Pierre Sarda

Montpellier, France

Last Updated: 09/26/2026

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Found 36 publications

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Journal: Journal of intellectual disability research : JIDR

Published: October 31, 2019

Growth charts in Kabuki syndrome 1.

Growth charts in Kabuki syndrome 1.

Journal: American journal of medical genetics. Part A

Published: September 11, 2019

Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France.

Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France.

Journal: American journal of medical genetics. Part A

Published: April 04, 2019

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

Journal: The British journal of dermatology

Published: October 27, 2018

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

Journal: The British journal of dermatology

Published: July 22, 2018

Further delineation of Malan syndrome.

Further delineation of Malan syndrome.

Journal: Human mutation

Published: March 28, 2018

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.

Journal: American journal of medical genetics. Part A

Published: March 05, 2018

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.

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

Published: January 21, 2018

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

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

Published: July 21, 2017

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.

Journal: Journal of medical genetics

Published: July 17, 2017

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.

Journal: Brain : a journal of neurology

Published: November 03, 2016

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.

Journal: Human mutation

Published: April 13, 2016

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Last Updated: 09/26/2026