D. Lehalle

发表

Ethan M. Goldberg, A. Munnich, E. Goldberg, 2018, Genetics in Medicine.

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.

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

G. Captier, H. Kayserili, M. Vezain, 2018, American journal of medical genetics. Part A.

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients

J. Choi, H. Kayserili, J. Thevenon, 2017, American journal of medical genetics. Part A.

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

J. Mandel, B. Gilbert-Dussardier, J. Thevenon, 2017, European Journal of Human Genetics.

A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy

C. Philippe, M. Cataldi, H. Maurey, 2019, Epilepsia open.

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

R. Petralia, E. Guedj, J. Thevenon, 2015, European Journal of Human Genetics.

Multiple congenital anomalies‐intellectual disability (MCA‐ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion

T. Leblanc, S. Lyonnet, S. Romana, 2014, American journal of medical genetics. Part A.

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

J. Rivière, S. Béjean, J. Thevenon, 2019, European Journal of Human Genetics.

FOXE3 mutations: genotype‐phenotype correlations

P. Calvas, N. Chassaing, H. Dollfus, 2018, Clinical genetics.

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

B. Papsin, R. Zechi-Ceide, N. M. Kokitsu-Nakata, 2022, Human mutation.

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.

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

J. Rivière, J. Deleuze, J. Thevenon, 2017, Clinical genetics.

Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

R. Touraine, N. Chassaing, P. Jouk, 2020, Human mutation.

Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism.

M. Vazquez, A. Berdal, M. Deckert, 2016, Human pathology.

Defining a new aggressiveness classification and using NFATc 1 localization as a prognostic factor in cherubism Running title : NFATc 1 localization : a prognosis factor for cherubism

M. Vazquez, A. Berdal, M. Deckert, 2016 .

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

C. Garel, A. Benachi, C. Bénéteau, 2020, Genetics in Medicine.

Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome

J. Clayton-Smith, V. Siu, Charles A. Williams, 2011, American journal of medical genetics. Part A.

Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients

A. Munnich, N. Baena, A. Verloes, 2014, Human mutation.

The different clinical facets of SYN1-related neurodevelopmental disorders

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

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

A. O’Donnell-Luria, N. Chassaing, C. Schaaf, 2021, Journal of Medical Genetics.

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Carol J. Saunders, C. Saunders, W. Newman, 2021, Nature communications.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Marni J. Falk, Donna M. Martin, R. Pfundt, 2019, American journal of human genetics.

A review of craniofacial disorders caused by spliceosomal defects

D. Wieczorek, M. Passos-Bueno, R. Zechi-Ceide, 2015, Clinical genetics.

Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro‐Costo‐Mandibular Syndrome

A. Munnich, P. Nitschké, D. Lacombe, 2015, Human mutation.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Bradley P. Coe, B. Coe, J. Schuurs-Hoeijmakers, 2016, American journal of human genetics.

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

C. Garel, A. Benachi, C. Bénéteau, 2020, Genetics in Medicine.

Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

J. Melki, J. Rivière, J. Thevenon, 2017, American journal of medical genetics. Part A.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

R. Touraine, C. Chiaverini, J. Rivière, 2017, Genetics in Medicine.

Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Maxime W. C. Rousseaux, H. Zoghbi, Zhandong Liu, 2017, Nature Genetics.

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features

J. Clayton-Smith, P. Jouk, J. Thevenon, 2016, Genetics in Medicine.

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.

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

J. Rivière, S. Béjean, J. Thevenon, 2019, European Journal of Human 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.

Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Maxime W. C. Rousseaux, H. Zoghbi, Zhandong Liu, 2017, Nature Genetics.

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.

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

C. Saunders, A. Fry, V. Faundes, 2021, Nature Communications.

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.

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

G. Captier, M. Vezain, J. Roume, 2022, American journal of medical genetics. Part A.

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

F. Giuliano, F. Escande, A. Dieux, 2020, Human mutation.

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.

D. Humphreys, P. Giampietro, E. Giannoulatou, 2020, Human molecular genetics.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

E. Zackai, H. Hakonarson, C. Saunders, 2019, European journal of medical genetics.

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Golder N Wilson, I. Simonic, Soo-Mi Park, 2017, Journal of 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 mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

J. Clayton-Smith, D. Harris, J. Rivière, 2020, Journal of Medical Genetics.

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome

N. Philip, J. Mandel, J. Thevenon, 2016, American journal of medical genetics. Part A.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

M. Lyons, C. Depienne, R. Person, 2021, Human genetics.

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Michael B. Stadler, S. Smallwood, J. Rivière, 2019, Cell stem cell.

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

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.

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.

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly

J. Rivière, J. Thevenon, L. Faivre, 2018, Clinical genetics.

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.

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.

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.

Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro‐Costo‐Mandibular Syndrome

A. Munnich, P. Nitschké, D. Lacombe, 2015, Human Mutation.

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.

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features

J. Clayton-Smith, P. Jouk, J. Thevenon, 2016, Genetics in Medicine.

Growth charts in DYRK1A syndrome

A. Afenjar, A. Bayat, L. Pasquier, 2023, American journal of medical genetics. Part A.