GRIPT: a novel case-control analysis method for Mendelian disease gene discovery.

Autor: Wang J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Zhao L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Structural and Computational Biology and Molecular Biophysics Graduate Program, Baylor College of Medicine, Houston, TX, 77030, USA., Wang X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Miraca Genetics Laboratories, Houston, TX, 77030, USA., Chen Y; Shanghai Key Lab of Intelligent Information Processing, School of Computer Science and Technology, Fudan University, Shanghai, China., Xu M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Soens ZT; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Ge Z; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Wang PR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Wang F; Shanghai Key Lab of Intelligent Information Processing, School of Computer Science and Technology, Fudan University, Shanghai, China., Chen R; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. ruichen@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. ruichen@bcm.edu.; Structural and Computational Biology and Molecular Biophysics Graduate Program, Baylor College of Medicine, Houston, TX, 77030, USA. ruichen@bcm.edu.

Publikováno v: Genome biology [Genome Biol] 2018 Nov 26; Vol. 19 (1), pp. 203. Date of Electronic Publication: 2018 Nov 26.

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Autor: Soens ZT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Branch J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Wu S; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China., Yuan Z; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China., Li Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Li H; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China., Wang K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Xu M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Rajan L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Motta FL; Department of Ophthalmology and Visual Sciences, Paulista School of Medicine, Federal University of São Paulo, São Paulo, Brazil., Simões RT; Department of Retina and Vitreous, Ophthalmologic Center of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.; Instituto de Ensino e Pesquisa da Santa Casa de Belo Horizonte Hospital - IEP/SCBH, Belo Horizonte, Minas Gerais, Brazil., Lopez-Solache I; McGill Ocular Genetics Laboratory and Centre, Department of Paediatric Surgery, Human Genetics, and Ophthalmology, McGill University Health Centre, Montreal, Quebec, Canada., Ajlan R; McGill Ocular Genetics Laboratory and Centre, Department of Paediatric Surgery, Human Genetics, and Ophthalmology, McGill University Health Centre, Montreal, Quebec, Canada., Birch DG; Retina Foundation of the Southwest and Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, Texas., Zhao P; Department of Ophthalmology, Xin Hua Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China., Porto FB; Department of Retina and Vitreous, Ophthalmologic Center of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.; Instituto de Ensino e Pesquisa da Santa Casa de Belo Horizonte Hospital - IEP/SCBH, Belo Horizonte, Minas Gerais, Brazil., Sallum J; Department of Ophthalmology and Visual Sciences, Paulista School of Medicine, Federal University of São Paulo, São Paulo, Brazil., Koenekoop RK; McGill Ocular Genetics Laboratory and Centre, Department of Paediatric Surgery, Human Genetics, and Ophthalmology, McGill University Health Centre, Montreal, Quebec, Canada., Sui R; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China., Chen R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas.; Department of Structural and Computational Biology & Molecular Biophysics, Baylor College of Medicine, Houston, Texas.

