Last Updated: 09/26/2026
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Found 20 publications
A Case of Encephalocraniocutaneous Lipomatosis (ECCL) With Atypical Clinical Presentation Diagnosed on Molecular Testing: FGFR1 ECCL Tumor Risk.
Journal: American journal of medical genetics. Part A
Published: January 07, 2026
Genetic Testing in Craniofacial Care: Development of Algorithms for Testing Patients with Orofacial Clefting, Branchial Arch Anomalies, and Craniosynostosis.
Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: August 19, 2024
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Journal: NPJ genomic medicine
Published: October 23, 2023
Genetics in Pediatric Practice.
Journal: Pediatric clinics of North America
Published: September 13, 2023
Essential Pieces to the Genetics Puzzle: Family History and Dysmorphology Exam.
Journal: Pediatric clinics of North America
Published: September 13, 2023
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 18, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Journal: NPJ genomic medicine
Published: December 15, 2022
Impact of the COVID-19 pandemic on medical genetics and genomics training: Perspective from clinical trainees.
Journal: American journal of medical genetics. Part A
Published: October 20, 2021
Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 07, 2021
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Journal: Human genetics
Published: November 30, 2020
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Journal: American journal of human genetics
Published: February 03, 2020
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.
Journal: Journal of medical genetics
Published: June 03, 2019
Last Updated: 09/26/2026