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D. Lehalle · SciRah

Researcher profile · Semantic Scholar

D. Lehalle

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D. Lehalle — researcher profile on SciRah

h-index: 27
Works: 75
Citations: 2,184

Most-cited papers

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
S. Nambot, J. Thevenon, P. Kuentz, Y. Duffourd +21 more
2017Genetics in Medicine208 citations Open access
Semantic Scholar
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
H. Stessman, M. Willemsen, Michaela Fenckova, O. Penn +47 more
2016American Journal of Human Genetics159 citations Open access
Semantic Scholar
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
Hsiang-Chih Lu, Qiu-Min Tan, Maxime W. C. Rousseaux, Wei Wang +33 more
2017Nature Genetics128 citations Open access
Semantic Scholar
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
P. Kuentz, J. St‐Onge, Y. Duffourd, Jean-Benoît Courcet +57 more
2017Genetics in Medicine112 citations Open access
Semantic Scholar
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.
Florian Villegas, D. Lehalle, Daniela Mayer, Melanie Rittirsch +25 more
2019Cell Stem Cell111 citations Open access
Semantic Scholar
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, S. Moutton, S. S. Schrier Vergano +24 more
2019Human Molecular Genetics79 citations Open access
Semantic Scholar
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
C. Mignot, A. McMahon, C. Bar, Philippe M. Campeau +82 more
2018Genetics in Medicine62 citations Open access
Semantic Scholar
PFMG2025–integrating genomic medicine into the national healthcare system in France
Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel +496 more
2025The Lancet Regional Health - Europe61 citations Open access
Semantic Scholar
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability
D. Lehalle, Anne-Laure Mosca-Boidron, A. Begtrup, O. Boute‐Bénéjean +33 more
2017Journal of Medical Genetics58 citations Open access
Semantic Scholar
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
A. Quartier, Hélène Poquet, B. Gilbert-Dussardier, M. Rossi +27 more
2017European Journal of Human Genetics58 citations Open access
Semantic Scholar
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
H. Haijes, M. Koster, H. Rehmann, Dong Li +40 more
2019American Journal of Human Genetics57 citations Open access
Semantic Scholar
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
V. Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie +20 more
2021Nature Communications56 citations Open access
Semantic Scholar
Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients
D. Lehalle, C. Gordon, M. Oufadem, Géraldine Goudefroye +32 more
2014Human Mutation56 citations Open access
Semantic Scholar
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
S. Heide, M. Spentchian, S. Valence, J. Buratti +42 more
2020Genetics in Medicine50 citations Open access
Semantic Scholar
Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro‐Costo‐Mandibular Syndrome
Séverine Bacrot, M. Doyard, C. Huber, O. Alibeu +9 more
2015Human Mutation50 citations Open access
Semantic Scholar
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Caroline Nava, B. Cogné, A. Santini, E. Leitão +260 more
2024Nature Genetics49 citations Open access
Semantic Scholar
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature
V. Carmignac, S. Nambot, D. Lehalle, P. Callier +27 more
2020Clinical Genetics40 citations
Semantic Scholar
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
A. Zawerton, C. Mignot, Ashley N. Sigafoos, P. Blackburn +81 more
2019Genetics in Medicine36 citations Open access
Semantic Scholar
A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy
A. Lauritano, S. Moutton, E. Longobardi, F. Tran Mau-Them +12 more
2019Epilepsia Open34 citations Open access
Semantic Scholar
Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability
Alexandra Gauthier-Vasserot, C. Thauvin-Robinet, A. Bruel, Y. Duffourd +20 more
2017American Journal of Medical Genetics. Part A34 citations
Semantic Scholar
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
E. Bhoj, D. Haye, A. Toutain, D. Bonneau +23 more
2018European Journal of Medical Genetics33 citations Open access
Semantic Scholar
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations
M. Lefebvre, A. Bruel, É. Tisserant, N. Bourgon +52 more
2020Journal of Medical Genetics32 citations
Semantic Scholar
FOXE3 mutations: genotype‐phenotype correlations
J. Plaisancié, N. Ragge, H. Dollfus, J. Kaplan +6 more
2018Clinical Genetics32 citations Open access
Semantic Scholar
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
I. Parenti, D. Lehalle, C. Nava, E. Torti +40 more
2021Human Genetics30 citations Open access
Semantic Scholar
Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy
Hui Liu, A. Giguet-Valard, T. Simonet, E. Szenker-Ravi +45 more
2020Human Mutation30 citations Open access
Semantic Scholar
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Thomas Husson, F. Lecoquierre, G. Nicolas, A. Richard +94 more
2023European Journal of Human Genetics29 citations Open access
Semantic Scholar
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
A. Bourchany, C. Thauvin-Robinet, D. Lehalle, A. Bruel +27 more
2017European Journal of Medical Genetics29 citations
Semantic Scholar
Germline mutations in a G-protein identify signaling crosstalk in T cells
Hyoungjun Ham, Huie Jing, Ian T. Lamborn, Megan M. Kober +98 more
2024Science26 citations Open access