Publikováno v: Human mutation [Hum Mutat] 2017 Nov; Vol. 38 (11), pp. 1521-1533. Date of Electronic Publication: 2017 Aug 18.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Autor: Xu M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Xie YA; Department of Ophthalmology, Columbia University, New York, NY 10032, USA., Abouzeid H; Institute for Research in Ophthalmology, 1950 Sion, Switzerland., Gordon CT; Laboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France., Fiorentino A; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Sun Z; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China., Lehman A; Department of Medical Genetics, The University of British Columbia, Vancouver, BC V6H 3N1, Canada., Osman IS; Department of Ophthalmology, Cairo University, Cairo 11562, Egypt., Dharmat R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Riveiro-Alvarez R; Department of Genetics, Instituto de Investigación Sanitaria - Fundacion Jimenez Diaz (IIS-FJD), 28040 Madrid, Spain; Centros de Investigación Biomédica en Red Enfermedades Raras, Instituto de Salud Carlos III (CIBERER-ISCIII), 28029 Madrid, Spain., Bapst-Wicht L; Institute for Research in Ophthalmology, 1950 Sion, Switzerland., Babino D; Department of Pharmacology, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA., Arno G; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK., Busetto V; Laboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Institut de Biologie de l'ENS (IBENS), CNRS UMR 8197, INSERM U1024, Ecole Normale Supérieure, PSL Research University, 75005 Paris, France., Zhao L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77054, USA., Li H; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China., Lopez-Martinez MA; Department of Genetics, Instituto de Investigación Sanitaria - Fundacion Jimenez Diaz (IIS-FJD), 28040 Madrid, Spain; Centros de Investigación Biomédica en Red Enfermedades Raras, Instituto de Salud Carlos III (CIBERER-ISCIII), 28029 Madrid, Spain., Azevedo LF; Institute for Research in Ophthalmology, 1950 Sion, Switzerland., Hubert L; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Translational Genetics, INSERM UMR 1163, Institut Imagine, 75015 Paris, France., Pontikos N; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Genetics Institute, University College London, London WC1E 6BT, UK., Eblimit A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Lorda-Sanchez I; Department of Genetics, Instituto de Investigación Sanitaria - Fundacion Jimenez Diaz (IIS-FJD), 28040 Madrid, Spain; Centros de Investigación Biomédica en Red Enfermedades Raras, Instituto de Salud Carlos III (CIBERER-ISCIII), 28029 Madrid, Spain., Kheir V; Institute for Research in Ophthalmology, 1950 Sion, Switzerland., Plagnol V; Genetics Institute, University College London, London WC1E 6BT, UK., Oufadem M; Laboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France., Soens ZT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Yang L; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China., Bole-Feysot C; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Genomic Platform, INSERM UMR 1163, Institut Imagine, 75015 Paris, France., Pfundt R; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6525 Nijmegen, the Netherlands., Allaman-Pillet N; Institute for Research in Ophthalmology, 1950 Sion, Switzerland., Nitschké P; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, 75015 Paris, France., Cheetham ME; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Lyonnet S; Laboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Agrawal SA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Li H; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China., Pinton G; Institute for Research in Ophthalmology, 1950 Sion, Switzerland., Michaelides M; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK., Besmond C; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Translational Genetics, INSERM UMR 1163, Institut Imagine, 75015 Paris, France., Li Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Yuan Z; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China., von Lintig J; Department of Pharmacology, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA., Webster AR; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK., Le Hir H; Institut de Biologie de l'ENS (IBENS), CNRS UMR 8197, INSERM U1024, Ecole Normale Supérieure, PSL Research University, 75005 Paris, France., Stoilov P; Department of Biochemistry and Cancer Institute, Robert C. Byrd Health Sciences Center, West Virginia University, Morgantown, WV 26506, USA., Amiel J; Laboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Hardcastle AJ; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Ayuso C; Department of Genetics, Instituto de Investigación Sanitaria - Fundacion Jimenez Diaz (IIS-FJD), 28040 Madrid, Spain; Centros de Investigación Biomédica en Red Enfermedades Raras, Instituto de Salud Carlos III (CIBERER-ISCIII), 28029 Madrid, Spain., Sui R; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China., Chen R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: ruichen@bcm.edu., Allikmets R; Department of Ophthalmology, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA. Electronic address: rla22@cumc.columbia.edu., Schorderet DF; Institute for Research in Ophthalmology, 1950 Sion, Switzerland; University of Lausanne and Swiss Federal Institute of Technology, 1015 Lausanne, Switzerland.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2017 Apr 06; Vol. 100 (4), pp. 592-604. Date of Electronic Publication: 2017 Mar 09.

Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes.

Autor: Zhao L; Structural and Computational Biology and Molecular Biophysics Graduate Program, Baylor College of Medicine, Houston, Texas 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA;, Chen Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA., Bajaj AO; Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas 77030, USA., Eblimit A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA., Xu M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA., Soens ZT; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA., Wang F; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA., Ge Z; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA., Jung SY; Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas 77030, USA., He F; Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas 77030, USA., Li Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA., Wensel TG; Structural and Computational Biology and Molecular Biophysics Graduate Program, Baylor College of Medicine, Houston, Texas 77030, USA; Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas 77030, USA., Qin J; Structural and Computational Biology and Molecular Biophysics Graduate Program, Baylor College of Medicine, Houston, Texas 77030, USA; Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas 77030, USA., Chen R; Structural and Computational Biology and Molecular Biophysics Graduate Program, Baylor College of Medicine, Houston, Texas 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

Publikováno v: Genome research [Genome Res] 2016 May; Vol. 26 (5), pp. 660-9. Date of Electronic Publication: 2016 Feb 24.

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

Autor: Zhao L; Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA., Wang F, Wang H, Li Y, Alexander S, Wang K, Willoughby CE, Zaneveld JE, Jiang L, Soens ZT, Earle P, Simpson D, Silvestri G, Chen R

Publikováno v: Human genetics [Hum Genet] 2015 Feb; Vol. 134 (2), pp. 217-30. Date of Electronic Publication: 2014 Dec 04.