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Molecular Genetics and Metabolism|October 18, 2011
Acute management of propionic acidemiaKimberly A Chapman, Andrea Gropman, Erin MacLeod, et al.
American Journal of Medical Genetics. Part A|December 11, 2025
Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental HealthJulia M Morales, Camille F Villar, Beatriz Varman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disordersLindsay C Burrage, Lillian Thistlethwaite, Bridget M Stroup, et al.
Genome Medicine|February 7, 2013
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndromeMatthew N Bainbridge, Hao Hu, Donna M Muzny, et al.
Molecular Genetics and Metabolism|October 4, 2011
Chronic management and health supervision of individuals with propionic acidemiaV Reid Sutton, Kimberly A Chapman, Andrea L Gropman, et al.
Journal of Medical Genetics|July 3, 2021
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defectsYoav Bolkier, Ortal Barel, Dina Marek-Yagel, et al.
Frontiers in Genetics|January 26, 2023
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disordersMaayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, et al.
American Journal of Medical Genetics. Part A|June 13, 2015
Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot studyBarbara K Burton, Kenneth I Berger, Gregory D Lewis, et al.
Biorxiv : the Preprint Server for Biology|August 6, 2025
Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamicsChaofan Zhang, Rituparna Sinha Roy, Ming Yin Lun, et al.
Molecular Genetics and Metabolism Reports|September 4, 2023
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiencySamar Rahhal, Cristan Farmer, Audrey Thurm, et al.
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