoria; Henderson, Alex; Hunt, David; Isidor, Bertrand; Joset, Pascal; Kumada, Satoko; Lachmeijer, Augusta M A; Lees, Melissa; Lynch, Sally Ann; Martinez, Francisco; Matsumoto, Naomichi; McDougall, Carey; Mefford, Heather C; Miyake, Noriko; Myers, Candace T; Moutton, Sébastien; Nesbitt, Addie; Novelli, Antonio; Orellana, Carmen; Rauch, Anita; Rosello, Monica; Saida, Ken; Santani, Avni B; Sarkar, Ajoy; Scheffer, Ingrid E; Shinawi, Marwan; Steindl, Katharina; Symonds, Joseph D; Zackai, Elaine H; Reis, André; Sticht, Heinrich; Zweier, Christiane.

Am J Hum Genet; 103(2): 305-316, 2018 Aug 02.

Artigo em Inglês | MEDLINE | ID: mdl-30057029

3.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Schanze, Ina; Bunt, Jens; Lim, Jonathan W C; Schanze, Denny; Dean, Ryan J; Alders, Marielle; Blanchet, Patricia; Attié-Bitach, Tania; Berland, Siren; Boogert, Steven; Boppudi, Sangamitra; Bridges, Caitlin J; Cho, Megan T; Dobyns, William B; Donnai, Dian; Douglas, Jessica; Earl, Dawn L; Edwards, Timothy J; Faivre, Laurence; Fregeau, Brieana; Genevieve, David; Gérard, Marion; Gatinois, Vincent; Holder-Espinasse, Muriel; Huth, Samuel F; Izumi, Kosuke; Kerr, Bronwyn; Lacaze, Elodie; Lakeman, Phillis; Mahida, Sonal; Mirzaa, Ghayda M; Morgan, Sian M; Nowak, Catherine; Peeters, Hilde; Petit, Florence; Pilz, Daniela T; Puechberty, Jacques; Reinstein, Eyal; Rivière, Jean-Baptiste; Santani, Avni B; Schneider, Anouck; Sherr, Elliott H; Smith-Hicks, Constance; Wieland, Ilse; Zackai, Elaine; Zhao, Xiaonan; Gronostajski, Richard M; Zenker, Martin; Richards, Linda J.

Am J Hum Genet; 103(5): 752-768, 2018 Nov 01.

Artigo em Inglês | MEDLINE | ID: mdl-30388402

4.

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

Strande, Natasha T; Riggs, Erin Rooney; Buchanan, Adam H; Ceyhan-Birsoy, Ozge; DiStefano, Marina; Dwight, Selina S; Goldstein, Jenny; Ghosh, Rajarshi; Seifert, Bryce A; Sneddon, Tam P; Wright, Matt W; Milko, Laura V; Cherry, J Michael; Giovanni, Monica A; Murray, Michael F; O'Daniel, Julianne M; Ramos, Erin M; Santani, Avni B; Scott, Alan F; Plon, Sharon E; Rehm, Heidi L; Martin, Christa L; Berg, Jonathan S.

Am J Hum Genet; 100(6): 895-906, 2017 Jun 01.

Artigo em Inglês | MEDLINE | ID: mdl-28552198

5.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Küry, Sébastien; van Woerden, Geeske M; Besnard, Thomas; Proietti Onori, Martina; Latypova, Xénia; Towne, Meghan C; Cho, Megan T; Prescott, Trine E; Ploeg, Melissa A; Sanders, Stephan; Stessman, Holly A F; Pujol, Aurora; Distel, Ben; Robak, Laurie A; Bernstein, Jonathan A; Denommé-Pichon, Anne-Sophie; Lesca, Gaëtan; Sellars, Elizabeth A; Berg, Jonathan; Carré, Wilfrid; Busk, Øyvind Løvold; van Bon, Bregje W M; Waugh, Jeff L; Deardorff, Matthew; Hoganson, George E; Bosanko, Katherine B; Johnson, Diana S; Dabir, Tabib; Holla, Øystein Lunde; Sarkar, Ajoy; Tveten, Kristian; de Bellescize, Julitta; Braathen, Geir J; Terhal, Paulien A; Grange, Dorothy K; van Haeringen, Arie; Lam, Christina; Mirzaa, Ghayda; Burton, Jennifer; Bhoj, Elizabeth J; Douglas, Jessica; Santani, Avni B; Nesbitt, Addie I; Helbig, Katherine L; Andrews, Marisa V; Begtrup, Amber; Tang, Sha; van Gassen, Koen L I; Juusola, Jane; Foss, Kimberly.

