Last Updated: 09/26/2026
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Found 16 publications
Demographic Composition of Participants in Sex Chromosome Aneuploidy Studies across the Globe: a 20-year Systematic Review.
Journal: medRxiv : the preprint server for health sciences
Published: June 30, 2025
Demographic Composition of Participants in Sex Chromosome Aneuploidy Studies Across the Globe: A 20-Year Systematic Review.
Journal: American journal of medical genetics. Part A
Published: June 16, 2025
Generating Advancements in Longitudinal Analysis in X and Y Variations: Rationale, Methods, and Diagnostic Characteristics for the GALAXY Registry.
Journal: American journal of medical genetics. Part A
Published: December 03, 2024
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.
Journal: JAMA
Published: October 24, 2024
Identification of a novel homozygous missense mutation in the Phospholipase C, delta-1 gene associated with leukonychia in a Middle Eastern patient.
Journal: JAAD case reports
Published: January 05, 2024
Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.
Journal: Annals of clinical and translational neurology
Published: March 15, 2023
Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic.
Journal: International journal of neonatal screening
Published: February 04, 2022
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 06, 2020
Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 10, 2017
Psychological stress associated with cardiogenetic conditions.
Journal: Personalized medicine
Published: November 29, 2014
Translating advances in cardiogenetics into effective clinical practice.
Journal: Qualitative health research
Published: August 13, 2014
Last Updated: 09/26/2026