Melissa M. Lees

Great Ormond Street Hospital NHS Foundation Trust
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 43 publications

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Journal: Nature communications

Published: October 31, 2022

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.

Journal: Genome medicine

Published: February 02, 2022

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

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

Published: January 30, 2022

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

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

Published: March 05, 2021

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

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

Published: August 21, 2020

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

Journal: American journal of human genetics

Published: July 01, 2020

Familial Absent Uvula With Velopharyngeal Incompetence-A New Syndrome?

Familial Absent Uvula With Velopharyngeal Incompetence-A New Syndrome?

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: October 15, 2019

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

Journal: American journal of medical genetics. Part A

Published: July 19, 2019

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: June 11, 2019

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Journal: American journal of human genetics

Published: May 24, 2019

Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.

Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.

Journal: American journal of medical genetics. Part A

Published: April 03, 2019

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Journal: Genome medicine

Published: March 15, 2019

Showing 1-12 of 43

Last Updated: 09/26/2026