Last Updated: 09/26/2026
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Found 14 publications
Reference Growth Charts for Children With 47,XXY/Klinefelter Syndrome.
Journal: Pediatrics
Published: May 01, 2025
Genetics and Primary Care: Raising Awareness and Enhancing Cooperation.
Journal: Missouri medicine
Published: November 22, 2024
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Journal: American journal of medical genetics. Part A
Published: June 06, 2022
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
Journal: American journal of human genetics
Published: March 27, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 13, 2019
Mobile element insertion detection in 89,874 clinical exomes.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 08, 2019
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.
Journal: Cold Spring Harbor molecular case studies
Published: March 26, 2019
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Journal: American journal of human genetics
Published: May 26, 2017
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
Journal: American journal of medical genetics. Part A
Published: April 28, 2017
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
Journal: Journal of medical genetics
Published: April 27, 2017
Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience.
Journal: Journal of pediatric urology
Published: April 06, 2017
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 26, 2016
Last Updated: 09/26/2026