Marcia C. Willing

Medical Genetics | Pediatrics

1 Childrens Pl
Div Ped Genetics & Genomic Med
Saint Louis, MO 63110

Last Updated: 09/26/2026

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Found 37 publications

CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.

CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.

Journal: Clinical genetics

Published: July 28, 2023

A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.

A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.

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

Published: July 01, 2022

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.

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

Published: September 13, 2021

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.

Journal: European journal of human genetics : EJHG

Published: April 28, 2021

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).

Journal: American journal of medical genetics. Part A

Published: December 07, 2020

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Journal: American journal of human genetics

Published: October 19, 2020

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.

Journal: American journal of medical genetics. Part A

Published: September 29, 2020

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

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

Published: September 06, 2020

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

Journal: Science advances

Published: May 21, 2020

Ectopia lentis in Loeys-Dietz syndrome type 4.

Ectopia lentis in Loeys-Dietz syndrome type 4.

Journal: American journal of medical genetics. Part A

Published: March 30, 2020

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Journal: Human mutation

Published: October 25, 2019

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

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

Published: June 12, 2019

Showing 1-12 of 37

Last Updated: 09/26/2026