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Jacques Beckmann, founder and ex-director of the DGM

   

Jacques Beckmann has been involved in various aspects of genetics since 1980 and of human genetics since 1990. In the 1980s, he pioneered the use of marker-assisted genetic improvement in plants and animals, focusing on Quantitative Trait Loci (QTLs). His interest shifted in 1990 to human genetics with a move to Paris, where he held successively senior research positions at the CEPH, Généthon (Evry, after 1995), and finally the Centre National de Génotypage (CNG, Evry) as Deputy-Director. In August 2000, he joined as Full Professor the Department of Molecular Genetics at the Weizmann Institute of Science in Rehovot, Israel, and from October 2001 to October 2012 he was the Director of both the Hospital's Service and University's Department of Medical Genetics in Lausanne.

Since December 2012, He is now head of Clinical Bioinformatics at SIB Swiss Institute of Bioinformatics.

 

 

Research summary

His main research interests go from the elucidation of the genetic etiology of monogenic inherited traits, to that of complex traits in humans or experimental model systems, with a particular interest in genomic disorders. Recent work on the 16p11.2 deletions and duplications highlight these interests.

Representative publications (complete list of publications)

Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S, Reymond A, Sun M, Sawa A, Gusella JF, Kamiya A, Beckmann JS, Katsanis N. (2012). KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature 485(7398):363-7.

 Salvi E, Kutalik Z, Glorioso N, Benaglio P, Frau F, Kuznetsova T, Arima H, Hoggart C, Tichet J, Nikitin YP, Conti C, Seidlerova J, Tikhonoff V, Stolarz-Skrzypek K, Johnson T, Devos N, Zagato L, Guarrera S, Zaninello R, Calabria A, Stancanelli B, Troffa C, Thijs L, Rizzi F, Simonova G, Lupoli S, Argiolas G, Braga D, D'Alessio MC, Ortu MF, Ricceri F, Mercurio M, Descombes P, Marconi M, Chalmers J, Harrap S, Filipovsky J, Bochud M, Iacoviello L, Ellis J, Stanton AV, Laan M, Padmanabhan S, Dominiczak AF, Samani NJ, Melander O, Jeunemaitre X, Manunta P, Shabo A, Vineis P, Cappuccio FP, Caulfield MJ, Matullo G, Rivolta C, Munroe PB, Barlassina C, Staessen JA, Beckmann JS, Cusi D. (2012). Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase. Hypertension 59(2):48-55.

International Consortium for Blood Pressure Genome-Wide Association Studies, Ehret GB, Munroe PB, Rice KM, Bochud M, Johnson AD, Chasman DI, Smith AV, Tobin MD, Verwoert GC, Hwang SJ, Pihur V, Vollenweider P, O'Reilly PF, Amin N, Bragg-Gresham JL, Teumer A, Glazer NL, Launer L, Zhao JH, Aulchenko Y, Heath S, Sõber S, Parsa A, Luan J, Arora P, Dehghan A, Zhang F, Lucas G, Hicks AA, Jackson AU, Peden JF, Tanaka T, Wild SH, Rudan I, Igl W, Milaneschi Y, Parker AN, Fava C, Chambers JC, Fox ER, Kumari M, Go MJ, van der Harst P, Kao WH, Sjögren M, Vinay DG, Alexander M, Tabara Y, Shaw-Hawkins S, Whincup PH, Liu Y, Shi G, Kuusisto J, Tayo B, Seielstad M, Sim X, Nguyen KD, Lehtimäki T, Matullo G, Wu Y, Gaunt TR, Onland-Moret NC, Cooper MN, Platou CG, Org E, Hardy R, Dahgam S, Palmen J, Vitart V, Braund PS, Kuznetsova T, Uiterwaal CS, Adeyemo A, Palmas W, Campbell H, Ludwig B, Tomaszewski M, Tzoulaki I, Palmer ND; CARDIoGRAM consortium; CKDGen Consortium; KidneyGen Consortium; EchoGen consortium; CHARGE-HF consortium, Aspelund T, Garcia M, Chang YP, O'Connell JR, Steinle NI, Grobbee DE, Arking DE, Kardia SL, Morrison AC, Hernandez D, Najjar S, McArdle WL, Hadley D, Brown MJ, Connell JM, Hingorani AD, Day IN, Lawlor DA, Beilby JP, Lawrence RW, Clarke R, Hopewell JC, Ongen H, Dreisbach AW, Li Y, Young JH, Bis JC, Kähönen M, Viikari J, Adair LS, Lee NR, Chen MH, Olden M, Pattaro C, Bolton JA, Köttgen A, Bergmann S, Mooser V, Chaturvedi N, Frayling TM, Islam M, Jafar TH, Erdmann J, Kulkarni SR, Bornstein SR, Grässler J, Groop L, Voight BF, Kettunen J, Howard P, Taylor A, Guarrera S, Ricceri F, Emilsson V, Plump A, Barroso I, Khaw KT, Weder AB, Hunt SC, Sun YV, Bergman RN, Collins FS, Bonnycastle LL, Scott LJ, Stringham HM, Peltonen L, Perola M, Vartiainen E, Brand SM, Staessen JA, Wang TJ, Burton PR, Artigas MS, Dong Y, Snieder H, Wang X, Zhu H, Lohman KK, Rudock ME, Heckbert SR, Smith NL, Wiggins KL, Doumatey A, Shriner D, Veldre G, Viigimaa M, Kinra S, Prabhakaran D, Tripathy V, Langefeld CD, Rosengren A, Thelle DS, Corsi AM, Singleton A, Forrester T, Hilton G, McKenzie CA, Salako T, Iwai N, Kita Y, Ogihara T, Ohkubo T, Okamura T, Ueshima H, Umemura S, Eyheramendy S, Meitinger T, Wichmann HE, Cho YS, Kim HL, Lee JY, Scott J, Sehmi JS, Zhang W, Hedblad B, Nilsson P, Smith GD, Wong A, Narisu N, Stančáková A, Raffel LJ, Yao J, Kathiresan S, O'Donnell CJ, Schwartz SM, Ikram MA, Longstreth WT Jr, Mosley TH, Seshadri S, Shrine NR, Wain LV, Morken MA, Swift AJ, Laitinen J, Prokopenko I, Zitting P, Cooper JA, Humphries SE, Danesh J, Rasheed A, Goel A, Hamsten A, Watkins H, Bakker SJ, van Gilst WH, Janipalli CS, Mani KR, Yajnik CS, Hofman A, Mattace-Raso FU, Oostra BA, Demirkan A, Isaacs A, Rivadeneira F, Lakatta EG, