Emma C. Kivuva

Exeter, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 17 publications

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

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

Published: July 11, 2025

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Journal: Genetics in medicine open

Published: November 14, 2023

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.

Journal: Nature communications

Published: July 31, 2023

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.

Journal: Nature communications

Published: July 28, 2023

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

Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders.

Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders.

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

Published: November 05, 2020

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.

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

Published: June 09, 2020

De novo variants in CNOT3 cause a variable neurodevelopmental disorder.

De novo variants in CNOT3 cause a variable neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: June 13, 2018

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.

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

Published: October 29, 2017

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Journal: Prenatal diagnosis

Published: September 28, 2017

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

Journal: American journal of human genetics

Published: August 20, 2017

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Journal: European journal of human genetics : EJHG

Published: March 12, 2017

Showing 1-12 of 17

Last Updated: 09/26/2026