C. Quélin

发表

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

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.

N. Boddaert, A. Toutain, N. Philip, 2009, Archives of neurology.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.

Y. Ville, D. Lev, N. Boddaert, 2018, European journal of medical genetics.

Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant

W. Carré, C. Dubourg, C. Quélin, 2022, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

P. Derambure, P. Fergelot, S. Rheims, 2021, Orphanet Journal of Rare Diseases.

New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases

I. Gicquel, N. Garcelon, L. Pasquier, 2011, Journal of Medical Genetics.

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

W. Carré, C. Mouden, H. Hamdi-Rozé, 2016, Clinical genetics.

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

A. Laquérriere, M. Gonzalès, J. Chelly, 2016, European journal of medical genetics.

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders

W. Carré, H. Hamdi-Rozé, L. Pasquier, 2019, Human Genetics.

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

M. Ruberg, F. Rivier, C. Depienne, 2009, PLoS Genetics.

Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis

I. Gicquel, A. Laquérriere, L. Pasquier, 2013, Molecular Syndromology.

Karyotype is not dead (yet)!

L. Pasquier, E. Colin, M. Fradin, 2016, European journal of medical genetics.

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

M. Ruberg, F. Rivier, C. Depienne, 2009, PLoS 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.

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis

L. Pasquier, M. Fradin, T. Attié-Bitach, 2018, American journal of medical genetics. Part A.

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome

D. Montanaro, R. Borgatti, F. Zara, 2020, Neurology.

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

Y. Ville, A. Laquérriere, A. Verloes, 2012, European 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.

Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

S. Rossi, L. Defebvre, M. Vidailhet, 2014, Neurology.

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.

Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.

L. Pasquier, M. Fradin, S. Odent, 2022, European journal of medical genetics.

Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype–phenotype correlation

A. Verloes, L. Pasquier, P. Marcorelles, 2014, American journal of medical genetics. Part A.

New insights into genotype–phenotype correlation for GLI3 mutations

A. Munnich, A. Mégarbané, A. Afenjar, 2014, European Journal of Human Genetics.

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

A. Toutain, P. Calvas, N. Chassaing, 2014, Clinical genetics.

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.

D. Lacombe, L. Pasquier, L. Loeuillet, 2009, European journal of medical genetics.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

A. Munnich, C. Fallet-Bianco, I. Gut, 2021, Journal of Medical 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.

Severe Phenotype in Patients with Large Deletions of NF1

S. Julia, E. Pasmant, A. Sabbagh, 2021, Cancers.

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

E. Haan, S. Mansour, D. Vidaud, 2021, European Journal of Human Genetics.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

C. Depienne, A. Afenjar, D. Cohen, 2018, Clinical genetics.

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

S. Scherer, N. Brown, R. Yuen, 2019, Brain : a journal of neurology.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, npj Genomic Medicine.

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, bioRxiv.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, npj Genomic Medicine.

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

C. Fallet-Bianco, Y. Ville, B. Gilbert-Dussardier, 2012, Journal of Medical Genetics.

Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion.

L. Pasquier, S. Odent, C. Dubourg, 2014, European journal of medical 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.

Fetal cerebral hemorrhage due to X‐linked GATA1 gene mutation

L. D. Da Costa, M. Senat, F. Encha-Razavi, 2018, Prenatal diagnosis.

Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.

H. Cavé, L. Pasquier, M. Fradin, 2017, European journal of medical genetics.

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders

W. Carré, H. Hamdi-Rozé, L. Pasquier, 2019, Human Genetics.

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

J. Rivière, A. Boland, J. Deleuze, 2021, Genetics in Medicine.

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

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

A. Reymond, R. Myers, G. Cooper, 2022, American journal of human genetics.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

Osteopathia striata with cranial sclerosis: when a fetal malformation syndrome reveals maternal pathology

M. Fradin, C. Treguier, S. Odent, 2015, Prenatal diagnosis.

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.

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

C. Rooryck, L. Pasquier, E. Colin, 2023, Frontiers in Genetics.

Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.

L. Pasquier, M. Fradin, S. Odent, 2023, European journal of medical genetics.

Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis.

N. Boddaert, J. Chelly, I. Desguerre, 2012, European journal of medical genetics.

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

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

Mosaic DCX deletion causes subcortical band heterotopia in males

N. Boddaert, L. Vercueil, J. Chelly, 2012, neurogenetics.

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

A. Fortuna, K. Sermon, A. Jansen, 2022, American journal of 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.

Clinical delineation of SETBP1 haploinsufficiency disorder

B. V. van Bon, R. Bernier, S. Fisher, 2021, European Journal of Human Genetics.

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients

A. Afenjar, V. Cormier-Daire, J. Amiel, 2022, Orphanet Journal of Rare Diseases.

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

S. Julia, C. Rooryck, F. Vialard, 2023, Prenatal diagnosis.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, NPJ Genomic Medicine.

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

Antonarakis, Noskova, Meadows, 2022, medRxiv.

Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

J. Rivière, A. Boland, J. Deleuze, 2021, Genetics in Medicine.

ATP7A mutation with occipital horns and distal motor Neuropathy: a continuum.

G. Edan, L. Pasquier, P. Sauleau, 2020, European journal of medical genetics.

Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome

K. Kosaki, T. Takenouchi, C. Quélin, 2023, HGG advances.

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.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

W. Carré, C. Mouden, V. Dupé, 2016, Clinical genetics.

S. Mazoyer, L. Pasquier, G. Lesca, 2023, European Journal of Medical Genetics.

M. Barat‐Houari, A. Delahaye-Duriez, B. Sadikovic, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients

S. Julia, A. Afenjar, F. Lecoquierre, 2024, Journal of medical genetics.