Jennifer Hague

Northampton, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 11 publications

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 07, 2023

Small-Cell Carcinoma of the Ovary, Hypercalcemic Type-Genetics, New Treatment Targets, and Current Management Guidelines.

Small-Cell Carcinoma of the Ovary, Hypercalcemic Type-Genetics, New Treatment Targets, and Current Management Guidelines.

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research
Published: November 25, 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

Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant.

Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: March 21, 2019

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.

Journal: Annals of neurology
Published: March 06, 2018

Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD).

Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD).

Journal: Endocrinology, diabetes & metabolism case reports
Published: December 12, 2017

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Journal: Human mutation
Published: August 22, 2017

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

Journal: American journal of medical genetics. Part A
Published: December 09, 2016

Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrent HRAS mutation p.Gly12Ser.

Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrent HRAS mutation p.Gly12Ser.

Journal: Prenatal diagnosis
Published: December 01, 2016

Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia.

Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia.

Journal: The Journal of cell biology
Published: September 07, 2016

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.

Journal: American journal of medical genetics. Part A
Published: October 15, 2015
Showing 1-11 of 11

Last Updated: 09/26/2026