C. Coubes

发表

Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease

V. Tardy, Y. Morel, L. Michel-Calemard, 2009, Clinical genetics.

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

P. Calvas, N. Chassaing, M. Holder-Espinasse, 2013, American journal of medical genetics. Part A.

Ethan M. Goldberg, A. Munnich, E. Goldberg, 2018, Genetics in Medicine.

Myotonic dystrophy type 1 and PGD: ovarian stimulation response and correlation analysis between ovarian reserve and genotype.

S. Hamamah, C. Coubes, C. Castelli, 2010, Reproductive biomedicine online.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

J. Melki, S. Julia, R. Touraine, 2015, European Journal of Human Genetics.

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)

E. Hoppenreijs, V. Costes, I. Touitou, 2016, Annals of the rheumatic diseases.

Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder

L. Cuisset, B. Cogné, C. Thauvin-Robinet, 2021, Human mutation.

Prader‐Willi syndrome: is there a recognizable fetal phenotype?

G. Lefort, J. Puechberty, C. Coubes, 2008, Prenatal diagnosis.

A. Afenjar, T. Roscioli, A. Verloes, 2018, neurogenetics.

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

B. Drénou, S. Coutant, N. Elçioglu, 2021, Journal of Medical Genetics.

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Julie C. Sapp, L. Biesecker, Julie Harris, 2018, Genetics in Medicine.

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

V. Fraix, L. Kremer, M. Koenig, 2021, Genetics in Medicine.

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

A. Destée, F. Rousset, Y. Agid, 2008, Neurogenetics.

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene

F. Rivier, M. Claustres, S. Tuffery-Giraud, 2012, European Journal of Human Genetics.

Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective

M. Barat‐Houari, T. Guignard, G. Cambonie, 2022, European 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.

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

R. Weksberg, N. Drouot, Y. Hérault, 2021, Genetics in Medicine.

Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10‐year experience

M. Claustres, S. Hamamah, C. Coubes, 2015, Clinical genetics.

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

N. Philip, Y. Duffourd, L. Villard, 2017, European Journal of Human Genetics.

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

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

B. Ng, S. Sati, T. Guignard, 2019, BMC Medical Genomics.

Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders

N. Chassaing, T. Lavabre‐Bertrand, G. Rolland, 2021, European Journal of Human Genetics.

HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

C. Cytrynbaum, R. Weksberg, J. Graham, 2019, American journal of medical genetics. Part A.

heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt : A study to clarify the HIST 1 H 1 E syndrome phenotype in 30 individuals

C. Cytrynbaum, R. Weksberg, J. Graham, 2019 .

Protein truncation test: Analysis of two novel point mutations at the carboxy‐terminus of the human dystrophin gene associated with mental retardation

M. Claustres, J. Demaille, S. Tuffery, 1995, Human mutation.

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

R. Touraine, A. Toutain, N. Chassaing, 2021, Clinical genetics.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

A. Afenjar, A. Verloes, C. Yardin, 2022, American journal of medical genetics. Part A.

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

H. Cavé, N. Philip, C. Chiaverini, 2019, The British journal of dermatology.

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

A. O’Donnell-Luria, N. Chassaing, C. Schaaf, 2021, Journal of Medical Genetics.

Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions

F. Michon, C. Coubes, M. Willems, 2022, Investigative ophthalmology & visual science.

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

H. Cavé, N. Philip, C. Chiaverini, 2018, The British journal of dermatology.

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

N. Katsanis, P. Calvas, N. Chassaing, 2016, Genome research.

Specific detection of deleted and non-deleted dystrophin exons together with gender assignment in preimplantation genetic diagnosis of Duchenne muscular dystrophy.

M. Claustres, J. Demaille, S. Hamamah, 2003, Molecular human reproduction.

Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder

B. Ng, A. Baghdadli, J. Puechberty, 2015, American journal of medical genetics. Part A.

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.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Joshua L. Deignan, T. Bourgeron, R. Delorme, 2019, American journal of human genetics.

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

F. Lecoquierre, L. Faivre, C. Philippe, 2019, Genetics in Medicine.

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

A. Toutain, N. Chassaing, W. Carré, 2016, Human mutation.

Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome

A. Afenjar, C. Schaaf, U. Grasshoff, 2022, American journal of medical genetics. Part A.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

R. Touraine, A. Afenjar, A. Toutain, 2019, Journal of Medical Genetics.

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Jean-François Taly, J. Thevenon, B. Cogné, 2021, Journal of Medical Genetics.

