Thomas E. Mullen

Medical Genetics

65 Landsdowne St
Laboratory For Molecular Medicine
Cambridge, MA 02139

Last Updated: 09/26/2026

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Found 13 publications

Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.

Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.

Journal: American journal of medical genetics. Part A

Published: March 23, 2021

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.

Journal: JAMA pediatrics

Published: February 15, 2021

Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease.

Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease.

Journal: Kidney international reports

Published: March 16, 2020

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

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

Published: November 25, 2019

Infant mortality: the contribution of genetic disorders.

Infant mortality: the contribution of genetic disorders.

Journal: Journal of perinatology : official journal of the California Perinatal Association

Published: January 17, 2019

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Journal: Skeletal muscle

Published: April 25, 2018

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

Journal: Brain : a journal of neurology

Published: December 13, 2017

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.

Journal: American journal of human genetics

Published: March 27, 2017

Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome.

Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome.

Journal: European journal of human genetics : EJHG

Published: April 13, 2016

SnapShot-Seq: a method for extracting genome-wide, in vivo mRNA dynamics from a single total RNA sample.

SnapShot-Seq: a method for extracting genome-wide, in vivo mRNA dynamics from a single total RNA sample.

Journal: PloS one

Published: November 25, 2013

Characterization of bipolar disorder patient-specific induced pluripotent stem cells from a family reveals neurodevelopmental and mRNA expression abnormalities.

Characterization of bipolar disorder patient-specific induced pluripotent stem cells from a family reveals neurodevelopmental and mRNA expression abnormalities.

Journal: Molecular psychiatry

Published: November 18, 2013

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.

Journal: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases

Published: February 02, 2012

Showing 1-12 of 13

Last Updated: 09/26/2026