Laura S Farach

Laura S Farach

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Laura S Farach

Laura S Farach

Publications by authors named "Laura S Farach"

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10Publications

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 2019

Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.

Pediatr Neurol 2019 07 13;96:58-63. Epub 2019 Mar 13.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6837240PMC
July 2019

A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype.

Am J Med Genet A 2019 05 25;179(5):852-856. Epub 2019 Feb 25.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.61101DOI Listing
May 2019

The Impact of Psychiatric Symptoms on Tuberous Sclerosis Complex and Utilization of Mental Health Treatment.

Pediatr Neurol 2019 02 3;91:41-49. Epub 2018 Nov 3.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health at Houston, Houston, Texas; University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, Texas. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.10.011DOI Listing
February 2019

Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions.

J Child Neurol 2019 Jan 4:883073818821036. Epub 2019 Jan 4.

2 Genetic Counseling Program, University of Texas MD Anderson Cancer Center, UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA.

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http://dx.doi.org/10.1177/0883073818821036DOI Listing
January 2019

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.

Am J Med Genet A 2018 02 19;176(2):465-469. Epub 2017 Dec 19.

Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

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http://dx.doi.org/10.1002/ajmg.a.38581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6774248PMC
February 2018

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.

Am J Med Genet A 2017 Mar;173(3):771-775

Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.38083DOI Listing
March 2017

KIAA2022 nonsense mutation in a symptomatic female.

Am J Med Genet A 2016 Mar 17;170(3):703-6. Epub 2015 Nov 17.

Division of Medical Genetics, Department of Pediatrics, University of Texas Medical School at Houston, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37479DOI Listing
March 2016

Therapeutic challenges in treating patients with fragile X syndrome and neoplasia.

Pediatr Blood Cancer 2013 Dec 20;60(12):E153-6. Epub 2013 Jul 20.

Department of Radiation Oncology, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/pbc.24688DOI Listing
December 2013