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| Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder R Segurado, SD Detera-Wadleigh, DF Levinson, CM Lewis, M Gill, ... The American Journal of Human Genetics 73 (1), 49-62, 2003 | 561 | 2003 |
| Mutations in GJB6 cause hidrotic ectodermal dysplasia J Lamartine, G Munhoz Essenfelder, Z Kibar, I Lanneluc, E Callouet, ... Nature genetics 26 (2), 142-144, 2000 | 324 | 2000 |
| Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness HS Scott, J Kudoh, M Wattenhofer, K Shibuya, A Berry, R Chrast, ... Nature genetics 27 (1), 59-63, 2001 | 289 | 2001 |
| Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1 A Bashamboo, B Ferraz-de-Souza, D Lourenço, L Lin, NJ Sebire, ... The American Journal of Human Genetics 87 (4), 505-512, 2010 | 274 | 2010 |
| The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the … U Radhakrishna, D Bornholdt, HS Scott, UC Patel, C Rossier, H Engel, ... The American Journal of Human Genetics 65 (3), 645-655, 1999 | 214 | 1999 |
| Mutation in GLI3 in postaxial polydactyly type A U Radhakrishna, A Wild, KH Grzeschik, SE Antonarakis Nature genetics 17 (3), 269-271, 1997 | 211 | 1997 |
| Y-chromosome lineages trace diffusion of people and languages in southwestern Asia L Quintana-Murci, C Krausz, T Zerjal, SH Sayar, MF Hammer, SQ Mehdi, ... The American Journal of Human Genetics 68 (2), 537-542, 2001 | 205 | 2001 |
| 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 | 192 | 2000 |
| Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13. 3 and identification of a potential second locus, on 19q13. 4 H Mehenni, JL Blouin, U Radhakrishna, SS Bhardwaj, K Bhardwaj, ... The American Journal of Human Genetics 61 (6), 1327-1334, 1997 | 181 | 1997 |
| Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32 M Gajecka, U Radhakrishna, D Winters, SK Nath, M Rydzanicz, ... Investigative ophthalmology & visual science 50 (4), 1531-1539, 2009 | 136 | 2009 |
| A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24 XJ de Mollerat, F Gurrieri, CT Morgan, E Sangiorgi, DB Everman, ... Human molecular genetics 12 (16), 1959-1971, 2003 | 134 | 2003 |
| Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion E Klopocki, S Lohan, SC Doelken, S Stricker, CW Ockeloen, ... Journal of medical genetics 49 (2), 119-125, 2012 | 109 | 2012 |
| Branchio‐oto‐renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR DJ Orten, SM Fischer, JL Sorensen, U Radhakrishna, CWRJ Cremers, ... Human mutation 29 (4), 537-544, 2008 | 103 | 2008 |
| Molecular and clinical characteristics in 46 families affected with Peutz–Jeghers syndrome H Mehenni, N Resta, G Guanti, L Mota-Vieira, A Lerner, M Peyman, ... Digestive diseases and sciences 52, 1924-1933, 2007 | 102 | 2007 |
| Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11. 23 by linkage analysis. U Radhakrishna, JL Blouin, H Mehenni, UC Patel, MN Patel, JV Solanki, ... American journal of human genetics 60 (3), 597, 1997 | 86 | 1997 |
| Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness T Ben-Yosef, M Wattenhofer, S Riazuddin, ZM Ahmed, HS Scott, J Kudoh, ... Journal of medical genetics 38 (6), 396-400, 2001 | 75 | 2001 |
| No evidence for linkage between schizophrenia and markers at chromosome 15q13–14 L Curtis, JL Blouin, U Radhakrishna, C Gehrig, VK Lasseter, P Wolyniec, ... American journal of medical genetics 88 (2), 109-112, 1999 | 72 | 1999 |
| An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11. 2–q11. 2 in a large Turkish pedigree U Radhakrishna, S Senol, H Herken, K Gucuyener, C Gehrig, JL Blouin, ... European Journal of Human Genetics 9 (1), 39-44, 2001 | 64 | 2001 |
| Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2 K Buchet-Poyau, H Mehenni, U Radhakrishna, SE Antonarakis Cytogenetic and genome research 97 (3-4), 171-178, 2002 | 61 | 2002 |
Stylianos E. AntonarakisProfessor of Genetic Medicine, University of Geneva Medical SchoolE-mail megerősítve itt: unige.ch
