Richard Sidlow

Medical Genetics | Pediatrics
404 N Keene St
Suite 101
Columbia, MO 65201

Last Updated: 09/26/2026

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Found 45 publications

Unifying the odyssey: artificial intelligence for rare disease diagnosis and therapy.

Unifying the odyssey: artificial intelligence for rare disease diagnosis and therapy.

Journal: Health and technology
Published: April 06, 2026

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG
Published: April 02, 2026

CAPRIN1 (Cell Cycle-Associated Protein 1)-Related Neurodevelopmental Disorder: A Novel Mutation With Ataxia.

CAPRIN1 (Cell Cycle-Associated Protein 1)-Related Neurodevelopmental Disorder: A Novel Mutation With Ataxia.

Journal: Cureus
Published: February 15, 2026

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

Journal: Human molecular genetics
Published: November 07, 2025

A Rare Case of Wolfram Syndrome in a 27-Year-Old Male From Nepal.

A Rare Case of Wolfram Syndrome in a 27-Year-Old Male From Nepal.

Journal: Cureus
Published: October 25, 2025

Hereditary Hyperferritinemia-Cataract Syndrome: A Pediatric Case Without Congenital Cataract.

Hereditary Hyperferritinemia-Cataract Syndrome: A Pediatric Case Without Congenital Cataract.

Journal: Cureus
Published: October 20, 2025

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics
Published: October 19, 2025

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Journal: Epilepsia
Published: October 02, 2025

Atypical Presentation in X-linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus (EBV) Infection, and Neoplasia (XMEN) Disease: A Case Report and Review of Emerging Therapies.

Atypical Presentation in X-linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus (EBV) Infection, and Neoplasia (XMEN) Disease: A Case Report and Review of Emerging Therapies.

Journal: Cureus
Published: August 25, 2025

Neurodevelopmental and Behavioral Phenotypes in 14q11.2 Microduplication Syndrome: A Case Report and Literature Review.

Neurodevelopmental and Behavioral Phenotypes in 14q11.2 Microduplication Syndrome: A Case Report and Literature Review.

Journal: Cureus
Published: August 21, 2025

A Loss-of-Function Variant Causing Primary Autosomal Recessive Hypertrophic Osteoarthropathy.

A Loss-of-Function Variant Causing Primary Autosomal Recessive Hypertrophic Osteoarthropathy.

Journal: Cureus
Published: July 17, 2025

Conifer metabolite pisiferic acid restores activity in human Kv1.2 potassium channels carrying pathogenic sequence variants.

Conifer metabolite pisiferic acid restores activity in human Kv1.2 potassium channels carrying pathogenic sequence variants.

Journal: iScience
Published: April 28, 2025
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Last Updated: 09/26/2026