Sophie Nambot - Dissemin

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All papers authored by Sophie Nambot

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2024 Eléonore Viora-Dupont

ORCID

, Françoise Robert, Aline Chassagne, Aurore Pélissier, Stéphanie Staraci, Damien Sanlaville, Patrick Edery, Gaetan Lesca

ORCID

, Audrey Putoux, Linda Pons, Amandine Cadenes, Amandine Baurand, Caroline Sawka, Geoffrey Bertolone, Myrtille Spetchian and 35 other authors

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

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2023 Thomas Husson

ORCID

, François Lecoquierre, Gaël Nicolas

ORCID

, Anne-Claire Richard, Alexandra Afenjar, Séverine Audebert-Bellanger, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie-Noëlle Bonnet-Dupeyron, Elise Brischoux-Boucher

ORCID

, Céline Bonnet

ORCID

, Marie Bournez

ORCID

, Odile Boute and 89 other authors

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

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Yue Jiao

ORCID

, Nancy Uhrhammer, Dominique Vaur

ORCID

, Laurence Venat, Thérèse Truong

ORCID

, Séverine Eon-Marchais, Noura Mebirouk

ORCID

, Sandrine M. Caputo

ORCID

, Marie-Gabrielle Dondon

ORCID

, Mojgan Karimi, Dorothée Le Gal, Dorothée Le Gal, Juana Beauvallet, Édith Le Floch, Édith Le Floch and 50 other authors

Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease

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2022 Emilie Tisserant, Antonio Vitobello

ORCID

, Davide Callegarin, Simon Verdez

ORCID

, Ange‐line Bruel

ORCID

, Ludwig Serge Aho Glele

ORCID

, Arthur Sorlin

ORCID

, Eleonore Viora‐Dupont

ORCID

, Marina Konyukh, Nathalie Marle

ORCID

, Sophie Nambot

ORCID

, Sébastien Moutton

ORCID

, Caroline Racine

ORCID

ORCID

, Julian Delanne

ORCID

and 12 other authors

Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH

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Clémentine Legrand, Marine Lebrun, Pierre Naïbo, Magalie Peysselon, Fabienne Prieur, Caroline Kientz, Françoise Desseigne, Sandrine Handallou

ORCID

, Jean-Marc Rey, Sophie Nambot

ORCID

, Vincent Goussot

ORCID

, Nadim Hamzaoui

ORCID

, Qing Wang

A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking Lynch syndrome

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2021 Memoona Ramzan

ORCID

, Oumaima Zarrik

ORCID

, Christophe Philippe

ORCID

, Cristina Fenollar‐Ferrer

ORCID

, Inna A. Belyantseva

ORCID

ORCID

ORCID

, Zunaira Munir

ORCID

, Rizwan Yousaf

ORCID

, Hafiza Idrees

ORCID

, Midhat Salman

ORCID

, Rasheeda Basheer

ORCID

, Sophie Nambot

ORCID

, Antonio Vitobello

ORCID

, Ayesha Imtiaz

ORCID

and 9 other authors

Variants of human CLDN9 cause mild to profound hearing loss

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This paper is made freely available by the publisher.

Fabienne Lesueur

ORCID

, Séverine Eon-Marchais, Sarah Bonnet-Boissinot, Juana Beauvallet, Marie-Gabrielle Dondon

ORCID

, Lisa Golmard, Etienne Rouleau, Céline Garrec, Mathilde Martinez, Christine Toulas, Tan Dat Nguyen, Fanny Brayotel, Louise Crivelli, Christine M. Maugard, Virginie Bubien and 41 other authors

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

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2020 Ange‐Line Bruel

ORCID

, Antonio Vitobello

ORCID

, Frédéric Tran Mau‐Them, Sophie Nambot

ORCID

, Frédéric Tran Mau‐Them

ORCID

, Arthur Sorlin, Anne‐Sophie Denommé‐Pichon

ORCID

, Julian Delanne, Sébastien Moutton, Christophe Philippe, Patrick Callier, Yannis Duffourd, Christel Thauvin‐Robinet, Laurence Faivre

Next‐Generation Sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

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Virginie Carmignac, Sophie Nambot

ORCID

, Cécile Zordan, Daphné Lehalle, Renaud Touraine, Stephanie Moortgat, Christiane Zweier

ORCID

, Patrick Callier, Sophie Naudion, Alain Verloes

ORCID

, Valérie Benoit

ORCID

, Francis Ramond

ORCID

, Frédéric Tran Mau‐Them, Jamal Ghoumid, André Reis and 17 other authors

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

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This paper is made freely available by the publisher.

Ash Zawerton, Cyril Mignot, Ashley Sigafoos

ORCID

, Patrick R. Blackburn, Abdul Haseeb

ORCID

, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles, Isabelle Marey, Anne-Claude Tabet, Jonathan Levy, Laurence Perrin, Andreas Hartmann and 70 other authors

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

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2018 Atg T. G. Chiu, Slc L. C. Pei, Ccy C. Y. Mak, Gkc K. C. Leung, Mhc H. C. Yu, Sl L. Lee, M. Vreeburg, T. M.‐T-T. Frederic, R. Pfundt, S. Nambot

ORCID

, I. van der Burgt, L. Faivre, A.‐L-L. Bruel

ORCID

, T. Kleefstra, M. Rossi and 7 other authors

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

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This paper was not found in any repository, but could be made available legally by the author.

2017 Aurélie Bourchany, Christel Thauvin-Robinet, Elise Schaefer, Daphné Lehalle, Aurélia Jaquette, Ange-Line Bruel, Judith St-Onge, Charlotte Poe, Alice Masurel-Paulet, Thibaud Jouan, Martin Chevarin, Nolwenn Jean, Patrick Callier, Anne-Laure Mosca-Boidron, Sophie Nambot

ORCID

and 16 other authors

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

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