Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay, Narayanan Veeraraghavan, Alicia Hawes, Theodore Chiang, Magalie Leduc, Joke Beuten, Jing Zhang, Weimin He, Jennifer Scull, Alecia Willis, Megan Landsverk, William J Craigen, Mir Reza Bekheirnia, Asbjorg Stray-Pedersen, Pengfei Liu, Shu Wen, Wendy Alcaraz, Hong Cui, Magdalena Walkiewicz, Jeffrey Reid, Matthew Bainbridge, Ankita Patel, Eric Boerwinkle, Arthur L Beaudet, James R Lupski, Sharon E Plon, Richard A Gibbs, Christine M Eng. JAMA 2014
Times Cited: 860
Times Cited: 860
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
Times Cited: 1052
Times Cited: 1052
List of shared articles
Times cited
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.
Zefu Chen, Yu Zheng, Yongxin Yang, Yingzhao Huang, Sen Zhao, Hengqiang Zhao, Chenxi Yu, Xiying Dong, Yuanqiang Zhang, Lianlei Wang,[...]. Am J Hum Genet 2022
Zefu Chen, Yu Zheng, Yongxin Yang, Yingzhao Huang, Sen Zhao, Hengqiang Zhao, Chenxi Yu, Xiying Dong, Yuanqiang Zhang, Lianlei Wang,[...]. Am J Hum Genet 2022
Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Eliete da S Rodrigues, Sean Griffith, Renan Martin, Corina Antonescu, Jennifer E Posey, Zeynep Coban-Akdemir, Shalini N Jhangiani, Kimberly F Doheny, James R Lupski, David Valle,[...]. Hum Mutat 2022
Eliete da S Rodrigues, Sean Griffith, Renan Martin, Corina Antonescu, Jennifer E Posey, Zeynep Coban-Akdemir, Shalini N Jhangiani, Kimberly F Doheny, James R Lupski, David Valle,[...]. Hum Mutat 2022
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Chiara Rasi, Daniel Nilsson, Måns Magnusson, Nicole Lesko, Kristina Lagerstedt-Robinson, Anna Wedell, Anna Lindstrand, Valtteri Wirta, Henrik Stranneheim. Hum Mutat 2022
Chiara Rasi, Daniel Nilsson, Måns Magnusson, Nicole Lesko, Kristina Lagerstedt-Robinson, Anna Wedell, Anna Lindstrand, Valtteri Wirta, Henrik Stranneheim. Hum Mutat 2022
Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases.
Ji-Hye Lee. Exp Neurobiol 2022
Ji-Hye Lee. Exp Neurobiol 2022
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
David A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, Zeynep Coban Akdemir, Kyrieckos A Aleck, Danny Antaki, Hind Al Sharhan, Ping-Yee B Au, Hatip Aydin, Alan H Beggs,[...]. Am J Med Genet A 2021
David A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, Zeynep Coban Akdemir, Kyrieckos A Aleck, Danny Antaki, Hind Al Sharhan, Ping-Yee B Au, Hatip Aydin, Alan H Beggs,[...]. Am J Med Genet A 2021
Improving diagnostics of rare genetic diseases with NGS approaches.
Mateja Vinkšel, Karin Writzl, Aleš Maver, Borut Peterlin. J Community Genet 2021
Mateja Vinkšel, Karin Writzl, Aleš Maver, Borut Peterlin. J Community Genet 2021
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Jill A Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, Farah Kanani, Michael J Parker, Mary K Koenig, Arie van Haeringen, Claudia Ruivenkamp, Joana Rosmaninho-Salgado, Pedro M Almeida,[...]. Am J Med Genet A 2021
Jill A Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, Farah Kanani, Michael J Parker, Mary K Koenig, Arie van Haeringen, Claudia Ruivenkamp, Joana Rosmaninho-Salgado, Pedro M Almeida,[...]. Am J Med Genet A 2021
Next-generation sequencing and the evolution of data sharing.
Nara Lygia de Macena Sobreira, Ada Hamosh. Am J Med Genet A 2021
Nara Lygia de Macena Sobreira, Ada Hamosh. Am J Med Genet A 2021