Last Updated: 09/26/2026
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Found 58 publications
Expanding the Hematologic Phenotype of Arboleda-Tham Syndrome: A Novel KAT6A Variant Associated With Bone Marrow Failure Requiring Hematopoietic Stem Cell Transplantation.
Journal: Pediatric blood & cancer
Published: June 17, 2026
A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review.
Journal: Clinical genetics
Published: June 01, 2026
Concurrent Phenylalanine Hydroxylase-Related Disorder and Celiac: A Rare Co-occurrence With Implications for Clinical Management.
Journal: Annals of internal medicine. Clinical cases
Published: May 28, 2026
Clinical, Genetic, and Endocrine Features of Bardet-Biedl Syndrome in a Pediatric and Adult Cohort.
Journal: American journal of medical genetics. Part A
Published: February 19, 2026
Expanding the Phenotype of TLK2-Related Neurodevelopmental Disorder: Longitudinal Presentation in Two Young Adult Females.
Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Published: August 10, 2025
CHD2-related epilepsy with eyelid myoclonia: Report of three cases.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: September 04, 2024
A familial chromosome 4p16.3 terminal microdeletion that does not cause Wolf-Hirschhorn (4p-) syndrome.
Journal: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology
Published: June 12, 2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Journal: NPJ genomic medicine
Published: August 16, 2023
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Journal: Human genetics
Published: July 06, 2023
Retrospective study of propionic acidemia using natural language processing in Mayo Clinic electronic health record data.
Journal: Molecular genetics and metabolism
Published: June 29, 2023
Impact of integrated translational research on clinical exome sequencing.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 06, 2023
Last Updated: 09/26/2026