Last Updated: 09/26/2026
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Found 12 publications
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 09, 2026
Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated Phenotypes.
Journal: Journal of autism and developmental disorders
Published: March 21, 2025
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 30, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Journal: Science (New York, N.Y.)
Published: May 02, 2024
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Journal: Human genetics
Published: December 14, 2023
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Journal: American journal of human genetics
Published: November 27, 2023
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes.
Journal: American journal of medical genetics. Part A
Published: June 30, 2023
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
Journal: JAMA pediatrics
Published: September 27, 2021
A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review.
Journal: American journal of medical genetics. Part A
Published: August 06, 2021
Pervasive inflammatory activation in patients with deficiency in very-long-chain acyl-coA dehydrogenase (VLCADD).
Journal: Clinical & translational immunology
Published: July 01, 2020
Contribution of Family History in Co-occurring Down Syndrome and Ehlers-Danlos Syndrome.
Journal: Annals of paediatric rheumatology
Published: May 20, 2014
Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism.
Journal: American journal of medical genetics. Part A
Published: July 05, 2013
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Last Updated: 09/26/2026