Joelle Roume

CHI Poissy St Germain En Laye
Poissy, France

Last Updated: 09/26/2026

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Found 35 publications

The risk of nephrotic range proteinuria and kidney failure in primary laminopathies is genotype-specific.

The risk of nephrotic range proteinuria and kidney failure in primary laminopathies is genotype-specific.

Journal: JCI insight

Published: July 16, 2026

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Journal: American journal of human genetics

Published: July 22, 2024

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Journal: Human molecular genetics

Published: July 27, 2023

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Journal: American journal of medical genetics. Part A

Published: April 30, 2021

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.

Journal: Clinical genetics

Published: September 18, 2020

Growth charts in Kabuki syndrome 1.

Growth charts in Kabuki syndrome 1.

Journal: American journal of medical genetics. Part A

Published: September 11, 2019

Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

Journal: American journal of medical genetics. Part A

Published: October 26, 2018

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

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

Published: October 04, 2018

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Journal: Human molecular genetics

Published: August 06, 2018

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.

Journal: Brain : a journal of neurology

Published: June 12, 2018

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

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

Published: April 17, 2018

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

Journal: Human genetics

Published: November 22, 2017

Showing 1-12 of 35

Last Updated: 09/26/2026