| Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children A Barbato, T Frischer, CE Kuehni, D Snijders, I Azevedo, G Baktai, ... European Respiratory Journal 34 (6), 1264-1276, 2009 | 610 | 2009 |
| Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia L Bartoloni, JL Blouin, Y Pan, C Gehrig, AK Maiti, N Scamuffa, C Rossier, ... Proceedings of the National Academy of Sciences 99 (16), 10282-10286, 2002 | 411 | 2002 |
| DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects N Hornef, H Olbrich, J Horvath, MA Zariwala, M Fliegauf, NT Loges, ... American journal of respiratory and critical care medicine 174 (2), 120-126, 2006 | 378 | 2006 |
| Myotilin is mutated in limb girdle muscular dystrophy 1A MA Hauser, SK Horrigan, P Salmikangas, UM Torian, KD Viles, R Dancel, ... Human molecular genetics 9 (14), 2141-2147, 2000 | 360 | 2000 |
| Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations GC Schwabe, K Hoffmann, NT Loges, D Birker, C Rossier, MM De Santi, ... Human mutation 29 (2), 289-298, 2008 | 276 | 2008 |
| Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection C Foresta, A Garolla, L Bartoloni, A Bettella, A Ferlin The Journal of Clinical Endocrinology & Metabolism 90 (1), 152-156, 2005 | 226 | 2005 |
| A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy J Milasin, F Muntoni, G Maria Severini, L Bartoloni, M Vatta, M Krajinovic, ... Human Molecular Genetics 5 (1), 73-79, 1996 | 200 | 1996 |
| Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity JL Blouin, M Meeks, U Radhakrishna, AJ Sainsbury, C Gehring, ... European Journal of Human Genetics 8 (2), 109-118, 2000 | 189 | 2000 |
| Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia DJ Moore, A Onoufriadis, A Shoemark, MA Simpson, PI Zur Lage, ... The American Journal of Human Genetics 93 (2), 346-356, 2013 | 176 | 2013 |
| The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism A Ferlin, M Simonato, L Bartoloni, G Rizzo, A Bettella, T Dottorini, ... The Journal of Clinical Endocrinology & Metabolism 88 (9), 4273-4279, 2003 | 161 | 2003 |
| X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 C Olcese, MP Patel, A Shoemark, S Kiviluoto, M Legendre, HJ Williams, ... Nature communications 8 (1), 14279, 2017 | 143 | 2017 |
| Androgen receptor gene CAG and GGC repeat lengths in idiopathic male infertility A Ferlin, L Bartoloni, G Rizzo, A Roverato, A Garolla, C Foresta Molecular Human Reproduction 10 (6), 417-421, 2004 | 136 | 2004 |
| Characterization of HSFY, a novel AZFb gene on the Y chromosome with a possible role in human spermatogenesis A Tessari, E Salata, A Ferlin, L Bartoloni, ML Slongo, C Foresta Molecular human reproduction 10 (4), 253-258, 2004 | 116 | 2004 |
| Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia M Failly, L Bartoloni, A Letourneau, A Munoz, E Falconnet, C Rossier, ... Journal of medical genetics 46 (4), 281-286, 2009 | 84 | 2009 |
| Androgen receptor gene CAG and GGC repeat lengths in cryptorchidism A Ferlin, A Garolla, A Bettella, L Bartoloni, C Vinanzi, A Roverato, ... European Journal of Endocrinology 152 (3), 419-425, 2005 | 78 | 2005 |
| Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD JS Lucas, EC Adam, PM Goggin, CL Jackson, N Powles‐Glover, SH Patel, ... Human mutation 33 (3), 495-503, 2012 | 77 | 2012 |
| Preliminary structure and predictive value of attenuated negative symptoms in 22q11. 2 deletion syndrome M Schneider, M Van der Linden, B Glaser, E Rizzi, SP Dahoun, C Hinard, ... Psychiatry research 196 (2-3), 277-284, 2012 | 76 | 2012 |
| Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia L Bartoloni, JL Blouin, AK Maiti, A Sainsbury, C Rossier, C Gehrig, JX She, ... Genomics 72 (1), 21-33, 2001 | 74 | 2001 |
| DNAI1 mutations explain only 2% of primary ciliary dykinesia M Failly, A Saitta, A Muñoz, E Falconnet, C Rossier, F Santamaria, ... Respiration 76 (2), 198-204, 2008 | 62 | 2008 |
| Lack of the T54A polymorphism of the DAZL gene in infertile Italian patients L Bartoloni, C Cazzadore, A Ferlin, A Garolla, C Foresta Molecular human reproduction 10 (8), 613-615, 2004 | 51 | 2004 |
Stylianos E. AntonarakisProfessor of Genetic Medicine, University of Geneva Medical SchoolVerified email at unige.ch
