Laura Russell
Montreal, QC, Canada
Last Updated: 09/26/2026
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Found 14 publications
Shashi-Pena syndrome with late-onset specific hypogammaglobinaemia and autoimmune cytopenia.
Journal: BMJ case reports
Published: August 04, 2025
Expanding PIGM-related disorders to coding mutations.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: August 30, 2024
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Journal: American journal of medical genetics. Part A
Published: January 17, 2023
Isolated bilateral congenital lacrimal gland agenesis-a case series.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: July 28, 2020
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Journal: Annals of clinical and translational neurology
Published: August 27, 2019
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 05, 2019
Maternally inherited MAF variant associated with variable expression of Aymé-Gripp syndrome.
Journal: American journal of medical genetics. Part A
Published: March 04, 2019
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.
Journal: Neurogenetics
Published: December 23, 2018
Diagnostic Yield of Intellectual Disability Gene Panels.
Journal: Pediatric neurology
Published: May 24, 2018
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Journal: American journal of human genetics
Published: August 08, 2017
Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.
Journal: Journal of medical genetics
Published: February 08, 2016
Terminal 6p deletion syndrome mimicking CHARGE syndrome: A case report.
Journal: Journal of pediatric genetics
Published: June 01, 2013
Last Updated: 09/26/2026