Paul R. Mark

Paul R. Mark

Pediatrics | Medical Genetics

145 Michigan Street Northeast
Suite 6300
Grand Rapids, MI 49503

Last Updated: 09/26/2026

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Found 35 publications

A zebrafish model of nicotinamide adenine dinucleotide (NAD+) deficiency-derived congenital disorders.

A zebrafish model of nicotinamide adenine dinucleotide (NAD+) deficiency-derived congenital disorders.

Journal: Developmental biology

Published: January 30, 2025

A zebrafish model of nicotinamide adenine dinucleotide (NAD+) deficiency-derived congenital disorders.

A zebrafish model of nicotinamide adenine dinucleotide (NAD+) deficiency-derived congenital disorders.

Journal: bioRxiv : the preprint server for biology

Published: January 20, 2025

A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.

A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.

Journal: European journal of human genetics : EJHG

Published: January 20, 2025

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

Journal: Human genetics

Published: November 08, 2023

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

Journal: Nature communications

Published: July 14, 2022

Viewing teratogens through the lens of nicotinamide adenine dinucleotide (NAD+).

Viewing teratogens through the lens of nicotinamide adenine dinucleotide (NAD+).

Journal: Birth defects research

Published: May 24, 2022

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

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

Published: May 23, 2022

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

Journal: Clinical genetics

Published: March 21, 2022

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.

Journal: American journal of medical genetics. Part A

Published: January 11, 2022

Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.

Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.

Journal: Cold Spring Harbor molecular case studies

Published: November 29, 2021

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Journal: American journal of human genetics

Published: November 05, 2021

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.

Journal: Nature genetics

Published: August 05, 2021

Showing 1-12 of 35

Last Updated: 09/26/2026