John B. Moeschler
Medical Genetics
1 Medical Center Dr
Dhmc Dept. Of Pediatrics (genetics)
Lebanon, NH 03756
Dhmc Dept. Of Pediatrics (genetics)
Lebanon, NH 03756
Last Updated: 09/26/2026
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Found 16 publications
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 25, 2023
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
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 31, 2019
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 10, 2018
Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors.
Journal: European journal of medical genetics
Published: December 21, 2017
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
Journal: American journal of medical genetics. Part A
Published: March 11, 2015
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
Journal: Human molecular genetics
Published: October 28, 2014
Comprehensive evaluation of the child with intellectual disability or global developmental delays.
Journal: Pediatrics
Published: August 27, 2014
The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.
Journal: Molecular genetics and metabolism
Published: November 27, 2013
6q22.1 microdeletion and susceptibility to pediatric epilepsy.
Journal: European journal of human genetics : EJHG
Published: October 09, 2013
Geospatial association between adverse birth outcomes and arsenic in groundwater in New Hampshire, USA.
Journal: Environmental geochemistry and health
Published: July 11, 2013
Mapping disease at an approximated individual level using aggregate data: a case study of mapping New Hampshire birth defects.
Journal: International journal of environmental research and public health
Published: July 10, 2013
Last Updated: 09/26/2026