Last Updated: 09/26/2026
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Found 15 publications
LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
Journal: Clinical genetics
Published: March 27, 2025
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 07, 2022
Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.
Journal: American journal of medical genetics. Part A
Published: August 27, 2020
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.
Journal: The New England journal of medicine
Published: July 04, 2019
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.
Journal: The journal of allergy and clinical immunology. In practice
Published: June 16, 2019
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Journal: American journal of medical genetics. Part A
Published: March 05, 2019
The role of genomic approaches in diagnosis and management of primary immunodeficiency.
Journal: Current opinion in pediatrics
Published: September 21, 2018
Schaaf-Yang syndrome overview: Report of 78 individuals.
Journal: American journal of medical genetics. Part A
Published: August 01, 2018
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Journal: American journal of human genetics
Published: December 18, 2017
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Journal: JAMA pediatrics
Published: October 04, 2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Journal: American journal of human genetics
Published: July 06, 2017
The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.
Journal: American journal of medical genetics. Part A
Published: June 06, 2017
Last Updated: 09/26/2026