List of works - Jamal Ghoumid

A new lysosomal storage disorder resembling Morquio syndrome in sibs

scientific article published on 25 January 2012

Arterial tortuosity syndrome: 40 new families and literature review

scientific article

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

scientific article published on 27 September 2020

Biallelic variants in GLE1 with survival beyond neonatal period

scientific article published on 20 September 2020

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

scientific article

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.

scientific article published on 7 June 2017

Confirmation of risk of cancer in blepharocheilodontic syndrome

scientific article published on 02 June 2020

Correction: Arterial tortuosity syndrome: 40 new families and literature review

scientific article published on 01 August 2019

Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

scientific article published on 01 March 2020

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

scientific article published on 26 September 2020

Difficulties adapting to Nail-Patella syndrome: A qualitative study of patients' perspectives

scientific article published on 16 July 2019

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

scientific article

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

scientific article published in 2022

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

scientific article published on 11 April 2020

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

scientific article published on 05 October 2018

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

scientific article published on 14 December 2018

Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome

article

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

scientific article published on 31 July 2019

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

scientific article published on 10 September 2015

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome

scientific article published on 19 February 2013

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

scientific article published on 07 October 2020

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

scientific article published on 6 March 2018

Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

scientific article published on 12 November 2019

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.

scientific article published on 4 December 2017

Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations

scientific article published on 23 September 2019

Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.

scientific article published on 22 April 2015

Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication

scientific article published on 10 December 2019

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

scientific article published on 03 May 2021

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

article

Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study

scientific article published on 22 October 2019

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder

scientific article published on 25 September 2020

Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy

scientific article published on 01 February 2009

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia

scientific article published on 07 March 2019

Smith-Magenis syndrome (SMS): clinical and behavioral characteristics in a large retrospective cohort

scientific article published on 27 December 2020

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

scientific article published on 30 March 2020

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

scientific article published on 07 August 2019

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome

scientific article published on 5 March 2013

List of works by Jamal Ghoumid

A new lysosomal storage disorder resembling Morquio syndrome in sibs

Arterial tortuosity syndrome: 40 new families and literature review

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

Biallelic variants in GLE1 with survival beyond neonatal period

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.

Confirmation of risk of cancer in blepharocheilodontic syndrome

Correction: Arterial tortuosity syndrome: 40 new families and literature review

Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Difficulties adapting to Nail-Patella syndrome: A qualitative study of patients' perspectives

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.

Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations

Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.

Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder

Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia

Smith-Magenis syndrome (SMS): clinical and behavioral characteristics in a large retrospective cohort

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome