Mark C. Hannibal

Mark C. Hannibal

Medical Genetics | Pediatrics

1540 East Hospital Drive
Floor 6
Ann Arbor, MI 48109

Last Updated: 09/26/2026

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Found 30 publications

Evidence supporting the role of GIGYF2 in synapse development and autism.

Evidence supporting the role of GIGYF2 in synapse development and autism.

Journal: Molecular psychiatry

Published: July 07, 2025

Successful Use of Targeted HIF-2α Inhibition in EPAS1-Mutated Congenital Erythrocytosis.

Successful Use of Targeted HIF-2α Inhibition in EPAS1-Mutated Congenital Erythrocytosis.

Journal: Pediatric blood & cancer

Published: May 14, 2025

VCP variants cause Adams-Oliver syndrome with or without pulmonary hypertension.

VCP variants cause Adams-Oliver syndrome with or without pulmonary hypertension.

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

Published: November 28, 2024

Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension.

Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension.

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

Published: November 28, 2024

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Journal: American journal of human genetics

Published: August 14, 2024

Heterozygous TCF3-related disease presenting as X-linked agammaglobulinemia mimicry in a male toddler with B-cell aplasia, agammaglobulinemia, and severe neutropenia.

Heterozygous TCF3-related disease presenting as X-linked agammaglobulinemia mimicry in a male toddler with B-cell aplasia, agammaglobulinemia, and severe neutropenia.

Journal: Pediatric blood & cancer

Published: February 16, 2024

Absolute neutrophil count nadir in healthy pediatric patients with the Duffy-null phenotype.

Absolute neutrophil count nadir in healthy pediatric patients with the Duffy-null phenotype.

Journal: Blood advances

Published: April 03, 2023

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

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

Published: March 28, 2023

SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition.

SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition.

Journal: Journal of clinical immunology

Published: May 25, 2022

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.

Journal: American journal of medical genetics. Part A

Published: December 10, 2021

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.

Journal: Pediatric neurology

Published: October 04, 2021

Symptom Prevalence and Genotype-Phenotype Correlations in Patients With TANGO2-Related Metabolic Encephalopathy and Arrhythmias (TRMEA).

Symptom Prevalence and Genotype-Phenotype Correlations in Patients With TANGO2-Related Metabolic Encephalopathy and Arrhythmias (TRMEA).

Journal: Pediatric neurology

Published: November 18, 2020

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Last Updated: 09/26/2026