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Refinado por: Nome da Publicação: Human Mutation remover
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1
Exomic variants of an elderly cohort of Brazilians in the ABraOM database
Exomic variants of an elderly cohort of Brazilians in the ABraOM database
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Exomic variants of an elderly cohort of Brazilians in the ABraOM database

Naslavsky, Michel Satya ; Yamamoto, Guilherme Lopes ; Almeida, Tatiana Ferreira ; Ezquina, Suzana A. M. ; Sunaga, Daniele Yumi ; Pho, Nam ; Bozoklian, Daniel ; Sandberg, Tatiana Orli Milkewitz ; Brito, Luciano Abreu ; Lazar, Monize ; Bernardo, Danilo Vicensotto ; Amaro, Edson ; Duarte, Yeda A. O. ; Lebrão, Maria Lúcia ; Passos‐Bueno, Maria Rita ; Zatz, Mayana

Human mutation, 2017-07, Vol.38 (7), p.751-763 [Periódico revisado por pares]

United States: Hindawi Limited

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2
Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate
Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate
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Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate

Brito, Luciano Abreu ; Yamamoto, Guilherme Lopes ; Melo, Soraia ; Malcher, Carolina ; Ferreira, Simone Gomes ; Figueiredo, Joana ; Alvizi, Lucas ; Kobayashi, Gerson Shigeru ; Naslavsky, Michel Satya ; Alonso, Nivaldo ; Felix, Temis Maria ; Zatz, Mayana ; Seruca, Raquel ; Passos-Bueno, Maria Rita

Human mutation, 2015-11, Vol.36 (11), p.1029-1033 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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3
Variant interpretation using population databases: Lessons from gnomAD
Variant interpretation using population databases: Lessons from gnomAD
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Variant interpretation using population databases: Lessons from gnomAD

Gudmundsson, Sanna ; Singer‐Berk, Moriel ; Watts, Nicholas A. ; Phu, William ; Goodrich, Julia K. ; Solomonson, Matthew ; Rehm, Heidi L. ; MacArthur, Daniel G. ; O'Donnell‐Luria, Anne

Human mutation, 2022-08, Vol.43 (8), p.1012-1030 [Periódico revisado por pares]

United States: Hindawi Limited

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4
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Cordeddu, Viviana ; Yin, Jiani C. ; Gunnarsson, Cecilia ; Virtanen, Carl ; Drunat, Séverine ; Lepri, Francesca ; De Luca, Alessandro ; Rossi, Cesare ; Ciolfi, Andrea ; Pugh, Trevor J. ; Bruselles, Alessandro ; Priest, James R. ; Pennacchio, Len A. ; Lu, Zhibin ; Danesh, Arnavaz ; Quevedo, Rene ; Hamid, Alaa ; Martinelli, Simone ; Pantaleoni, Francesca ; Gnazzo, Maria ; Daniele, Paola ; Lissewski, Christina ; Bocchinfuso, Gianfranco ; Stella, Lorenzo ; Odent, Sylvie ; Philip, Nicole ; Faivre, Laurence ; Vlckova, Marketa ; Seemanova, Eva ; Digilio, Cristina ; Zenker, Martin ; Zampino, Giuseppe ; Verloes, Alain ; Dallapiccola, Bruno ; Roberts, Amy E. ; Cavé, Hélène ; Gelb, Bruce D. ; Neel, Benjamin G. ; Tartaglia, Marco

Human mutation, 2015-11, Vol.36 (11), p.1080-1087 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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5
Whole‐exome sequencing of non‐BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer
Whole‐exome sequencing of non‐BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer
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Whole‐exome sequencing of non‐BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer

Felicio, Paula S. ; Grasel, Rebeca S. ; Campacci, Natalia ; Paula, Andre E. ; Galvão, Henrique C. R. ; Torrezan, Giovana T. ; Sabato, Cristina S. ; Fernandes, Gabriela C. ; Souza, Cristiano P. ; Michelli, Rodrigo D. ; Andrade, Carlos E. ; Barros, Bruna Durães De Figueiredo ; Matsushita, Marcus M. ; Revil, Timothée ; Ragoussis, Jiannis ; Couch, Fergus J. ; Hart, Steven N. ; Reis, Rui M. ; Melendez, Matias E. ; Tonin, Patricia N. ; Carraro, Dirce M. ; Palmero, Edenir I.

