Nicole Martin

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 16 publications

Impact of Early Intervention on the Developmental and Ocular Outcome of Patients With Cobalamin C Deficiency Identified Through Newborn Screening.

Impact of Early Intervention on the Developmental and Ocular Outcome of Patients With Cobalamin C Deficiency Identified Through Newborn Screening.

Journal: Journal of inherited metabolic disease

Published: July 18, 2025

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

Journal: European journal of human genetics : EJHG

Published: January 06, 2024

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

Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.

Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.

Journal: American journal of medical genetics. Part A

Published: June 14, 2022

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

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

Published: October 20, 2021

Heterozygous NOTCH1 deletion associated with variable congenital heart defects.

Heterozygous NOTCH1 deletion associated with variable congenital heart defects.

Journal: Clinical genetics

Published: November 06, 2020

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

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

Published: July 24, 2020

A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate.

A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate.

Journal: Clinical genetics

Published: April 04, 2020

Warsaw breakage syndrome: Further clinical and genetic delineation.

Warsaw breakage syndrome: Further clinical and genetic delineation.

Journal: American journal of medical genetics. Part A

Published: April 25, 2018

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Journal: JCI insight

Published: September 16, 2016

Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.

Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.

Journal: Clinical genetics

Published: September 14, 2016

Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia.

Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia.

Journal: American journal of medical genetics. Part A

Published: November 15, 2015

Showing 1-12 of 16

Last Updated: 09/26/2026