Miriam Fernandez-Fanjul
Parkville, VIC 3052, Australia
Last Updated: 09/26/2026
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Found 11 publications
Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education.
Journal: American journal of human genetics
Published: November 17, 2025
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Journal: Human mutation
Published: February 13, 2021
Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing.
Journal: Brain communications
Published: August 03, 2020
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Journal: Molecular genetics & genomic medicine
Published: April 30, 2020
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
Journal: Journal of clinical medicine
Published: October 09, 2019
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.
Journal: European journal of human genetics : EJHG
Published: January 05, 2019
Cerebral hypomyelination associated with biallelic variants of FIG4.
Journal: Human mutation
Published: August 21, 2018
Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 23, 2017
Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.
Journal: Annals of clinical and translational neurology
Published: September 07, 2017
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
Journal: Annals of neurology
Published: June 09, 2015
Showing 1-11 of 11
Last Updated: 09/26/2026