Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 93 publications
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Journal: medRxiv : the preprint server for health sciences
Published: March 11, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Journal: medRxiv : the preprint server for health sciences
Published: March 11, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Journal: American journal of human genetics
Published: February 15, 2026
Genome Sequences of Cluster A Mycobacteriophages Dorothea and LappelDuVide, Isolated on Mycobacterium smegmatis mc 2 155.
Journal: microPublication biology
Published: October 01, 2025
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 09, 2025
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 24, 2024
Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements.
Journal: medRxiv : the preprint server for health sciences
Published: July 01, 2024
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders.
Journal: Human genetics
Published: May 19, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Journal: Science (New York, N.Y.)
Published: April 25, 2024
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
Journal: NPJ genomic medicine
Published: March 27, 2024
Management of Prenatal Expanded Genetic Carrier Screening Results for Autosomal Recessive Sensorineural Hearing Loss.
Journal: Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
Published: February 09, 2024
PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss.
Journal: medRxiv : the preprint server for health sciences
Published: October 24, 2023
Last Updated: 09/26/2026