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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 21, 2020
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticistRafael Mena, Esperanza Mendoza, Maria Gomez Peña, et al.
The Journal of Pediatrics|March 19, 2026
Differences in Optic Pathway Glioma Prevalence among Children with Neurofibromatosis Type 1Danae Kokossis, Ethan Hillis, Jenny P Garzon, et al.
Circulation. Genomic and Precision Medicine|June 6, 2022
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary StenosisK Nicole Weaver, Jing Chen, Amy Shikany, et al.
American Journal of Medical Genetics. Part A|February 16, 2021
Everolimus for severe arrhythmias in tuberous sclerosis complex related cardiac rhabdomyomasMaría P Silva-Sánchez, Jorge L Alvarado-Socarras, Javier Castro-Monsalve, et al.
American Journal of Medical Genetics. Part A|February 10, 2019
Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1Alanna M Kongkriangkai, Christopher King, Lisa J Martin, et al.
European Journal of Medical Genetics|November 15, 2020
CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresiaBrittany N Simpson, Divya Khattar, Howard Saal, et al.
The Journal of Pediatrics|July 26, 2011
Cardiac disease in methylmalonic acidemiaCarlos E Prada, Fatma Al Jasmi, Edwin P Kirk, et al.
Prenatal Diagnosis|October 28, 2011
Severe cervical scoliosis in the fetusCarlos E Prada, Elizabeth A Sellars, Christine G Spaeth, et al.
European Journal of Medical Genetics|April 29, 2014
Clinical utility of whole-exome sequencing in rare diseases: GalactosialidosisCarlos E Prada, Claudia Gonzaga-Jauregui, Rebecca Tannenbaum, et al.
Molecular Genetics and Metabolism|November 24, 2023
Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher diseaseCarly A Rasmussen, Allegra Quadri, Erika Vucko, et al.
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