Scott D. Mclean

Medical Genetics | Pediatrics

333 N Santa Rosa St
F4677
San Antonio, TX 78207

Last Updated: 09/26/2026

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Found 28 publications

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Journal: American journal of human genetics

Published: February 12, 2026

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Journal: American journal of human genetics

Published: April 07, 2025

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

Journal: American journal of human genetics

Published: March 25, 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

DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.

DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.

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

Published: June 07, 2023

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

Journal: Pediatric neurology

Published: May 16, 2023

Hashitoxicosis in a patient with Nicolaides-Baraitser Syndrome: a case report.

Hashitoxicosis in a patient with Nicolaides-Baraitser Syndrome: a case report.

Journal: Clinical dysmorphology

Published: February 13, 2023

Patterns of co-occurring birth defects in children with anotia and microtia.

Patterns of co-occurring birth defects in children with anotia and microtia.

Journal: American journal of medical genetics. Part A

Published: October 27, 2022

Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.

Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 30, 2022

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

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

Published: April 10, 2022

Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader-Willi/Angelman syndromes?

Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader-Willi/Angelman syndromes?

Journal: Molecular cytogenetics

Published: June 15, 2021

Corrigendum to "Patterns of co-occurring birth defects among infants with hypospadiasˮ [J Pediatr Urol 17 (2021) 64.e1-64.e8].

Corrigendum to "Patterns of co-occurring birth defects among infants with hypospadiasˮ [J Pediatr Urol 17 (2021) 64.e1-64.e8].

Journal: Journal of pediatric urology

Published: June 01, 2021

Showing 1-12 of 28

Last Updated: 09/26/2026