Michele J. Spencer-Manzon

Medical Genetics
1 Long Wharf Dr
New Haven, CT 06511

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 15 publications

Copy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing.

Copy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing.

Journal: Genes
Published: June 24, 2025

Cutaneous Squamous Cell Carcinoma in Transketolase Deficiency.

Cutaneous Squamous Cell Carcinoma in Transketolase Deficiency.

Journal: JAMA otolaryngology-- head & neck surgery
Published: September 26, 2024

A Unique Presentation of Nodular Masses in Infancy.

A Unique Presentation of Nodular Masses in Infancy.

Journal: NeoReviews
Published: January 29, 2024

Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3).

Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3).

Journal: Genes
Published: December 19, 2022

A retrospective cohort analysis of the Yale pediatric genomics discovery program.

A retrospective cohort analysis of the Yale pediatric genomics discovery program.

Journal: American journal of medical genetics. Part A
Published: March 10, 2022

Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.

Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.

Journal: American journal of medical genetics. Part A
Published: December 08, 2021

A 6-year-old Refugee Girl with Profound Developmental Disability and Seizures.

A 6-year-old Refugee Girl with Profound Developmental Disability and Seizures.

Journal: Pediatrics in review
Published: January 02, 2021

Antenatally detected liver and biliary pathology.

Antenatally detected liver and biliary pathology.

Journal: Seminars in pediatric surgery
Published: August 31, 2020

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.

Journal: American journal of medical genetics. Part A
Published: February 17, 2020

DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.

DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.

Journal: American journal of medical genetics. Part A
Published: February 07, 2020

A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.

A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.

Journal: Frontiers in genetics
Published: July 21, 2019

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants.

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants.

Journal: Frontiers in physiology
Published: July 19, 2019
Showing 1-12 of 15

Last Updated: 09/26/2026