Jodi D. Hoffman

Medical Genetics

275 Sandwich Street
Plymouth, MA 02360

Last Updated: 09/26/2026

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Found 21 publications

A quantitative exploration of the clinical genetics curricula across genetic counseling training programs in the United States and Canada.

A quantitative exploration of the clinical genetics curricula across genetic counseling training programs in the United States and Canada.

Journal: Journal of genetic counseling

Published: September 08, 2025

Expedited workflow for autism spectrum disorder in a pediatric genetics clinic.

Expedited workflow for autism spectrum disorder in a pediatric genetics clinic.

Journal: Journal of community genetics

Published: February 05, 2025

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Journal: American journal of medical genetics. Part A

Published: March 23, 2023

Neonatal arrhythmias in Turner syndrome: a case report and review of the literature.

Neonatal arrhythmias in Turner syndrome: a case report and review of the literature.

Journal: European heart journal. Case reports

Published: November 03, 2020

Complexities of Clinical Genetics Consultation: An Interprofessional Clinical Skills Workshop.

Complexities of Clinical Genetics Consultation: An Interprofessional Clinical Skills Workshop.

Journal: MedEdPORTAL : the journal of teaching and learning resources

Published: April 29, 2020

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.

Journal: Prenatal diagnosis

Published: April 03, 2020

Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy.

Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy.

Journal: Ophthalmic genetics

Published: January 14, 2020

Urogenital and pelvic complications in the Ehlers-Danlos syndromes and associated hypermobility spectrum disorders: A scoping review.

Urogenital and pelvic complications in the Ehlers-Danlos syndromes and associated hypermobility spectrum disorders: A scoping review.

Journal: Clinical genetics

Published: July 26, 2019

Response to Knoppers et al.

Response to Knoppers et al.

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

Published: March 08, 2019

Hypotonia and Lethargy in a Two-Day-Old Male Infant.

Hypotonia and Lethargy in a Two-Day-Old Male Infant.

Journal: Pediatrics

Published: December 18, 2018

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).

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

Published: November 15, 2018

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Journal: Nature genetics

Published: May 27, 2017

Showing 1-12 of 21

Last Updated: 09/26/2026