Skip to Main Content

Author Details

Laure Raymond
Sorbonne Universite, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS
2013
30
10
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37844724Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype.Am J Kidney Dis2024
36897941Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.Sci Adv2023
37915912Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection.Clin Kidney J2023
37850010Diagnosis of Kidney Diseases of Unknown Etiology Through Biopsy-Genetic Analysis.Kidney Int Rep2023
37849999Role of the I416L Variant of Complement Factor I in Thrombotic Microangiopathy Among Patients of African Ancestry.Kidney Int Rep2023
37226891Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.Genet Med2023
36460032Exome data reanalysis solved case in undetermined nephropathy with detection of TULP3-truncating variant.Nephrol Dial Transplant2023
35172124Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.Am J Hum Genet2022
36938085Exome-First Strategy in Adult Patients With CKD: A Cohort Study.Kidney Int Rep2022
36137615Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.J Med Genet2022
35947615An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney disease.Proc Natl Acad Sci U S A2022
34983064Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.Brain2022
35311657Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.Genet Med2022
33268504Nephronophthisis in Young Adults Phenocopying Thrombotic Microangiopathy and Severe Nephrosclerosis.Clin J Am Soc Nephrol2021
35497799Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease.Kidney Int Rep2021
34556307The Case | Isolated microscopic hematuria: a diagnostic journey.Kidney Int2021
32439618Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features.Eur J Med Genet2020
33320216Exome Sequencing as Part of a Multidisciplinary Approach to Diagnosis.JAMA2020
31106873Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies".Prenat Diagn2019
29034544CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.Hum Mutat2018
30021525A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.BMC Med Genet2018
28694206Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature.Gene2017
28950892Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.Pediatr Rheumatol Online J2017
28832565Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.Eur J Hum Genet2017
27601211Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.Eur J Hum Genet2016
26386246Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts.Eur J Med Genet2015
24482476Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.Science2014
24319291KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.J Med Genet2014
23064044Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.Gene2013
24249776Entropy inequality and hydrodynamic limits for the Boltzmann equation.Philos Trans A Math Phys Eng Sci2013
  • 1 - 30 of 30

Recommended Authors

Hui-Lin Chin
Yong Loo Lin School of Medicine, National University of Singapore
Career Start Year 2015
Number of shared co-authors 0
Eleanor G Seaby
University of Southampton
Career Start Year 2014
Number of shared co-authors 4
Mathieu Quinodoz
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Career Start Year 2014
Number of shared co-authors 1
Jair Tenorio
Institute of Medical and Molecular Genetics, Hospital University La Paz
Career Start Year 2012
Number of shared co-authors 2
Saumya Shekhar Jamuar
Pediatric Academic Clinical Programme, Duke-NUS Medical School
Career Start Year 2010
Number of shared co-authors 1
Shagun Aggarwal
Nizam's Institute of Medical Sciences
Career Start Year 2010
Number of shared co-authors 0
Francesca Clementina Radio
Ospedale Pediatrico Bambino Gesu IRCCS
Career Start Year 2009
Number of shared co-authors 3
Christian Gilissen
Radboud University Medical Center
Career Start Year 2009
Number of shared co-authors 9
Angela Del Pozo
Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz
Career Start Year 2008
Number of shared co-authors 0
Yiran Guo
Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
Career Start Year 2007
Number of shared co-authors 3
Emma L Baple
University of Exeter Medical School, Royal Devon & Exeter Hospital
Career Start Year 2007
Number of shared co-authors 7
Shalini N Jhangiani
Baylor College of Medicine
Career Start Year 2007
Number of shared co-authors 9
Nara Sobreira
Johns Hopkins University
Career Start Year 2006
Number of shared co-authors 7
Julie Richer
University of Ottawa, Canada Children's Hospital of Eastern Ontario
Career Start Year 2005
Number of shared co-authors 0
Katherine R Smith
Walter and Eliza Hall Institute of Medical Research
Career Start Year 2005
Number of shared co-authors 4
Jennifer E Posey
Baylor College of Medicine
Career Start Year 2004
Number of shared co-authors 8
Marketa Vlckova
Motol University Hospital and Second Faculty of Medicine, Charles University
Career Start Year 2003
Number of shared co-authors 0
Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Career Start Year 2001
Number of shared co-authors 22
Tony Roscioli
Prince of Wales Hospital
Career Start Year 2000
Number of shared co-authors 7
Francesca Mari
Institute de Pathologie et de Genetique ASBL
Career Start Year 2000
Number of shared co-authors 4
Jenny C Taylor
University of Oxford
Career Start Year 1996
Number of shared co-authors 12
Kym M Boycott
Children's Hospital of Eastern Ontario
Career Start Year 1996
Number of shared co-authors 11
Juli??n Nevado
Institute of Medical and Molecular Genetics
Career Start Year 1993
Number of shared co-authors 3
Franco Stanzial
Genetic Counseling Service - Regional Hospital of Bolzano
Career Start Year 1993
Number of shared co-authors 14
Rafa?? P??oski
Medical University of Warsaw
Career Start Year 1992
Number of shared co-authors 2
Kenjiro Kosaki
Center for Medical Genetics, Keio University School of Medicine
Career Start Year 1991
Number of shared co-authors 2
Helen V Firth
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Career Start Year 1990
Number of shared co-authors 3
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Career Start Year 1987
Number of shared co-authors 9
Alessandra Renieri
University of Siena
Career Start Year 1984
Number of shared co-authors 7
Thomas Meitinger
Technical University of Munich, Institute of Human Genetics
Career Start Year 1982
Number of shared co-authors 12

