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Journal of the National Cancer Institute|April 5, 2017
Germline Mutations in the Kallikrein 6 Region and Predisposition for Aggressive Prostate CancerLaurent Briollais, Hilmi Ozcelik, Jingxiong Xu, et al.
Pediatrics|October 10, 2012
Factors influencing participation in a population-based biorepository for childhood heart diseaseTanya Papaz, Mina Safi, Ashok-Kumar Manickaraj, et al.
The Journal of Pediatrics|August 28, 2019
Brain Injury in Infants with Critical Congenital Heart Disease: Insights from Two Clinical Cohorts with Different Practice ApproachesNathalie H P Claessens, Vann Chau, Linda S de Vries, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challengesSusan Walker, Sylvia Lamoureux, Tayyaba Khan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 28, 2012
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfectaWayne A Cabral, Aileen M Barnes, Adebowale Adeyemo, et al.
American Journal of Human Genetics|December 20, 2011
Mutations in EZH2 cause Weaver syndromeWilliam T Gibson, Rebecca L Hood, Shing Hei Zhan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 3, 2021
The role of digital tools in the delivery of genomic medicine: enhancing patient-centered careSalma Shickh, Sara A Rafferty, Marc Clausen, et al.
American Journal of Medical Genetics. Part A|September 15, 2018
Warsaw breakage syndrome: Further clinical and genetic delineationEbba Alkhunaizi, Ranad Shaheen, Sanjay Kumar Bharti, et al.
Developmental Biology|September 24, 2025
WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse modelsAndrés Hernández-García, Bum Jun Kim, David Chitayat, et al.
Brain : a Journal of Neurology|December 8, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcificationsAshish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, et al.
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