Author details

Full Name

Claire Beneteau

Affiliation

Hopital Universitaire de Nantes

ORCID

Career Start Year

2005

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36385166	Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.	Mol Psychiatry	2023
37695410	Androgenetic/biparental mosaicism in a diploid mole-like conceptus: report of a case with triple paternal contribution.	Virchows Arch	2023
37979581	Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.	Am J Hum Genet	2023
35393335	Overlapping cortical malformations in patients with pathogenic variants in <i>GRIN1</i> and <i>GRIN2B</i>.	J Med Genet	2023
37292616	Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.	medRxiv	2023
37121269	NOTCH2 related disorders: Description and review of the fetal presentation.	Eur J Med Genet	2023
36453701	Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.	Clin Genet	2023
36196855	Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.	Am J Med Genet A	2023
34894355	Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.	Prenat Diagn	2022
35470444	Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.	Clin Genet	2022
35872606	Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.	Am J Med Genet C Semin Med Genet	2022
35904974	Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.	Am J Med Genet A	2022
36135330	Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.	Am J Med Genet A	2022
36099812	Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.	EBioMedicine	2022
36031591	A Gardos channelopathy associated with nonimmune hydrops and fetal loss.	Clin Genet	2022
33820833	Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.	J Med Genet	2022
35005812	Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.	Hum Mutat	2022
32086974	Prenatal diagnosis of congenital dislocated spine and complex heterotaxy syndrome with 3D ultrasound and helical computed tomography.	Ultrasound Obstet Gynecol	2021
34818214	Intragenic Deletion of the ZMYND11 Gene in 10p15.3 is Associated with Developmental Delay Phenotype: A Case Report.	Cytogenet Genome Res	2021
34132911	Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.	Neurogenetics	2021
34212369	The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.	Clin Genet	2021
32565546	Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.	Genet Med	2020
32058622	Exome sequencing identifies the first genetic determinants of sirenomelia in humans.	Hum Mutat	2020
33131162	Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.	Hum Mutat	2020
32633079	12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.	Am J Med Genet A	2020
30639323	Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.	Am J Hum Genet	2019
31865337	Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.	Cytogenet Genome Res	2019
30190612	Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.	Genet Med	2019
31285849	Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.	NPJ Genom Med	2019
30896039	Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.	Prenat Diagn	2019
31172545	Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.	Prenat Diagn	2019
30655378	Clinical and biological features in <i>PIEZO1</i>-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.	Haematologica	2019
30508070	Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.	Brain	2019
29027723	Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study.	Ultrasound Obstet Gynecol	2018
30135486	New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-HÃ¼nermann-Happle Syndrome.	Eur J Hum Genet	2018
29977062	Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.	Nature	2018
30633605	Placental Pathology in Beckwith-Wiedemann Syndrome According to Genotype/Epigenotype Subgroups.	Fetal Pediatr Pathol	2018
29673682	Dehydrated hereditary stomatocytosis: Prenatal management of ascites and pleural effusions.	Taiwan J Obstet Gynecol	2018
29769720	RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.	Nature	2018
27782105	Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.	Eur J Hum Genet	2017
28969387	WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.	Brain	2017
29263841	A framework to identify contributing genes in patients with Phelan-McDermid syndrome.	NPJ Genom Med	2017
28612834	Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?	Eur J Hum Genet	2017
27545656	[Congenital deformities of the hand and upper limb].	Ann Chir Plast Esthet	2016
27297286	Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.	Prenat Diagn	2016
25118001	Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.	Prenat Diagn	2015
26542939	[Beckwith-Wiedemann syndrome: What do you search in prenatal diagnosis? About 14 cases].	Gynecol Obstet Fertil	2015
23581886	Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops.	Clin Genet	2014
24319099	Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.	Hum Mol Genet	2014
24395195	A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes.	Prenat Diagn	2014

