Daniel A. Doherty

Pediatrics

4800 Sand Point Way NE
Seattle, WA 98105

Last Updated: 09/26/2026

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Found 13 publications

Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.

Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.

Journal: Therapeutic advances in respiratory disease

Published: January 16, 2025

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.

Journal: Rare (Amsterdam, Netherlands)

Published: October 18, 2024

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.

Journal: American journal of human genetics

Published: September 13, 2024

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.

Journal: bioRxiv : the preprint server for biology

Published: February 17, 2023

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.

Journal: Neurology. Genetics

Published: February 03, 2023

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.

Journal: Annals of clinical and translational neurology

Published: January 30, 2023

Cas12a-Capture: A Novel, Low-Cost, and Scalable Method for Targeted Sequencing.

Cas12a-Capture: A Novel, Low-Cost, and Scalable Method for Targeted Sequencing.

Journal: The CRISPR journal

Published: July 14, 2022

Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments.

Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments.

Journal: Annals of neurology

Published: December 14, 2018

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Journal: Ophthalmology

Published: March 10, 2018

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

Journal: Clinical journal of the American Society of Nephrology : CJASN

Published: May 26, 2017

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 05, 2016

Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.

Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.

Journal: Cell metabolism

Published: June 03, 2013

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Last Updated: 09/26/2026