S. Nambot

发表

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

A. Munnich, D. Lacombe, F. Giuliano, 2020, European Journal of Human Genetics.

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

J. Thevenon, L. Faivre, C. Philippe, 2021, Molecular genetics and metabolism reports.

Effect of chemoprevention by low-dose aspirin of new or recurrent colorectal adenomas in patients with Lynch syndrome (AAS-Lynch): study protocol for a multicenter, double-blind, placebo-controlled randomized controlled trial

A. Amiot, I. Sobhani, M. Boubaya, 2020, Trials.

Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.

W. Foulkes, D. Lambrechts, O. Cussenot, 2021, European journal of cancer.

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

R. Pfundt, M. Reijnders, S. Küry, 2018, Clinical genetics.

Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and Impact on patients.

C. Coutant, C. Lejeune, R. Boidot, 2021, European journal of medical genetics.

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.

C. Lejeune, R. Boidot, J. Thevenon, 2019, European journal of medical genetics.

A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype.

Y. Béjot, L. Faivre, Quentin Thomas, 2022, Alzheimer disease and associated disorders.

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation

J. Thevenon, L. Faivre, Y. Duffourd, 2018, American journal of medical genetics. Part A.

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

J. Thevenon, L. Faivre, C. Philippe, 2022, Annals of human genetics.

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.

J. Rosenfeld, P. Striano, F. Zara, 2022, American journal of human genetics.

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

R. Touraine, A. Verloes, F. Ramond, 2020, Clinical genetics.

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

W. Chung, D. Steinemann, F. Couch, 2022, Communications Biology.

Detection of relevant pharmacogenetic information through exome sequencing in oncology.

R. Boidot, L. Faivre, C. Thauvin-Robinet, 2022, Pharmacogenomics.

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

Edith Le Floch, P. Guénel, T. Truong, 2022, European journal of cancer.

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.

R. Quinton, W. Crowley, A. Wilkie, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

The different clinical facets of SYN1-related neurodevelopmental disorders

F. Benfenati, P. Striano, L. Mazzola, 2022, Frontiers in Cell and Developmental Biology.

The “extreme phenotype approach” applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles

J. Rivière, R. Boidot, L. Faivre, 2023, Oncotarget.

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

G. Cooper, P. Fergelot, K. Devriendt, 2020, European Journal of Human Genetics.

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

F. Lecoquierre, L. Faivre, C. Philippe, 2019, Genetics in Medicine.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications

Abou, N. Brunetti‐Pierri, J. Hentschel, 2022, medRxiv.

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

C. Flamant, A. Toutain, A. Boland, 2021, European Journal of Human Genetics.

Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2021, Molecular genetics & genomic medicine.

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

V. Dulieu, P. Jouk, C. Rooryck, 2015, European Journal of Human Genetics.

Implementation and use of whole exome sequencing for metastatic solid cancer

C. Lepage, R. Boidot, C. Borg, 2020, EBioMedicine.

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

J. Lemonnier, N. Sevenet, D. Stoppa-Lyonnet, 2021, Cancers.

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

S. Kushner, F. Lecoquierre, J. Thevenon, 2020, Human Genetics.

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

S. Kushner, F. Lecoquierre, J. Thevenon, 2020, Human Genetics.

Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

Patrick Callier, Ange-Line Bruel, Antonio Vitobello, 2020, Clinical genetics.

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Patrick Callier, Ange-Line Bruel, Sophie Nambot, 2017, Genetics in Medicine.

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

J. Deleuze, J. Thevenon, L. Faivre, 2019, European Journal of Human Genetics.

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

J. Rivière, J. Thevenon, L. Faivre, 2017, European journal of medical genetics.

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

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

J. Melki, N. Philip, Salima El-Chehadeh, 2019, European Journal of Human Genetics.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

J. Thevenon, L. Faivre, C. Philippe, 2019, European Journal of Human Genetics.

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

J. Thevenon, L. Faivre, S. Blesson, 2022, European Journal of Human Genetics.

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2020, American journal of medical genetics. Part C, Seminars in 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.

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.

N. Drouot, P. V. Van Ness, A. Goldman, 2020, American journal of human genetics.

Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of intellectual disability with autistic features

N. Drouot, A. Goldman, A. Telegrafi, 2019, bioRxiv.

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

Y. Béjot, M. Giroud, L. Faivre, 2021, Journal of the Neurological Sciences.

Variants of human CLDN9 cause mild to profound hearing loss

T. Friedman, C. Philippe, C. Fenollar-Ferrer, 2021, Human mutation.

2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

F. Lecoquierre, J. Thevenon, A. Telegrafi, 2018, Genetics in Medicine.

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

F. Prieur, N. Hamzaoui, F. Desseigne, 2021, European journal of medical genetics.

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.

Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D

S. Banka, L. Faivre, C. Philippe, 2022, American Journal of Medical Genetics. Part A.

Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literature

C. Thauvin-Robinet, M. Giroud, S. Nambot, 2022, Neurological Sciences.

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.

G. Mancini, D. Bick, J. Thevenon, 2019, Human molecular genetics.

Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group.

Zheng Wang, Hong Zhang, C. Clavel, 2023, Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.].

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

J. Thevenon, S. Mercier, L. Faivre, 2023, Frontiers in Genetics.

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases

E. Colin, J. Thevenon, L. Faivre, 2023, Journal of medical genetics.

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2022, American journal of medical genetics. Part A.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

N. Brunetti‐Pierri, J. Hentschel, F. Alkuraya, 2022, American journal of human genetics.

Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients

R. Boidot, A. Baurand, G. Bertolone, 2023, Cancer medicine.

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

J. Deleuze, J. Thevenon, L. Faivre, 2019, European Journal of Human Genetics.

Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France

C. Thauvin-Robinet, A. Bertaut, C. Cabrol, 2023, European Journal of Medical Genetics.

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.

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.

Mahshid S. Azamian, S. Lalani, B. Isidor, 2023, American journal of medical genetics. Part A.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Maeson S. Latsko, P. Jayakar, K. Štěrbová, 2023, Research square.

[Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases].

S. Nambot, C. Binquet, D. Sanlaville, 2018, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

RNA variant assessment using transactivation and transdifferentiation

A. Spurdle, C. Poulton, M. Corbett, 2024, American journal of human genetics.

Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases

J. Thevenon, L. Faivre, C. Philippe, 2019, American journal of medical genetics. Part A.

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

A. Beaudet, M. Bainbridge, A. Rötig, 2017, Clinical genetics.