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

N. Philip, Y. Duffourd, L. Villard, 2017, European Journal of Human Genetics.

Kelly A. Mills, Elizabeth L. Fieg, M. Hallett, 2020, Brain : a journal of neurology.

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome

A. Afenjar, V. Drouin‐Garraud, T. Frebourg, 2007, Human mutation.

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test

B. Echenne, M. Claustres, C. Bareil, 1998, Human Genetics.

Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations

A. Afenjar, A. Toutain, B. Cogné, 2020, Clinical genetics.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms

G. Lefort, J. Puechberty, C. Coubes, 2006, Prenatal diagnosis.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

R. Touraine, C. Chiaverini, J. Rivière, 2017, Genetics in Medicine.

Phenotypic spectrum associated with CASK loss-of-function mutations

Soma Das, R. Scott, E. Ortibus, 2011, Journal of Medical Genetics.

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

S. Kushner, F. Lecoquierre, J. Thevenon, 2020, Human Genetics.

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

S. Kushner, F. Lecoquierre, J. Thevenon, 2020, 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.

Mutations in ACTL 6 B cause neurodevelopmental deficits and epilepsy and lead to 1 loss of dendrites in human neurons 2 3

Anne, Fassi, Joshua L. Deignan, 2019 .

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

J. Melki, N. Philip, Salima El-Chehadeh, 2019, European Journal of Human Genetics.

Further delineation of Malan syndrome

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018, Human mutation.

delineation of Malan syndrome.

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018 .

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

J. Laplanche, S. Julia, A. Toutain, 2015, Genetics in Medicine.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

L. Feuk, B. V. van Bon, R. Pfundt, 2021, Genetics in Medicine.

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

D. Wieczorek, S. Mansour, A. Moore, 2013, European Journal of Human Genetics.

P. Meyer, C. Coubes, A. Roubertie, 2020, Annals of clinical and translational neurology.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

K. Hamacher, C. Mercer, P. Striano, 2018, Brain : a journal of neurology.

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

Y. Wada, E. Schaftingen, S. Mahmood, 2013, American journal of human genetics.

Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.

S. Küry, A. Boland, J. Deleuze, 2022, American journal of human genetics.

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

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

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2020, Journal of intellectual disability research : JIDR.

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

A. Munnich, J. Soulier, D. Lacombe, 2010, European Journal of Human Genetics.

Deep brain stimulation for Huntington's disease: long-term results of a prospective open-label study.

L. Cif, P. Coubes, T. Roujeau, 2014, Journal of neurosurgery.

Recurrent KIF2A mutations are responsible for classic lissencephaly

C. Bole-Feysot, J. Steffann, J. Pedespan, 2017, neurogenetics.

Deep brain stimulation in myoclonus–dystonia syndrome

S. Hemm, N. Vayssiere, L. Cif, 2004, Movement disorders : official journal of the Movement Disorder Society.

Dermatological and genetic data in tuberous sclerosis: A prospective single-center study of 38 patients.

C. Coubes, D. Bessis, A. Roubertie, 2022, Annales de dermatologie et de venereologie.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

J. Melki, A. Toutain, A. Verloes, 2021, Orphanet Journal of Rare Diseases.

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

L. Biesecker, Julie Harris, R. Loffroy, 2018, Genetics in Medicine.

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.

G. Captier, J. Rivière, M. Barat‐Houari, 2017, Genetics in Medicine.

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

C. Bole-Feysot, P. Nitschké, A. Gezdirici, 2017, Clinical genetics.

DNA methylation episignature in Gabriele-de Vries syndrome.

D. Misceo, W. Craigen, R. Louie, 2022, Genetics in Medicine.

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

J. Clayton-Smith, G. Jondeau, D. Bonneau, 2020, Human Genetics.

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.

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation

R. Wevers, S. Wortmann, E. Boltshauser, 2020, Genetics in Medicine.

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

B. Ng, S. Sati, T. Guignard, 2019, BMC Medical Genomics.

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

J. Thevenon, S. Mercier, L. Faivre, 2023, Frontiers in Genetics.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

A. Afenjar, A. Verloes, C. Yardin, 2022, American Journal of Medical Genetics Part A.

I. Scheffer, P. Striano, F. Alkuraya, 2023, European Journal of Human Genetics.

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

T. Kleefstra, F. Ramond, A. Riess, 2024, European journal of human genetics : EJHG.

Mental Retardation

J. Demaille, S. Tuffery, C. Coubes, 2005 .