Collaborators

Giovanni Stevanin
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 6
Alexis Brice
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 5
Alexandra Durr
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 5
Sylvie Forlani
ICM DNA and Cell Bank CNRS UMR7225, INSERM U1127, Sorbonne University
Co-authored papers 2
Ahmed Bouhouche
Medical School and Pharmacy, University Mohammed V in Rabat
Co-authored papers 2
Naima Bouslam
Specialties Hospital
Co-authored papers 2
Naiara Akizu
University of Pennsylvania
Co-authored papers 2
Ali Benomar
Medical School and Pharmacy, University Mohammed V in Rabat
Co-authored papers 2
Ahmet Okay Caglayan
Yale School of Medicine
Co-authored papers 1
Mahmoud Y Issa
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 1
Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 1
Jennifer L Silhavy
University of California
Co-authored papers 1
Faezeh Mojahedi
Blood Borne Infections Research Center, Academic Center for Education
Co-authored papers 1
Emily G Spencer
Scripps Research Translational Institute
Co-authored papers 1
Ghada M H Abdel-Salam
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 1
Charu Deshpande
Guy's Hospital
Co-authored papers 1
Asl??han Tolun
Istanbul Technical University
Co-authored papers 1
Denis Bertrand
Co-authored papers 1
Stacey Gabriel
Broad Institute of MIT and Harvard
Co-authored papers 1
Massimo Mascaro
Howard Hughes Medical Institute, University of California
Co-authored papers 1
Jumana Y Al-Aama
King AbdulAziz University
Co-authored papers 1
Siddharth Banka
University of Manchester
Co-authored papers 1
Mostafa Abdellateef
Center for Brain Development, University of California
Co-authored papers 1
Laila Selim
Cairo University
Co-authored papers 1
H??lya Kayserili
Istanbul University
Co-authored papers 1
Bita Bozorgmehri
Co-authored papers 1
Alice A Koh
Howard Hughes Medical Institute, University of California
Co-authored papers 1
Ali G Fenstermaker
Howard Hughes Medical Institute, University of California
Co-authored papers 1
Ariana Kariminejad
Clinical Genetics Deaprtment
Co-authored papers 1
Kaya Bilguvar
Acibadem Mehmet Ali Aydinlar University
Co-authored papers 1
Release 1.2