Human mutation, 2021-03, Vol.42 (3), p.290-299 [Periódico revisado por pares]

United States: Hindawi Limited

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6
Rare RELN variants affect Reelin–DAB1 signal transduction in autism spectrum disorder
Rare RELN variants affect Reelin–DAB1 signal transduction in autism spectrum disorder
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Rare RELN variants affect Reelin–DAB1 signal transduction in autism spectrum disorder

Sánchez‐Sánchez, Sandra M. ; Magdalon, Juliana ; Griesi‐Oliveira, Karina ; Yamamoto, Guilherme L. ; Santacruz‐Perez, Carolina ; Fogo, Mariana ; Passos‐Bueno, Maria Rita ; Sertié, Andrea L.

Human mutation, 2018-10, Vol.39 (10), p.1372-1383 [Periódico revisado por pares]

United States: Hindawi Limited

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7
Variant‐level matching for diagnosis and discovery: Challenges and opportunities
Variant‐level matching for diagnosis and discovery: Challenges and opportunities
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Variant‐level matching for diagnosis and discovery: Challenges and opportunities

Rodrigues, Eliete da S. ; Griffith, Sean ; Martin, Renan ; Antonescu, Corina ; Posey, Jennifer E. ; Coban‐Akdemir, Zeynep ; Jhangiani, Shalini N. ; Doheny, Kimberly F. ; Lupski, James R. ; Valle, David ; Bamshad, Michael J. ; Hamosh, Ada ; Sheffer, Assaf ; Chong, Jessica X. ; Einhorn, Yaron ; Cupak, Miro ; Sobreira, Nara

Human mutation, 2022-06, Vol.43 (6), p.782-790 [Periódico revisado por pares]

United States: Hindawi Limited

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8
Qatar genome: Insights on genomics from the Middle East
Qatar genome: Insights on genomics from the Middle East
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Qatar genome: Insights on genomics from the Middle East

Mbarek, Hamdi ; Devadoss Gandhi, Geethanjali ; Selvaraj, Senthil ; Al‐Muftah, Wadha ; Badji, Radja ; Al‐Sarraj, Yasser ; Saad, Chadi ; Darwish, Dima ; Alvi, Muhammad ; Fadl, Tasnim ; Yasin, Heba ; Alkuwari, Fatima ; Razali, Rozaimi ; Aamer, Waleed ; Abbaszadeh, Fatemeh ; Ahmed, Ikhlak ; Mokrab, Younes ; Suhre, Karsten ; Albagha, Omar ; Fakhro, Khalid ; Badii, Ramin ; Ismail, Said I. ; Althani, Asma

Human mutation, 2022-04, Vol.43 (4), p.499-510 [Periódico revisado por pares]

United States: Hindawi Limited

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9
Variant calling: Considerations, practices, and developments
Variant calling: Considerations, practices, and developments
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Variant calling: Considerations, practices, and developments

Zverinova, Stepanka ; Guryev, Victor

Human mutation, 2022-08, Vol.43 (8), p.976-985 [Periódico revisado por pares]

United States: Hindawi Limited

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10
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians
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A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

Kausthubham, Neethukrishna ; Shukla, Anju ; Gupta, Neerja ; Bhavani, Gandham S. ; Kulshrestha, Samarth ; Das Bhowmik, Aneek ; Moirangthem, Amita ; Bijarnia‐Mahay, Sunita ; Kabra, Madhulika ; Puri, Ratna D. ; Mandal, Kausik ; Verma, Ishwar C. ; Bielas, Stephanie L. ; Phadke, Shubha R. ; Dalal, Ashwin ; Girisha, Katta M.

Human mutation, 2021-04, Vol.42 (4), p.e15-e61 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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Deste Autor:

  1. Passos-Bueno, M
  2. Zatz, M
  3. Yamamoto, G
  4. Brito, L
  5. Naslavsky, M

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Humans
  5. Genomics

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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