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American Journal of Medical Genetics. Part A|April 8, 2015
Adult presentation of X-linked Conradi-Hünermann-Happle syndromeJennifer E Posey, Lindsay C Burrage, Philippe M Campeau, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2021
Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic recordsKelly M Schiabor Barrett, Alexandre Bolze, Yunyun Ni, et al.Human Molecular Genetics|August 10, 2012
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosisPhilippe M Campeau, James T Lu, Gautam Sule, et al.The Journal of Clinical Endocrinology and Metabolism|July 23, 2014
Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosisAbbhirami Rajagopal, Débora Braslavsky, James T Lu, et al.Nature Communications|January 30, 2020
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohortsElizabeth T Cirulli, Simon White, Robert W Read, et al.Molecular Genetics and Metabolism Reports|June 20, 2017
A non-mosaic <i>PORCN</i> mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasiaSimran Madan, Wei Liu, James T Lu, et al.American Journal of Medical Genetics. Part A|November 27, 2016
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathiesKeren Machol, Mahim Jain, Mohammed Almannai, et al.American Journal of Human Genetics|April 30, 2013
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatasePhilippe M Campeau, Guy M Lenk, James T Lu, et al.The Journal of Clinical Investigation|March 7, 2017
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasiaAdetutu T Egunsola, Yangjin Bae, Ming-Ming Jiang, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 15, 2013
Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutationJay R Shapiro, Caressa Lietman, Monica Grover, et al.Pageof 4