Laurie H. Seaver

Medical Genetics

25 Michigan St Ne Ste 2100
Grand Rapids, MI 49503

Last Updated: 09/26/2026

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Found 40 publications

Acute Choreoathetosis and Multisystem Inflammatory Syndrome in Children (MIS-C) Associated With a Novel Homozygous MDH2 Variant.

Acute Choreoathetosis and Multisystem Inflammatory Syndrome in Children (MIS-C) Associated With a Novel Homozygous MDH2 Variant.

Journal: Journal of child neurology

Published: May 19, 2026

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

Journal: Annals of neurology

Published: May 11, 2025

Allogeneic hematopoietic cell transplantation rescues congenital red cell aplasia in H syndrome due to SLC29A3 mutations.

Allogeneic hematopoietic cell transplantation rescues congenital red cell aplasia in H syndrome due to SLC29A3 mutations.

Journal: Haematologica

Published: April 22, 2025

C1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female.

C1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female.

Journal: Journal of inherited metabolic disease

Published: September 30, 2024

Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.

Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.

Journal: American journal of medical genetics. Part A

Published: August 11, 2024

Points to consider for providing expert witness testimony for the specialty of medical genetics: A statement of the American College of Medical Genetics and Genomics (ACMG).

Points to consider for providing expert witness testimony for the specialty of medical genetics: A statement of the American College of Medical Genetics and Genomics (ACMG).

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

Published: July 23, 2024

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Journal: medRxiv : the preprint server for health sciences

Published: April 02, 2024

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Journal: American journal of human genetics

Published: June 10, 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

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.

Journal: American journal of medical genetics. Part A

Published: November 18, 2022

Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG).

Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG).

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

Published: October 29, 2021

PTPN4 germline variants result in aberrant neurodevelopment and growth.

PTPN4 germline variants result in aberrant neurodevelopment and growth.

Journal: HGG advances

Published: September 16, 2021

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Last Updated: 09/26/2026