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S. Passemard · SciRah

Researcher profile · Semantic Scholar

S. Passemard

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S. Passemard — researcher profile on SciRah

h-index: 33
Works: 97
Citations: 3,292

Most-cited papers

WDR62 is associated with the spindle pole and is mutated in human microcephaly
A. Nicholas, M. Khurshid, J. Désir, Ofélia P. Carvalho +14 more
2010Nature Genetics308 citations Open access
Semantic Scholar
Many roads lead to primary autosomal recessive microcephaly.
A. Kaindl, S. Passemard, Pavan Kumar, Nadine Kraemer +6 more
2010Progress in neurobiology217 citations
Semantic Scholar
Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities
Martin W. Breuss, J. Heng, K. Poirier, G. Tian +19 more
2012Cell Reports177 citations Open access
Semantic Scholar
Neuroprotective Effects of Dexmedetomidine against Glutamate Agonist-induced Neuronal Cell Death Are Related to Increased Astrocyte Brain-derived Neurotrophic Factor Expression
V. Degos, T. le Charpentier, V. Chhor, O. Brissaud +6 more
2013Anesthesiology154 citations Open access
Semantic Scholar
Embryonic depletion of serotonin affects cortical development
T. Vitalis, O. Cases, S. Passemard, J. Callebert +1 more
2007European Journal of Neuroscience150 citations
Semantic Scholar
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations
S. Passemard, L. Titomanlio, M. Elmaleh, A. Afenjar +19 more
2009Neurology120 citations
Semantic Scholar
Microcephaly.
S. Passemard, A. Kaindl, A. Verloes
2013Handbook of Clinical Neurology116 citations
Semantic Scholar
Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.
D. Hervé, A. Philippi, Reda Belbouab, M. Zérah +21 more
2014American Journal of Human Genetics111 citations Open access
Semantic Scholar
ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53
V. El Ghouzzi, Federico T. Bianchi, I. Molineris, Bryan C. Mounce +14 more
2016Cell Death and Disease109 citations Open access
Semantic Scholar
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
Allen N. Lamb, J. Rosenfeld, N. Neill, M. Talkowski +39 more
2012Human Mutation108 citations Open access
Semantic Scholar
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
C. Depienne, C. Nava, B. Keren, S. Heide +57 more
2017Human Genetics76 citations Open access
Semantic Scholar
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
Paranchai Boonsawat, P. Joset, K. Steindl, B. Oneda +27 more
2019Genetics in Medicine75 citations Open access
Semantic Scholar
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
A. Tabet, T. Rolland, M. Ducloy, J. Lévy +58 more
2017npj Genomic Medicine73 citations Open access
Semantic Scholar
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Lucas M. Bronicki, C. Redin, S. Drunat, A. Piton +17 more
2015European Journal of Human Genetics73 citations Open access
Semantic Scholar
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.
K. Izumi, M. Brett, Eriko Nishi, S. Drunat +20 more
2016American Journal of Human Genetics71 citations Open access
Semantic Scholar
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.
B. Harding, A. Moccia, S. Drunat, O. Soukarieh +10 more
2016American Journal of Human Genetics70 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
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
Sophie Scheidecker, C. Etard, L. Haren, C. Stoetzel +16 more
2015American Journal of Human Genetics66 citations Open access
Semantic Scholar
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders
A. Verloes, S. Drunat, P. Gressens, S. Passemard
201359 citations
Semantic Scholar
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.
M. Schiff, A. Delahaye, J. Andrieux, D. Sanlaville +12 more
2010European Journal of Medical Genetics50 citations
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
Golgipathies in Neurodevelopment: A New View of Old Defects
S. Rasika, S. Passemard, A. Verloes, P. Gressens +1 more
2019Developmental Neuroscience45 citations Open access
Semantic Scholar
Golgi trafficking defects in postnatal microcephaly: The evidence for “Golgipathies”
S. Passemard, Franck Perez, Emilie Colin-Lemesre, S. Rasika +2 more
2017Progress in neurobiology44 citations Open access
Semantic Scholar
STIL balancing primary microcephaly and cancer
Dhruti Patwardhan, S. Mani, S. Passemard, P. Gressens +1 more
2018Cell Death and Disease40 citations Open access
Semantic Scholar
Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome
Tina Storm, C. Zeitz, O. Cases, S. Amsellem +12 more
2013BMC Medical Genetics40 citations Open access
Semantic Scholar
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Jérémie Courraud, Eric J Chater-Diehl, B. Durand, M. Vincent +66 more
2021Genetics in Medicine37 citations Open access
