Vani Jain

Cardiff Edge Business Park, Longwood Drive, Whitchurch
Cardiff, WLS CF147YU, United Kingdom

Last Updated: 09/26/2026

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Found 11 publications

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Journal: American journal of human genetics

Published: March 18, 2024

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

Genomic testing in neurology.

Genomic testing in neurology.

Journal: Practical neurology

Published: June 11, 2023

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Journal: European journal of human genetics : EJHG

Published: February 06, 2023

A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants.

A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants.

Journal: Radiology case reports

Published: March 21, 2021

Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.

Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.

Journal: European journal of human genetics : EJHG

Published: March 10, 2021

Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation.

Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation.

Journal: Journal of medical genetics

Published: February 08, 2021

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 Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

Journal: Human mutation

Published: October 13, 2015

Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family.

Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family.

Journal: Clinical kidney journal

Published: August 24, 2013

Cerebral cavernous malformation: clinical report of two families with variable phenotype associated with KRIT1 mutation.

Cerebral cavernous malformation: clinical report of two families with variable phenotype associated with KRIT1 mutation.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: March 21, 2013

Showing 1-11 of 11

Last Updated: 09/26/2026