N. Drouot

发表

A physical map of 30,000 human genes.

P. Lijnzaad, P. Deloukas, E. Lander, 1998, Science.

A Gene Map of the Human Genome

P. Deloukas, E. Lander, M. Adams, 1996, Science.

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

R. Redon, N. Drouot, J. Dartigues, 2020, European Journal of Human Genetics.

A comprehensive genetic map of the human genome based on 5,264 microsatellites

Cécile Fizames, Colette Dib, Jean Weissenbach, 1996, Nature.

Early‐Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation

W. Chung, N. Drouot, C. Blauwendraat, 2020, Annals of neurology.

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.

N. Drouot, P. Bauer, R. Schüle, 2014, Brain : a journal of neurology.

Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

N. Drouot, T. Frebourg, P. Saugier-Veber, 2001, European journal of endocrinology.

Increased diagnostic yield in complex dystonia through exome sequencing.

N. Drouot, P. Burbaud, L. Cif, 2020, Parkinsonism & related disorders.

Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia

A. Pagnamenta, N. Drouot, I. Sumara, 2016, Nature Genetics.

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

N. Drouot, H. Dollfus, J. Chelly, 2018, European Journal of Human Genetics.

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

N. Drouot, A. Durr, M. Koenig, 2016, Journal of Neurology.

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants

N. Drouot, A. Laquérriere, K. Cassinari, 2021, Acta neuropathologica communications.

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.

N. Drouot, M. Koenig, T. S. Ahmed, 2010, Brain : a journal of neurology.

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)

N. Drouot, S. Ferdinandusse, M. Koenig, 2015, European Journal of Human Genetics.

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.

N. Drouot, S. Dimauro, F. Plewniak, 2008, American journal of human genetics.

Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion

N. Drouot, V. Czernecki, T. Frebourg, 2010, American journal of medical genetics. Part A.

Conditional switching of KIF2A mutation provides new insights into cortical malformations pathogeny.

N. Drouot, H. Meziane, B. Yalcin, 2020, Human molecular genetics.

uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome

N. Drouot, O. Quenez, K. Cassinari, 2022, Human mutation.

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.

N. Drouot, A. Durr, M. Koenig, 2014, JAMA neurology.

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

N. Drouot, P. Striano, F. Zara, 2022, Human mutation.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

R. Weksberg, N. Drouot, Y. Hérault, 2021, Genetics in Medicine.

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

J. Gécz, N. Drouot, P. Striano, 2022, Nature Communications.

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

M. Shaw, J. Gécz, N. Drouot, 2019, Human mutation.

The Salih Ataxia Mutation Impairs Rubicon Endosomal Localization

N. Drouot, M. Koenig, A. Martelli, 2013, The Cerebellum.

Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia.

N. Drouot, D. Guehl, P. Burbaud, 2019, Parkinsonism & related disorders.

Early onset brain tumor and lymphoma in MSH2-deficient children.

N. Drouot, T. Frebourg, G. Bougeard, 2003, American journal of human genetics.

Detection of heterozygousSMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

N. Drouot, A. Munnich, T. Frebourg, 2001, Journal of medical genetics.

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients

N. Drouot, A. Boland, D. Lacombe, 2022, Human mutation.

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.

N. Drouot, M. Koenig, T. Klockgether, 2010, American journal of human genetics.

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome

N. Drouot, J. Mandel, B. Gilbert-Dussardier, 2022, bioRxiv.

Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism

N. Drouot, M. Baulac, M. Habert, 2020, Movement disorders : official journal of the Movement Disorder Society.

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

N. Drouot, M. Koenig, D. Stoppa-Lyonnet, 2010, neurogenetics.

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation

N. Drouot, V. Drouin‐Garraud, T. Frebourg, 2006, European Journal of Human Genetics.

Highlighting the Dystonic Phenotype Related to GNAO1

N. Drouot, M. Vidailhet, L. Cif, 2022, Movement disorders : official journal of the Movement Disorder Society.

Systematic analysis and prediction of genes associated with disorders on chromosome X

J. Gécz, N. Drouot, P. Striano, 2022, medRxiv.

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia

N. Drouot, M. Koenig, J. Muller, 2015, BMC Medical Genetics.

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

N. Drouot, M. Koenig, F. Santorelli, 2010, Journal of Neurology.

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

N. Drouot, A. Durr, L. Schöls, 2009, Brain : a journal of neurology.

A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23.

N. Drouot, M. Koenig, M. Gribaa, 2007, Brain : a journal of neurology.

Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments.

N. Drouot, J. Saurin, T. Frebourg, 2000, Cancer research.

Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.

G. Gyapay, N. Drouot, C. Fizames, 1998, Genome research.

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Frédéric Tran Mau-Them, Jean-François Deleuze, Elise Schaefer, 2017, American journal of human genetics.

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

R. Redon, N. Drouot, J. Dartigues, 2020, European Journal of Human Genetics.

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia

N. Drouot, S. Ferdinandusse, M. Koenig, 2016, Journal of Neurology.

Genotype-phenotype correlations for the type 1 lissencephaly of eight Tunisian children Journal of Clinical Images and Medical Case Reports

N. Drouot, J. Chelly, A. Saâd, 2022 .

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

N. Drouot, Y. Hérault, B. Yalcin, 2019, Nature Communications.

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

N. Drouot, C. Fallet-Bianco, P. Gressens, 2013, Acta Neuropathologica.

Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus

N. Drouot, T. Frebourg, V. Castellani, 2012, neurogenetics.

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

N. Drouot, M. Koenig, M. Claustres, 2015, Human molecular genetics.

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

N. Drouot, M. Koenig, J. Mandel, 2018, JAMA neurology.

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development

N. Drouot, L. Nguyen, N. Lebrun, 2017, Human molecular genetics.

Development of a nonfluorescent multiplex semiquantitative polymerase chain reaction to confirm rearrangements detected by array-comparative genomic hybridization.

N. Drouot, T. Frebourg, P. Chambon, 2011, Genetic testing and molecular biomarkers.

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.

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

A. Hoischen, N. Drouot, J. Veltman, 2010, American journal of human genetics.

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

N. Drouot, Y. Hérault, B. Yalcin, 2019, Nature Communications.

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

N. Drouot, L. Minotti, P. Kahane, 2020, European Journal of Human Genetics.

Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus

N. Drouot, T. Frebourg, V. Castellani, 2012, neurogenetics.

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia

N. Drouot, M. Koenig, F. Ory-Magne, 2021, Journal of Neurology.

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders

N. Drouot, A. Boland, O. Quenez, 2023, Human Genetics.

The Salih Ataxia Mutation Impairs Rubicon Endosomal Localization

N. Drouot, M. Koenig, A. Martelli, 2013, The Cerebellum.

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

N. Drouot, A. Durr, M. Koenig, 2013, Orphanet Journal of Rare Diseases.

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

N. Drouot, H. Dollfus, J. Chelly, 2018, European Journal of Human Genetics.

De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia

N. Drouot, J. Chelly, A. Piton, 2022, Movement disorders : official journal of the Movement Disorder Society.

Reply to “PPP2R5D Genetic Mutations and Early Onset Parkinsonism”

W. Chung, N. Drouot, C. Blauwendraat, 2020, Annals of neurology.

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

N. Drouot, Y. Hérault, B. Yalcin, 2019, Nature Communications.