Semantic Scholar
Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory.
S. Passemard, A. Verloes, T. Billette de Villemeur, O. Boespflug-Tanguy +14 more
2016Cortex; a journal devoted to the study of the nervous system and behavior35 citations Open access
Semantic Scholar
Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.
Nina Dupuis, A. Fafouri, A. Bayot, Manoj Kumar +18 more
2015Human Molecular Genetics35 citations Open access
Semantic Scholar
Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification
D. Germanaud, J. Lefévre, C. Fischer, M. Bintner +12 more
2014NeuroImage35 citations Open access
Semantic Scholar
Endoplasmic reticulum and Golgi stress in microcephaly
S. Passemard, Franck Perez, P. Gressens, V. El Ghouzzi
2019Cell Stress33 citations Open access
Semantic Scholar
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder
A. Tabet, A. Verloes, M. Pilorge, Elsa Delaby +18 more
2015Molecular Autism33 citations Open access
Semantic Scholar
VIP-induced neuroprotection of the developing brain.
S. Passemard, P. Sokołowska, L. Schwendimann, P. Gressens
2011Current pharmaceutical design33 citations Open access
Semantic Scholar
Ectodermal dysplasia‐like syndrome with mental retardation due to contiguous gene deletion: Further clinical and molecular delineation of del(2q32) syndrome
L. Rifai, M. Port-Lis, A. Tabet, I. Bailleul‐Forestier +6 more
2010American Journal of Medical Genetics. Part A33 citations
Semantic Scholar
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies
L. Lodi, I. Melki, V. Bondet, L. Seabra +35 more
2021Journal of Clinical Immunology32 citations Open access
Semantic Scholar
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells
M. Cavallin, M. Rujano, N. Bednarek, Daniel Medina-Cano +30 more
2017Brain : a journal of neurology32 citations Open access
Semantic Scholar
Craniosynostosis: A rare complication of pycnodysostosis.
S. Osimani, I. Husson, S. Passemard, M. Elmaleh +6 more
2010European Journal of Medical Genetics30 citations
Semantic Scholar
Neuroprotective effects of NAP against excitotoxic brain damage in the newborn mice: implications for cerebral palsy.
P. Sokołowska, S. Passemard, A. Mok, Leslie Schwendimann +2 more
2011Neuroscience29 citations
Semantic Scholar
VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling.
S. Passemard, V. El Ghouzzi, H. Nasser, C. Verney +10 more
2011Journal of Clinical Investigation28 citations Open access
Semantic Scholar
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
Audrey Schalk, M. Cousin, Nikita R. Dsouza, T. Challman +68 more
2020Journal of Medical Genetics27 citations Open access
Semantic Scholar
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
H. Nasser, L. Vera, M. Elmaleh-Bergès, K. Steindl +21 more
2020Journal of Medical Genetics25 citations Open access
Semantic Scholar
Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways
Sarah Duerinckx, Valerie Jacquemin, S. Drunat, Y. Vial +18 more
2019Human Mutation25 citations Open access
Semantic Scholar
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies
A. Delahaye, P. Bitoun, S. Drunat, M. Gerard-Blanluet +17 more
2012European Journal of Human Genetics23 citations Open access
Semantic Scholar
Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size
Sarah Farcy, Hassina Hachour, N. Bahi-buisson, S. Passemard
2023Cells22 citations Open access
Semantic Scholar
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome
J. Lévy, A. Coussement, C. Dupont, F. Guimiot +10 more
2017American Journal of Medical Genetics. Part A22 citations
Semantic Scholar
VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.
A. Uwineza, J. Caberg, J. Hitayezu, S. Wenric +7 more
2019European Journal of Medical Genetics21 citations Open access
Semantic Scholar
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
A. de Thonel, Johanna K. Ahlskog, Kévin Daupin, Véronique Dubreuil +34 more
2022Nature Communications20 citations Open access
Semantic Scholar
GM3 synthase deficiency in non-Amish patients.
S. Heide, M. Jacquemont, D. Cheillan, M. Renouil +29 more
2021Genetics in Medicine19 citations Open access
Semantic Scholar
Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy
Sarah Duerinckx, J. Désir, Camille Perazzolo, C. Badoer +34 more
2021Molecular Genetics & Genomic Medicine17 citations Open access
Semantic Scholar
A case of Lennox‐Gastaut syndrome in a patient with FOXG1‐related disorder
G. Terrone, T. Bienvenu, D. Germanaud, M. Barthez-Carpentier +4 more
2014Epilepsia17 citations
Semantic Scholar
How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?
Amina Boina Abdallah, Hélène Ogier de Baulny, R. Kozyraki, S. Passemard +8 more
2012Molecular Genetics and Metabolism16 citations
Semantic Scholar

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