WDR62 is associated with the spindle pole and is mutated in human microcephaly AK Nicholas, M Khurshid, J Désir, OP Carvalho, JJ Cox, G Thornton, ... Nature genetics 42 (11), 1010-1014, 2010 | 350 | 2010 |
Many roads lead to primary autosomal recessive microcephaly AM Kaindl, S Passemard, P Kumar, N Kraemer, L Issa, A Zwirner, ... Progress in neurobiology 90 (3), 363-383, 2010 | 266 | 2010 |
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities M Breuss, JIT Heng, K Poirier, G Tian, XH Jaglin, Z Qu, A Braun, T Gstrein, ... Cell reports 2 (6), 1554-1562, 2012 | 198 | 2012 |
Neuroprotective effects of dexmedetomidine against glutamate agonist-induced neuronal cell death are related to increased astrocyte brain-derived neurotrophic factor expression V Degos, TL charpentier, V Chhor, O Brissaud, S Lebon, ... Anesthesiology 118 (5), 1123-1132, 2013 | 197 | 2013 |
Embryonic depletion of serotonin affects cortical development T Vitalis, O Cases, S Passemard, J Callebert, JG Parnavelas European Journal of Neuroscience 26 (2), 331-344, 2007 | 167 | 2007 |
Microcephaly S Passemard, AM Kaindl, A Verloes Handbook of clinical neurology 111, 129-141, 2013 | 157 | 2013 |
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations S Passemard, L Titomanlio, M Elmaleh, A Afenjar, JL Alessandri, G Andria, ... Neurology 73 (12), 962-969, 2009 | 134 | 2009 |
ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53 VE Ghouzzi, FT Bianchi, I Molineris, BC Mounce, GE Berto, M Rak, ... Cell death & disease 7 (10), e2440-e2440, 2016 | 123 | 2016 |
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features AN Lamb, JA Rosenfeld, NJ Neill, ME Talkowski, I Blumenthal, S Girirajan, ... Human mutation 33 (4), 728-740, 2012 | 119 | 2012 |
Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia D Hervé, A Philippi, R Belbouab, M Zerah, S Chabrier, ... The American Journal of Human Genetics 94 (3), 385-394, 2014 | 113 | 2014 |
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, A Rastetter, S Passemard, ... Human genetics 136, 463-479, 2017 | 86 | 2017 |
A framework to identify contributing genes in patients with Phelan-McDermid syndrome AC Tabet, T Rolland, M Ducloy, J Lévy, J Buratti, A Mathieu, D Haye, ... NPJ genomic medicine 2 (1), 32, 2017 | 83 | 2017 |
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A LM Bronicki, C Redin, S Drunat, A Piton, M Lyons, S Passemard, ... European Journal of Human Genetics 23 (11), 1482-1487, 2015 | 80 | 2015 |
ARCN1 mutations cause a recognizable craniofacial syndrome due to COPI-mediated transport defects K Izumi, M Brett, E Nishi, S Drunat, ES Tan, K Fujiki, S Lebon, B Cham, ... The American Journal of Human Genetics 99 (2), 451-459, 2016 | 74 | 2016 |
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly P Boonsawat, P Joset, K Steindl, B Oneda, L Gogoll, S Azzarello-Burri, ... Genetics in Medicine 21 (9), 2043-2058, 2019 | 71 | 2019 |
Primary autosomal recessive microcephalies and seckel syndrome spectrum disorders–retired chapter, for historical reference only A Verloes, S Drunat, P Gressens, S Passemard | 70 | 2013 |
Mutations in citron kinase cause recessive microlissencephaly with multinucleated neurons BN Harding, A Moccia, S Drunat, O Soukarieh, H Tubeuf, LS Chitty, ... The American Journal of Human Genetics 99 (2), 511-520, 2016 | 69 | 2016 |
Autosomal recessive primary microcephaly due to ASPM mutations: An update P Létard, S Drunat, Y Vial, S Duerinckx, A Ernault, D Amram, S Arpin, ... Human mutation 39 (3), 319-332, 2018 | 67 | 2018 |
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy S Scheidecker, C Etard, L Haren, C Stoetzel, S Hull, G Arno, V Plagnol, ... The American Journal of Human Genetics 96 (4), 666-674, 2015 | 66 | 2015 |
Further delineation of the 17p13. 3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients M Schiff, A Delahaye, J Andrieux, D Sanlaville, C Vincent-Delorme, ... European journal of medical genetics 53 (5), 303-308, 2010 | 51 | 2010 |