Am J Hum Genet; 101(5): 768-788, 2017 Nov 02.

Artigo em Inglês | MEDLINE | ID: mdl-29100089

6.

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

Skraban, Cara M; Wells, Constance F; Markose, Preetha; Cho, Megan T; Nesbitt, Addie I; Au, P Y Billie; Begtrup, Amber; Bernat, John A; Bird, Lynne M; Cao, Kajia; de Brouwer, Arjan P M; Denenberg, Elizabeth H; Douglas, Ganka; Gibson, Kristin M; Grand, Katheryn; Goldenberg, Alice; Innes, A Micheil; Juusola, Jane; Kempers, Marlies; Kinning, Esther; Markie, David M; Owens, Martina M; Payne, Katelyn; Person, Richard; Pfundt, Rolph; Stocco, Amber; Turner, Claire L S; Verbeek, Nienke E; Walsh, Laurence E; Warner, Taylor C; Wheeler, Patricia G; Wieczorek, Dagmar; Wilkens, Alisha B; Zonneveld-Huijssoon, Evelien; Kleefstra, Tjitske; Robertson, Stephen P; Santani, Avni; van Gassen, Koen L I; Deardorff, Matthew A.

Am J Hum Genet; 101(1): 139-148, 2017 Jul 06.

Artigo em Inglês | MEDLINE | ID: mdl-28686853

7.

Clinical utility of exome sequencing in infantile heart failure.

Ritter, Alyssa; Bedoukian, Emma; Berger, Justin H; Copenheaver, Deborah; Gray, Christopher; Krantz, Ian; Izumi, Kosuke; Juusola, Jane; Leonard, Jacqueline; Lin, Kimberly; Medne, Livija; Santani, Avni; Skraban, Cara; Yang, Sandra; Ahrens-Nicklas, Rebecca C.

Genet Med; 2019 Sep 17.

Artigo em Inglês | MEDLINE | ID: mdl-31527676

8.

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Weiss, Karin; Lazar, Hayley P; Kurolap, Alina; Martinez, Ariel F; Paperna, Tamar; Cohen, Lior; Smeland, Marie F; Wallen, Sandra; Solveig, Heide; Keren, Boris; Terhal, Pauline; Irving, Melita; Takaku, Motoki; Roberts, John D; Petrovich, Robert M; Schrier Vergano, Samantha A; Kenney, Amy; Hove, Hanne; DeChene, Elizabeth; Quinonez, Shane C; Colin, Estelle; Ziegler, Alban; Rumple, Melissa; Jain, Mahim; Monteil, Danielle; Roeder, Elizabeth R; Nugent, Kimberly; van Haeringen, Arie; Gambello, Michael; Santani, Avni; Medne, Livija; Krock, Bryan; Skraban, Cara M; Zackai, Elaine H; Dubbs, Holly A; Smol, Thomas; Ghoumid, Jamal; Parker, Michael J; Wright, Michael; Turnpenny, Peter; Clayton-Smith, Jill; Metcalfe, Kay; Kurumizaka, Hitoshi; Gelb, Bruce D; Baris Feldman, Hagit; Campeau, Philippe M; Muenke, Maximilian; Wade, Paul A; Lachlan, Katherine.

Genet Med; 2019 Aug 07.

Artigo em Inglês | MEDLINE | ID: mdl-31388190

9.

Muenke syndrome: Medical and surgical comorbidities and long-term management.

Murali, Chaya N; McDonald-McGinn, Donna M; Wenger, Tara Lynn; McDougall, Carey; Stroup, Bridget M; Sheppard, Sarah E; Taylor, Jesse; Bartlett, Scott P; Bhoj, Elizabeth J; Zackai, Elaine H; Santani, Avni.

Am J Med Genet A; 179(8): 1442-1450, 2019 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-31111620

10.

