S. El Chehadeh

发表

Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5‐related disease

S. Julia, J. Thevenon, C. Philippe, 2017, Clinical genetics.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

W. Reardon, R. Touraine, A. Afenjar, 2017, Clinical genetics.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

S. Julia, R. Touraine, A. Afenjar, 2016, American journal of medical genetics. Part A.

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

A. Munnich, D. Lacombe, F. Giuliano, 2020, European Journal of Human Genetics.

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

A. Afenjar, N. Philip, A. Verloes, 2010, Journal of Medical Genetics.

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

J. Thevenon, L. Faivre, C. Philippe, 2021, Molecular genetics and metabolism reports.

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

I. Scheffer, H. Mefford, A. Munnich, 2019, Human mutation.

A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.

H. Dollfus, N. Calmels, D. Astruc, 2020, European journal of medical genetics.

The pituitary stalk interruption syndrome: endocrine features and benefits of growth hormone therapy.

F. Huet, S. El Chehadeh, C. Bensignor, 2010, Annales d'endocrinologie.

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

J. Mandel, B. Gilbert-Dussardier, J. Thevenon, 2017, European Journal of Human Genetics.

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

P. Laurent-Puig, J. Duffour, J. Saurin, 2015, European Journal of Human Genetics.

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

R. Petralia, E. Guedj, J. Thevenon, 2015, European Journal of Human Genetics.

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

J. Gécz, A. Bayat, J. Wynn, 2022, Nature Communications.

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

P. Lockhart, S. Kapoor, J. Milunsky, 2019, Journal of Human Genetics.

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

J. Mandel, A. Verloes, A. Boland, 2018, European Journal of Human Genetics.

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

R. Pfundt, C. Creuzot-Garcher, P. Calvas, 2016, European Journal of Human Genetics.

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

S. Julia, R. Touraine, A. Toutain, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features

D. Lipsker, J. Mandel, A. Weingertner, 2016, Prenatal diagnosis.

Molecular and clinical descriptions of patients with GABAA receptor gene variants ( GABRA1, GABRB2, GABRB3, GABRG2 ): A cohort study, review of literature, and genotype–phenotype correlation

R. Nabbout, D. Ville, B. Desnous, 2022, Epilepsia.

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

B. Menten, Z. Tümer, J. Thevenon, 2013, Journal of Medical Genetics.

Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

R. Touraine, N. Chassaing, P. Jouk, 2020, Human mutation.

Diagnostic prénatal de syndrome de Prader-Willi par CGH-Array : à propos d’un cas

B. Langer, S. El Chehadeh, B. Viville, 2018, Gynécologie Obstétrique Fertilité & Sénologie .

Benign hereditary chorea: From benign to serious.

J. Chelly, M. Anheim, V. Laugel, 2020, Revue neurologique (Paris).

The different clinical facets of SYN1-related neurodevelopmental disorders

F. Benfenati, P. Striano, L. Mazzola, 2022, Frontiers in Cell and Developmental Biology.

Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype

D. Lipsker, X. Jeunemaître, M. Manière, 2021, Clinical genetics.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

A. Toutain, J. Rivière, J. Thevenon, 2014, American journal of human genetics.

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

S. Julia, J. Rivière, A. Verloes, 2018, Journal of Medical Genetics.

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

W. Chung, A. Munnich, B. Menten, 2021, Human Genetics.

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2015, Molecular Cytogenetics.

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

J. Thevenon, L. Faivre, P. Jonveaux, 2015, JIMD reports.

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

V. Dulieu, P. Jouk, C. Rooryck, 2015, European Journal of Human Genetics.

Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

J. Melki, J. Rivière, J. Thevenon, 2017, American journal of medical genetics. Part A.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

P. Striano, S. Bianca, J. Goraya, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

A. Boland, J. Deleuze, E. Colin, 2023, Frontiers in Cell and Developmental Biology.

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

J. Mandel, A. Verloes, A. Boland, 2018, European Journal of Human Genetics.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

J. Thevenon, L. Faivre, S. Blesson, 2022, European Journal of Human Genetics.

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

R. Touraine, J. Mandel, J. Thevenon, 2020, Journal of Medical Genetics.

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

I. Scheffer, H. Mefford, A. Munnich, 2020, Epilepsia.

Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature

R. Favre, J. Chelly, N. Calmels, 2020, American journal of medical genetics. Part A.

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

Golder N Wilson, Carol J. Saunders, J. Rosenfeld, 2022, Molecular Psychiatry.

Severe X‐linked chondrodysplasia punctata in nine new female fetuses

A. Toutain, J. Rivière, M. Gonzalès, 2015, Prenatal diagnosis.

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2015, Molecular Cytogenetics.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

B. O’Roak, A. Munnich, G. Jondeau, 2020, Journal of Medical Genetics.

Expanding the clinical phenotype of patients with a ZDHHC9 mutation

J. Thevenon, V. Kalscheuer, L. Faivre, 2014, American Journal of Medical Genetics. Part A.

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

A. Toutain, N. Philip, P. Jouk, 2023, BMC Health Services Research.

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

J. Hurst, A. Clarke, M. Greenslade, 2017, European Journal of Human Genetics.

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

R. Hofstra, J. Christodoulou, C. Bole-Feysot, 2020, American journal of human genetics.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

Expanding the phenotypic spectrum of ARCN1-related syndrome.

H. Hakonarson, V. Shashi, B. Krock, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

A. Toutain, J. Rivière, J. Thevenon, 2014, American journal of human genetics.

Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France

C. Thauvin-Robinet, A. Bertaut, C. Cabrol, 2023, European Journal of Medical Genetics.

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

P. Verloo, D. Hemelsoet, M. Taquet, 2023, Nature Genetics.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

C. Depienne, O. Guillin, A. Afenjar, 2023, European journal of human genetics : EJHG.

Growth charts in DYRK1A syndrome

A. Afenjar, A. Bayat, L. Pasquier, 2023, American journal of medical genetics. Part A.