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NHERF1 Mutations and Responsiveness of Renal Parathyroid Hormone

The New England journal of medicine, 2008-09, Vol.359 (11), p.1128-1135

2008

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Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

American journal of human genetics, 2017-09, Vol.101 (3), p.428-440

2017

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Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

European journal of human genetics : EJHG, 2018-07, Vol.26 (7), p.996-1006

2018

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PTHR1 mutations associated with Ollier disease result in receptor loss of function

Human molecular genetics, 2008-09, Vol.17 (18), p.2766-2775

2008

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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

American journal of human genetics, 2016-03, Vol.98 (3), p.541-552

2016

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Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study

Frontiers in genetics, 2022-02, Vol.12, p.766964-766964

2022

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Molecular psychiatry, 2023-02, Vol.28 (2), p.668-697

2023

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Nephrolithiasis and Osteoporosis Associated with Hypophosphatemia Caused by Mutations in the Type 2a Sodium–Phosphate Cotransporter

The New England journal of medicine, 2002-09, Vol.347 (13), p.983-991

2002

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Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes

Journal of rheumatology, 2010-02, Vol.37 (2), p.401

2010

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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Genetics in medicine, 2021-11, Vol.23 (11), p.2150-2159

2021

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Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1803-1815

2021

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Penetrance, variable expressivity and monogenic neurodevelopmental disorders

European journal of medical genetics, 2024-06, Vol.69, p.104932-104932, Article 104932

2024

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A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome

Blood advances, 2022-09, Vol.6 (18), p.5279-5284

2022

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Human neutrophils produce interferon gamma upon stimulation by interleukin-12

Laboratory investigation, 2004-10, Vol.84 (10), p.1363-1371

2004

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The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol

Frontiers in genetics, 2022-04, Vol.13, p.852472-852472

2022

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Amniotic Fluid Digestive Enzyme Analysis Is Useful for Identifying CFTR Gene Mutations of Unclear Significance

Clinical chemistry (Baltimore, Md.), 2009-12, Vol.55 (12), p.2214-2217

2009

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L'évolution de la mixité sociale, enjeu du renouvellement urbain des grands ensembles d'habitation de l'agglomération strasbourgeoise

Géographie, économie, société, 2011-01, Vol.13 (1), p.69-92

Gerard, Bénédicte

2011

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Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease

Kidney international, 2010-02, Vol.77 (4), p.350-358

2010

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X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

Neurogenetics, 2021-03, Vol.22 (1), p.43-51

2021

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Association Between Endothelin Receptor B Nonsynonymous Variants and Melanoma Risk

JNCI : Journal of the National Cancer Institute, 2005-09, Vol.97 (17), p.1297-1301

2005

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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Journal of medical genetics, 2014-11, Vol.51 (11), p.724-736

2014

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Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1626-1629

2016

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NHERF1 Mutations and Responsiveness of Renal Parathyroid Hormone

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

PTHR1 mutations associated with Ollier disease result in receptor loss of function

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Nephrolithiasis and Osteoporosis Associated with Hypophosphatemia Caused by Mutations in the Type 2a Sodium–Phosphate Cotransporter

Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy

Penetrance, variable expressivity and monogenic neurodevelopmental disorders

A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome

Human neutrophils produce interferon gamma upon stimulation by interleukin-12

The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol

Amniotic Fluid Digestive Enzyme Analysis Is Useful for Identifying CFTR Gene Mutations of Unclear Significance

L'évolution de la mixité sociale, enjeu du renouvellement urbain des grands ensembles d'habitation de l'agglomération strasbourgeoise

Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

Association Between Endothelin Receptor B Nonsynonymous Variants and Melanoma Risk

Amelogenesis imperfecta : Next-generation sequencing sheds light on Witkop's classification

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism

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