Julia C. Baptista

Plymouth, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 41 publications

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Journal: medRxiv : the preprint server for health sciences

Published: November 24, 2025

Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.

Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.

Journal: The Journal of clinical investigation

Published: June 10, 2025

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Journal: medRxiv : the preprint server for health sciences

Published: May 19, 2025

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.

Journal: Brain : a journal of neurology

Published: November 02, 2023

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Journal: European journal of human genetics : EJHG

Published: February 08, 2023

Clinical findings and structural analysis involving a patient with a novel KLHL15 variant.

Clinical findings and structural analysis involving a patient with a novel KLHL15 variant.

Journal: European journal of medical genetics

Published: December 23, 2022

Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency.

Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency.

Journal: Nature medicine

Published: November 21, 2022

Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.

Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.

Journal: Journal of neuromuscular diseases

Published: September 04, 2022

Comment on: Disease gene identification strategies for exome sequencing by Gilissen et al. 2012.

Comment on: Disease gene identification strategies for exome sequencing by Gilissen et al. 2012.

Journal: European journal of human genetics : EJHG

Published: July 15, 2022

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Journal: Human molecular genetics

Published: June 19, 2022

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

Journal: American journal of human genetics

Published: March 27, 2022

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.

Journal: European journal of medical genetics

Published: February 11, 2022

Showing 1-12 of 41

Last Updated: 09/26/2026