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

Harrison, Steven M; Dolinksy, Jill S; Chen, Wenjie; Collins, Christin D; Das, Soma; Deignan, Joshua L; Garber, Kathryn B; Garcia, John; Jarinova, Olga; Knight Johnson, Amy E; Koskenvuo, Juha W; Lee, Hane; Mao, Rong; Mar-Heyming, Rebecca; McFaddin, Andrew S; Moyer, Krista; Nagan, Narasimhan; Rentas, Stefan; Santani, Avni B; Seppälä, Eija H; Shirts, Brian H; Tidwell, Timothy; Topper, Scott; Vincent, Lisa M; Vinette, Kathy; Rehm, Heidi L.

Hum Mutat; 39(11): 1641-1649, 2018 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-30311378

11.

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Tham, Emma; Lindstrand, Anna; Santani, Avni; Malmgren, Helena; Nesbitt, Addie; Dubbs, Holly A; Zackai, Elaine H; Parker, Michael J; Millan, Francisca; Rosenbaum, Kenneth; Wilson, Golder N; Nordgren, Ann.

Am J Hum Genet; 96(3): 507-13, 2015 Mar 05.

Artigo em Inglês | MEDLINE | ID: mdl-25728777

12.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola, Laura M; Dorschner, Michael O; Robertson, Peggy D; Salama, Joseph S; Hart, Ragan; Shirts, Brian H; Murray, Mitzi L; Tokita, Mari J; Gallego, Carlos J; Kim, Daniel Seung; Bennett, James T; Crosslin, David R; Ranchalis, Jane; Jones, Kelly L; Rosenthal, Elisabeth A; Jarvik, Ella R; Itsara, Andy; Turner, Emily H; Herman, Daniel S; Schleit, Jennifer; Burt, Amber; Jamal, Seema M; Abrudan, Jenica L; Johnson, Andrew D; Conlin, Laura K; Dulik, Matthew C; Santani, Avni; Metterville, Danielle R; Kelly, Melissa; Foreman, Ann Katherine M; Lee, Kristy; Taylor, Kent D; Guo, Xiuqing; Crooks, Kristy; Kiedrowski, Lesli A; Raffel, Leslie J; Gordon, Ora; Machini, Kalotina; Desnick, Robert J; Biesecker, Leslie G; Lubitz, Steven A; Mulchandani, Surabhi; Cooper, Greg M; Joffe, Steven; Richards, C Sue; Yang, Yaoping; Rotter, Jerome I; Rich, Stephen S; O'Donnell, Christopher J; Berg, Jonathan S.

Genome Res; 25(3): 305-15, 2015 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-25637381

13.

AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.

Guan, Qiaoning; Balciuniene, Jorune; Cao, Kajia; Fan, Zhiqian; Biswas, Sawona; Wilkens, Alisha; Gallo, Daniel J; Bedoukian, Emma; Tarpinian, Jennifer; Jayaraman, Pushkala; Sarmady, Mahdi; Dulik, Matthew; Santani, Avni; Spinner, Nancy; Abou Tayoun, Ahmad N; Krantz, Ian D; Conlin, Laura K; Luo, Minjie.

Genet Med; 2018 Mar 29.

Artigo em Inglês | MEDLINE | ID: mdl-29595809

14.

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

Gibson, Kristin McDonald; Nesbitt, Addie; Cao, Kajia; Yu, Zhenming; Denenberg, Elizabeth; DeChene, Elizabeth; Guan, Qiaoning; Bhoj, Elizabeth; Zhou, Xiangdong; Zhang, Bo; Wu, Chao; Dubbs, Holly; Wilkens, Alisha; Medne, Livija; Bedoukian, Emma; White, Peter S; Pennington, Jeffrey; Lou, Minjie; Conlin, Laura; Monos, Dimitri; Sarmady, Mahdi; Marsh, Eric; Zackai, Elaine; Spinner, Nancy; Krantz, Ian; Deardorff, Matt; Santani, Avni.

Genet Med; 20(3): 329-336, 2018 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-29389922

15.

Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

Gibson, Kristin McDonald; Nesbitt, Addie; Cao, Kajia; Yu, Zhenming; Denenberg, Elizabeth; DeChene, Elizabeth; Guan, Qiaoning; Bhoj, Elizabeth; Zhou, Xiangdong; Zhang, Bo; Wu, Chao; Dubbs, Holly; Wilkens, Alisha; Medne, Livija; Bedoukian, Emma; White, Peter S; Pennington, Jeffrey; Luo, Minjie; Conlin, Laura; Monos, Dimitri; Sarmady, Mahdi; Marsh, Eric; Zackai, Elaine; Spinner, Nancy; Krantz, Ian; Deardorff, Matt; Santani, Avni.

Genet Med; 20(11): 1486, 2018 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-29419820

16.

Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

Gibson, Kristin McDonald; Nesbitt, Addie; Cao, Kajia; Yu, Zhenming; Denenberg, Elizabeth; DeChene, Elizabeth; Guan, Qiaoning; Bhoj, Elizabeth; Zhou, Xiangdong; Zhang, Bo; Wu, Chao; Dubbs, Holly; Wilkens, Alisha; Medne, Livija; Bedoukian, Emma; White, Peter S; Pennington, Jeffrey; Lou, Minjie; Conlin, Laura; Monos, Dimitri; Sarmady, Mahdi; Marsh, Eric; Zackai, Elaine; Spinner, Nancy; Krantz, Ian; Deardorff, Matt; Santani, Avni.

Genet Med; 20(10): 1298, 2018 10.

Artigo em Inglês | MEDLINE | ID: mdl-30377334

17.

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard, Sarah; Biswas, Sawona; Li, Mindy H; Jayaraman, Vijayakumar; Slack, Ian; Romasko, Edward J; Sasson, Ariella; Brunton, Joshua; Rajagopalan, Ramakrishnan; Sarmady, Mahdi; Abrudan, Jenica L; Jairam, Sowmya; DeChene, Elizabeth T; Ying, Xiahoan; Choi, Jiwon; Wilkens, Alisha; Raible, Sarah E; Scarano, Maria I; Santani, Avni; Pennington, Jeffrey W; Luo, Minjie; Conlin, Laura K; Devkota, Batsal; Dulik, Matthew C; Spinner, Nancy B; Krantz, Ian D.

Genet Med; 2018 Jun 15.

Artigo em Inglês | MEDLINE | ID: mdl-29907799

18.

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

Sanghvi, Rashesh V; Buhay, Christian J; Powell, Bradford C; Tsai, Ellen A; Dorschner, Michael O; Hong, Celine S; Lebo, Matthew S; Sasson, Ariella; Hanna, David S; McGee, Sean; Bowling, Kevin M; Cooper, Gregory M; Gray, David E; Lonigro, Robert J; Dunford, Andrew; Brennan, Christine A; Cibulskis, Carrie; Walker, Kimberly; Carneiro, Mauricio O; Sailsbery, Joshua; Hindorff, Lucia A; Robinson, Dan R; Santani, Avni; Sarmady, Mahdi; Rehm, Heidi L; Biesecker, Leslie G; Nickerson, Deborah A; Hutter, Carolyn M; Garraway, Levi; Muzny, Donna M; Wagle, Nikhil.

Genet Med; 20(8): 855-866, 2018 08.

Artigo em Inglês | MEDLINE | ID: mdl-29144510

19.

Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.

Ritter, Alyssa L; McDougall, Carey; Skraban, Cara; Medne, Livija; Bedoukian, Emma C; Asher, Stephanie B; Balciuniene, Jorune; Campbell, Colleen D; Baker, Samuel W; Denenberg, Elizabeth H; Mazzola, Sarah; Fiordaliso, Sarah K; Krantz, Ian D; Kaplan, Paige; Ierardi-Curto, Lynne; Santani, Avni B; Zackai, Elaine H; Izumi, Kosuke.

Am J Med Genet A; 176(9): 1890-1896, 2018 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-30152016

20.

Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.

Bhoj, Elizabeth J; Yu, Zhenming; Guan, Qiaoning; Ahrens-Nicklas, Rebecca; Cao, Kajia; Luo, Minjie; Tischler, Tanya; Deardorff, Matthew A; Zackai, Elaine; Santani, Avni B.

Genet Med; 19(6): 715-718, 2017 06.

Artigo em Inglês | MEDLINE | ID: mdl-27763634

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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

Clinical utility of exome sequencing in infantile heart failure.

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Muenke syndrome: Medical and surgical comorbidities and long-term management.

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.

Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.