1 - 50 of 61

Luisa Mackenroth

Institut fur Klinische Genetik, Technische Universitat Dresden

Career Start Year 2012

Number of shared co-authors 2

Jair Tenorio

Institute of Medical and Molecular Genetics, Hospital University La Paz

Career Start Year 2012

Number of shared co-authors 11

Hatip Aydin

Zeynep Kamil Maternity and Children's Training and Research Hospital

Career Start Year 2010

Number of shared co-authors 7

Harry Pachajoa

Universidad Icesi

Career Start Year 2009

Number of shared co-authors 9

Rasim O Rosti

University of Virginia

Career Start Year 2008

Number of shared co-authors 2

Ahmet Okay Caglayan

Yale School of Medicine

Career Start Year 2007

Number of shared co-authors 1

Charu Deshpande

Guy's Hospital

Career Start Year 2006

Number of shared co-authors 12

Eva Klopocki

Institute for Human Genetics, University of Wurzburg

Career Start Year 2004

Number of shared co-authors 3

Dragana Josifova

Guy's and St Thomas' Hospital

Career Start Year 2000

Number of shared co-authors 9

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 3

Vernon R Sutton

Baylor College of Medicine

Career Start Year 1997

Number of shared co-authors 11

Ariana Kariminejad

Clinical Genetics Deaprtment

Career Start Year 1996

Number of shared co-authors 7

Luitgard Graul-Neumann

Charite Universitaetsmedizin Berlin

Career Start Year 1996

Number of shared co-authors 11

Ian D Krantz

Children's Hospital of Philadelphia

Career Start Year 1996

Number of shared co-authors 15

Nicole de Leeuw

Radboud University Medical Center

Career Start Year 1996

Number of shared co-authors 15

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 20

Theresa A Grebe

Phoenix Children's Hospital

Career Start Year 1992

Number of shared co-authors 9

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 10

Helen V Firth

Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals

Career Start Year 1990

Number of shared co-authors 21

Beyhan T??ys??z

Istanbul University-Cerrahpasa

Career Start Year 1989

Number of shared co-authors 10

Sally Ann Lynch

University College Dublin

Career Start Year 1989

Number of shared co-authors 17

Isabel K Temple

University of Southampton

Career Start Year 1988

Number of shared co-authors 12

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Career Start Year 1988

Number of shared co-authors 18

Jane A Hurst

Great Ormond Street Hospital NHS Foundation Trust

Career Start Year 1987

Number of shared co-authors 12

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 25

Carol L Clericuzio

University of New Mexico Health Sciences Center

Career Start Year 1986

Number of shared co-authors 7

Sahar Mansour

St George's University Hospitals NHS Foundation Trust

Career Start Year 1985

Number of shared co-authors 9

David R FitzPatrick

Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit

Career Start Year 1984

Number of shared co-authors 20

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Career Start Year 1981

Number of shared co-authors 19

Elaine H Zackai

Children's Hospital of Philadelphia

Career Start Year 1972

Number of shared co-authors 22

row(s) 1 - 30 of 30

Santhosh Girirajan

The Huck Institutes of Life Sciences, University Park, Pennsylvania State University

Co-authored papers 3

Emanuela Avola

Oasi Research Institute-IRCCS

Co-authored papers 3

Charles E Schwartz

Co-authored papers 2

Ivo Gut

Spain Universitat de Barcelona (UB)

Co-authored papers 2

Francesca Mari

Institute de Pathologie et de Genetique ASBL

Co-authored papers 2

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Co-authored papers 2

Alessandra Renieri

University of Siena

Co-authored papers 2

H??lya Kayserili

Istanbul University

Co-authored papers 2

Giovanni Battista Ferrero

Co-authored papers 2

Matias Simons

Institute of Human Genetics, University Hospital Heidelberg

Co-authored papers 1

Monica C Munoz-Torres

University of Colorado Anschutz Medical Campus

Co-authored papers 1

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 1

Soo-Mi Park

Cambridge University Hospital, NHS Foundation Trust

Co-authored papers 1

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 1

Maria Cristina Digilio

Co-authored papers 1

Arjun Krishnan

Michigan State University

Co-authored papers 1