Jill C. Mwenifumbo

Vancouver, BC, Canada

Last Updated: 09/26/2026

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Found 14 publications

Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine.

Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine.

Journal: NPJ genomic medicine
Published: March 28, 2025

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.

Journal: HGG advances
Published: September 26, 2023

Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.

Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.

Journal: Blood
Published: January 26, 2022

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Journal: HGG advances
Published: September 16, 2021

Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.

Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.

Journal: Neurogenetics
Published: September 14, 2020

SETD1B-associated neurodevelopmental disorder.

SETD1B-associated neurodevelopmental disorder.

Journal: Journal of medical genetics
Published: December 05, 2019

Renpenning syndrome in a female.

Renpenning syndrome in a female.

Journal: American journal of medical genetics. Part A
Published: April 13, 2019

Atypical cerebral palsy: genomics analysis enables precision medicine.

Atypical cerebral palsy: genomics analysis enables precision medicine.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 29, 2018

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 14, 2017

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.

Journal: American journal of human genetics
Published: February 21, 2017

FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?

FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?

Journal: American journal of medical genetics. Part A
Published: February 02, 2017

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.

Journal: BMC genomics
Published: November 04, 2016
Showing 1-12 of 14

Last Updated: 09/26/2026