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S. Julia · SciRah

Researcher profile · Semantic Scholar

S. Julia

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S. Julia — researcher profile on SciRah

h-index: 28
Works: 70
Citations: 2,346

Most-cited papers

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
C. Depienne, D. Bouteiller, B. Keren, E. Cheuret +21 more
2009PLoS Genetics360 citations Open access
Semantic Scholar
The landscape of epilepsy-related GATOR1 variants
S. Baldassari, F. Picard, N. Verbeek, M. van Kempen +84 more
2018Genetics in Medicine214 citations Open access
Semantic Scholar
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
M. Vincent, D. Geneviève, A. Ostertag, S. Marlin +52 more
2015Genetics in Medicine156 citations Open access
Semantic Scholar
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
C. Marini, A. Porro, A. Rastetter, C. Dalle +66 more
2018Brain : a journal of neurology119 citations Open access
Semantic Scholar
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
V. Carmignac, J. Thevenon, L. Adès, B. Callewaert +34 more
2012American Journal of Human Genetics114 citations Open access
Semantic Scholar
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
M. Legendre, V. Abadie, T. Attié-Bitach, N. Philip +43 more
2017American Journal of Medical Genetics. Part C, Seminars in Medical Genetics75 citations Open access
Semantic Scholar
Autosomal recessive primary microcephaly due to ASPM mutations: An update
Pascaline Létard, S. Drunat, Y. Vial, Sarah Duerinckx +44 more
2018Human Mutation68 citations Open access
Semantic Scholar
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
M. Miguet, L. Faivre, J. Amiel, M. Nizon +83 more
2018Journal of Medical Genetics58 citations Open access
Semantic Scholar
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
H. Margot, Guilaine Boursier, C. Duflos, E. Sanchez +57 more
2019Genetics in Medicine57 citations Open access
Semantic Scholar
New candidate loci identified by array‐CGH in a cohort of 100 children presenting with syndromic obesity
M. Vuillaume, Sophie Naudion, G. Banneau, G. Diene +23 more
2014American Journal of Medical Genetics. Part A56 citations
Semantic Scholar
ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors
E. Uro-Coste, J. Masliah-Planchon, A. Siegfried, Maud Blanluet +18 more
2018Acta Neuropathologica53 citations Open access
Semantic Scholar
Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5‐related disease
L. Allou, S. Julia, D. Amsallem, S. El Chehadeh +11 more
2017Clinical Genetics52 citations
Semantic Scholar
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
M. Barat-Houari, B. Dumont, A. Fabre, Frédéric TM Them +51 more
2015European Journal of Human Genetics52 citations Open access
Semantic Scholar
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
V. Faundes, S. Goh, Rhoda Akilapa, H. Bezuidenhout +40 more
2021Genetics in Medicine50 citations Open access
Semantic Scholar
Linkage analysis of high myopia susceptibility locus in 26 families
S. Paget, S. Julia, Z. Vitezica, V. Soler +2 more
2008Molecular Vision49 citations
Semantic Scholar
Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
M. Bauer, U. Kölsch, Renate Krüger, N. Unterwalder +29 more
2015Journal of Clinical Immunology45 citations Open access
Semantic Scholar
Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype
Elsa Haine, J. Salles, P. Khau Van Kien, F. Conte-Auriol +6 more
2015Journal of Bone and Mineral Research38 citations Open access
Semantic Scholar
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
N. Calmels, G. Greff, C. Obringer, N. Kempf +25 more
2016Orphanet Journal of Rare Diseases37 citations Open access
Semantic Scholar
Correction: Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
M. Lefebvre, A. Dieux-Coeslier, G. Baujat, E. Schaefer +38 more
2018Journal of Medical Genetics35 citations Open access
Semantic Scholar
Severe Phenotype in Patients with Large Deletions of NF1
Laurence Pacot, D. Vidaud, A. Sabbagh, I. Laurendeau +46 more
2021Cancers34 citations Open access
Semantic Scholar
Intragenic rearrangements in X‐linked intellectual deficiency: Results of a‐CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes
C. Mignon‐Ravix, Pierre Cacciagli, Nancy Choucair, C. Popovici +10 more
2014American Journal of Medical Genetics. Part A34 citations
Semantic Scholar
Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures
J. Denis, N. Villeneuve, Pierre Cacciagli, C. Mignon‐Ravix +24 more
2019Epilepsia33 citations
Semantic Scholar
Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient.
J. Plaisancié, P. Kleinfinger, C. Cancés, A. Bazin +4 more
2014European Journal of Medical Genetics33 citations
Semantic Scholar
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
M. Benkirane, C. Marelli, C. Guissart, A. Roubertie +81 more
2021Genetics in Medicine32 citations Open access
Semantic Scholar
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.
B. Demeer, J. Andrieux, A. Receveur, G. Morin +12 more
2013European Journal of Medical Genetics32 citations
Semantic Scholar
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia
M. Cossée, L. Faivre, C. Philippe, Heifa Hichri +14 more
2011American Journal of Medical Genetics. Part A32 citations
Semantic Scholar
Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.
G. Millat, V. Chanavat, S. Julia, Hervé Créhalet +2 more
2009Clinical Biochemistry31 citations
Semantic Scholar
Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
C. Depienne, D. Bouteiller, B. Keren, E. Cheuret +21 more
2009PLoS Genetics28 citations Open access
Semantic Scholar
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
S. El Chehadeh, L. Faivre, Anne-Laure Mosca-Boidron, V. Malan +54 more
2016American Journal of Medical Genetics. Part A27 citations
Semantic Scholar
Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy‐like phenotype
N. Chassaing, P. Demas, M. Tauber, Marie-Claire Vincent +4 more
2004American Journal of Medical Genetics. Part A26 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
Distal 10q monosomy: new evidence for a neurobehavioral condition?
J. Plaisancié, L. Bouneau, C. Cancés, C. Garnier +7 more
2014European Journal of Medical Genetics23 citations
Semantic Scholar
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
M. Aerden, A. Denommé-Pichon, D. Bonneau, A. Bruel +54 more
2023European Journal of Human Genetics21 citations Open access
Semantic Scholar
Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome
P. Demas, N. Chassaing, Y. Chaix, M. Vincent +4 more
2002Journal of Medical Genetics21 citations Open access
Semantic Scholar
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature
Bertrand Chesneau, T. Edouard, Y. Dulac, H. Colineaux +10 more
2020Molecular Genetics & Genomic Medicine18 citations Open access
Semantic Scholar
Association of external auditory canal atresia, vertical talus, and hypertelorism: confirmation of Rasmussen syndrome.
S. Julia, J. Pedespan, P. Boudard, R. Barbier +3 more
2002American journal of medical genetics18 citations
Semantic Scholar
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy
Johannes Luppe, H. Sticht, F. Lecoquierre, A. Goldenberg +13 more
2022European Journal of Human Genetics16 citations Open access
Semantic Scholar
Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history
K. Nguyen, Audrey Putoux, T. Busa, M. Cordier +13 more
2015Clinical Genetics15 citations
Semantic Scholar
Genomic Incidental Findings: Reducing the Burden to Be Fair
V. Anastasova, A. Blasimme, S. Julia, A. Cambon-Thomsen
2013American Journal of Bioethics15 citations Open access
Semantic Scholar
Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling
S. Baer, C. Obringer, S. Julia, J. Chelly +10 more
2020Clinical Genetics14 citations
Semantic Scholar
Searching for secondary findings: considering actionability and preserving the right not to know
B. Isidor, S. Julia, P. Saugier-Veber, P.-L. Weil-Dubuc +22 more
2019European Journal of Human Genetics14 citations Open access
Semantic Scholar
Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey
M. Lefebvre, D. Sanlaville, N. Marle, C. Thauvin-Robinet +63 more
2016Clinical Genetics13 citations Open access
Semantic Scholar
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays
M. Legendre, M. Rodríguez-Ballesteros, M. Rossi, V. Abadie +22 more
2017European Journal of Human Genetics12 citations Open access
Semantic Scholar
Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome
Liselot van der Laan, Kathleen Rooney, M. Alders, R. Relator +31 more
2022International Journal of Molecular Sciences11 citations Open access
Semantic Scholar
Tetra‐amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes
M. Krahn, S. Julia, S. Sigaudy, A. Liprandi +8 more
2005Clinical Genetics11 citations
Semantic Scholar
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus
Bertrand Chesneau, Aurélie Plancke, G. Rolland, B. Marcheix +8 more
2021Molecular Genetics & Genomic Medicine9 citations Open access
Semantic Scholar
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
F. Rouxel, K. Yauy, Guilaine Boursier, V. Gatinois +24 more
2021European Journal of Human Genetics8 citations Open access
Semantic Scholar
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
S. Efthymiou, C. Leo, C. Deng, Sheng-Jia Lin +96 more
2025American Journal of Human Genetics7 citations Open access
Semantic Scholar
Correction: The landscape of epilepsy-related GATOR1 variants
S. Baldassari, F. Picard, N. Verbeek, M. van Kempen +84 more
2018Genetics in Medicine7 citations Open access
Semantic Scholar
Disclosing Results to Genomic Research Participants: Differences That Matter
A. Blasimme, Alexandra Soulier, S. Julia, S. Leonard +1 more
2012American Journal of Bioethics7 citations Open access
Semantic Scholar

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