Last Updated: 09/26/2026
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Found 12 publications
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Journal: Rare (Amsterdam, Netherlands)
Published: October 18, 2024
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.
Journal: Neurology. Genetics
Published: February 03, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Journal: Annals of clinical and translational neurology
Published: January 30, 2023
Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update.
Journal: Genes
Published: September 29, 2022
Cardiovascular outcomes of pregnancy in Turner syndrome.
Journal: Heart (British Cardiac Society)
Published: February 13, 2020
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Journal: American journal of medical genetics. Part A
Published: October 29, 2018
Postnatal outcomes of prenatally diagnosed 45,X/46,XX.
Journal: American journal of medical genetics. Part A
Published: July 29, 2015
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
Journal: American journal of human genetics
Published: May 15, 2015
So You Want to Be in Journals, or What Happens When You Press "Send".
Journal: Pediatric dermatology
Published: April 08, 2015
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Journal: Genome research
Published: February 01, 2015
Ventral midline blanching in the setting of segmental infantile hemangiomas: clinical observations and pathogenetic implications.
Journal: Pediatric dermatology
Published: December 23, 2014
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Last Updated: 09/26/2026