Semantic Scholar
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Ella M. M. A. Martin, Annabelle Enriquez, D. Sparrow, D. Humphreys +30 more
2020Human Molecular Genetics25 citations Open access
Semantic Scholar
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
S. Nambot, D. Gavrilov, J. Thevenon, A. Bruel +17 more
2017Clinical Genetics25 citations
Semantic Scholar
The different clinical facets of SYN1-related neurodevelopmental disorders
I. Parenti, E. Leitão, A. Kuechler, L. Villard +48 more
2022Frontiers in Cell and Developmental Biology24 citations Open access
Semantic Scholar
Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)
A. Chassagne, A. Pélissier, F. Houdayer, E. Cretin +28 more
2019European Journal of Human Genetics24 citations Open access
Semantic Scholar
Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations
A. Jourdain, F. Petit, M. Odou, M. Balduyck +18 more
2019Human Mutation23 citations Open access
Semantic Scholar
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
A. Bruel, A. Masurel‐Paulet, J. Rivière, Y. Duffourd +10 more
2017Clinical Genetics22 citations Open access
Semantic Scholar
2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases
A. Bruel, A. Vitobello, F. T. Mau-Them, S. Nambot +22 more
2018Genetics in Medicine21 citations Open access
Semantic Scholar
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome
A. Masurel‐Paulet, A. Piton, Sophie Chancenotte, C. Redin +18 more
2016American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
C. Velmans, A. O'Donnell-Luria, E. Argilli, Frederic Tran Mau-them +35 more
2021Journal of Medical Genetics20 citations Open access
Semantic Scholar
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests
C. Thauvin-Robinet, J. Thevenon, S. Nambot, J. Delanne +29 more
2019European Journal of Human Genetics20 citations Open access
Semantic Scholar
Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
J. Thevenon, C. Souchay, Gail K. Seabold, I. Dygai-Cochet +20 more
2015European Journal of Human Genetics20 citations Open access
Semantic Scholar
Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome
D. Lehalle, Charles A. Williams, V. Siu, J. Clayton-Smith
2011American Journal of Medical Genetics. Part A20 citations
Semantic Scholar
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
Elizabeth A. Werren, Emily R Peirent, Henna Jäntti, Alba Guxholli +26 more
2024Cell Death and Disease18 citations Open access
Semantic Scholar
Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases
D. Lehalle, R. Colombo, M. O'Grady, B. Héron +19 more
2019American Journal of Medical Genetics. Part A17 citations
Semantic Scholar
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
D. Lehalle, Pierre Vabres, A. Sorlin, T. Bierhals +47 more
2020Journal of Medical Genetics16 citations Open access
Semantic Scholar
Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism.
N. Kadlub, Q. Sessiecq, L. Dainese, A. Joly +11 more
2016Human Pathology15 citations
Semantic Scholar
Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations
L. Faivre, J. Crépin, M. Réda, S. Nambot +59 more
2023Clinical Genetics13 citations Open access
Semantic Scholar
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
F. Tran Mau-Them, S. Moutton, C. Racine, A. Vitobello +25 more
2020Human Genetics13 citations Open access
Semantic Scholar
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features
M. Bidart, Michèle El Atifi, Sarra Miladi, J. Rendu +17 more
2016Genetics in Medicine13 citations Open access
Semantic Scholar
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
N. Vegas, Z. Demir, C. Gordon, S. Breton +33 more
2022Human Mutation12 citations Open access
Semantic Scholar
Multiple congenital anomalies‐intellectual disability (MCA‐ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion
D. Lehalle, D. Sanlaville, A. Guimier, E. Plouvier +8 more
2014American Journal of Medical Genetics. Part A12 citations
Semantic Scholar
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients
D. Lehalle, U. Altunoğlu, A. Bruel, É. Arnaud +12 more
2017American Journal of Medical Genetics. Part A11 citations
Semantic Scholar

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J. Thevenon×27
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J. Thevenon — researcher profile on SciRah
C. Thauvin-Robinet×23
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C. Thauvin-Robinet — researcher profile on SciRah
Y. Duffourd×21
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Y. Duffourd — researcher profile on SciRah
L. Faivre×20
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L. Faivre — researcher profile on SciRah

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P. Kuentz — researcher profile on SciRah

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A. Bruel — researcher profile on SciRah

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S. Nambot — researcher profile on SciRah

A. Vitobello×13

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A. Vitobello — researcher profile on SciRah

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S. Moutton — researcher profile on SciRah

C. Philippe×11

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C. Philippe — researcher profile on SciRah

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P. Callier — researcher profile on SciRah

S. El Chehadeh×11

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S. El Chehadeh — researcher profile on SciRah