Millan S. Patel

Vancouver, BC, Canada

Last Updated: 09/26/2026

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Found 39 publications

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

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.

Journal: European journal of human genetics : EJHG

Published: October 05, 2024

NOTCH1 loss of the TAD and PEST domain: An antimorph?

NOTCH1 loss of the TAD and PEST domain: An antimorph?

Journal: American journal of medical genetics. Part A

Published: October 22, 2022

The practice of genomic medicine: A delineation of the process and its governing principles.

The practice of genomic medicine: A delineation of the process and its governing principles.

Journal: Frontiers in medicine

Published: October 16, 2022

Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.

Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.

Journal: Prenatal diagnosis

Published: July 27, 2022

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

Prevalence of ocular anomalies is increased in women with polycystic ovary syndrome-exploration of association with PAX6 genotype.

Prevalence of ocular anomalies is increased in women with polycystic ovary syndrome-exploration of association with PAX6 genotype.

Journal: Ophthalmic genetics

Published: January 12, 2022

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.

Journal: American journal of medical genetics. Part A

Published: January 06, 2022

Comprehensive human amniotic fluid metagenomics supports the sterile womb hypothesis.

Comprehensive human amniotic fluid metagenomics supports the sterile womb hypothesis.

Journal: Scientific reports

Published: October 02, 2021

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

Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.

Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.

Journal: Cold Spring Harbor molecular case studies

Published: July 15, 2021

Showing 1-12 of 39

Last Updated: 09/26/2026