Concepedia
Author
Sophie Nambot
Also Known As
Alice Moussy, Anne-laure Pelletier, Antonio Vitobello, Aurelie Espitalier, Austin Miller, CAUSES Study, Hannah Musgrave, Lyse Ruand, Marc Bardou, Nambot, S.
108
Publications
1.6K
Citations
22
H-Index
64
Concepts
All Affiliations
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All Concepts
33
1.1K
20
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
Sophie Nambot, Julien Thévenon, Paul Kuentz, +22
Genetics in Medicine
Developmental AnomalyRare DiseasesMendelian DisorderGenetic DisorderMedicine +8
2017
193
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes
Lina Liang, Xia Li, Sébastien Moutton, +25
Human Molecular Genetics
GeneticsSynaptic TransmissionMolecular GeneticsNeurotransmissionDisease Gene Identification +29
2019
90
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
Ange‐Line Bruel, Sophie Nambot, Virginie Quéré, +7
European Journal of Human Genetics
EngineeringSingleton Exome SequencingMedicineGeneticsNext-generation Sequencing +9
Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion
Annie Ting Gee Chiu, Steven Lim Cho Pei, Christopher Chun Yu Mak, +19
Clinical Genetics
43
Implementation and use of whole exome sequencing for metastatic solid cancer
Manon Réda, Corentin Richard, Aurélie Bertaut, +22
EBioMedicine
Metastatic Solid CancerTumor HeterogeneityMedicineNext-generation SequencingWhole Exome Sequencing +10
2020
Further delineation of the female phenotype with <scp> <i>KDM5C</i> </scp> disease causing variants: 19 new individuals and review of the literature
Virginie Carmignac, Sophie Nambot, Daphné Lehalle, +28
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model
Antonio Vitobello, Benoît Mazel, Vera G. Lelianova, +37
The American Journal of Human Genetics
Neurodevelopmental DisordersKnockout MouseSynaptic PlasticityAdgrl1 HaploinsufficiencyDevelopmental Biology +10
2022
40
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder
Francesca Mattioli, Gaëlle Hayot, Nathalie Drouot, +25
Neurodevelopmental DisordersDevelopmental BiologyGeneticsNeuroscienceCommon C-terminal Extension +6
39
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
Aurélie Bourchany, Christel Thauvin‐Robinet, Daphné Lehalle, +28
European Journal of Medical Genetics
BioinformaticsLong-read SequencingGenetic TestingSequencingExome Sequencing +11
37
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
Ash Zawerton, Cyril Mignot, Ashley Sigafoos, +82
Neurodevelopmental DisordersDevelopmental BiologyBrain DevelopmentGenetic DisorderGenetics +7
35
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