Laurie A. Robak

Pediatrics | Medical Genetics

7200 Cambridge St
Houston, TX 77030

Last Updated: 09/26/2026

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Found 23 publications

Brain malformations and seizures by impaired chaperonin function of TRiC.

Brain malformations and seizures by impaired chaperonin function of TRiC.

Journal: Science (New York, N.Y.)

Published: October 31, 2024

MGA-related syndrome: A proposed novel disorder.

MGA-related syndrome: A proposed novel disorder.

Journal: HGG advances

Published: October 02, 2024

Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.

Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.

Journal: Cell reports

Published: August 15, 2024

RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.

RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.

Journal: Journal of genetics and genomics = Yi chuan xue bao

Published: May 30, 2024

Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.

Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.

Journal: Nature aging

Published: May 01, 2024

Improving access to exome sequencing in a medically underserved population through the Texome Project.

Improving access to exome sequencing in a medically underserved population through the Texome Project.

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

Published: September 26, 2023

Genetics and Pathogenesis of Parkinson's Syndrome.

Genetics and Pathogenesis of Parkinson's Syndrome.

Journal: Annual review of pathology

Published: September 13, 2022

ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.

ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.

Journal: Annals of clinical and translational neurology

Published: March 22, 2022

Genome Sequencing in the Parkinson Disease Clinic.

Genome Sequencing in the Parkinson Disease Clinic.

Journal: Neurology. Genetics

Published: November 27, 2021

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.

Journal: American journal of medical genetics. Part A

Published: December 30, 2020

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.

Journal: Human mutation

Published: January 04, 2020

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.

Journal: Neurology. Genetics

Published: December 27, 2019

Showing 1-12 of 23

Last Updated: 09/26/2026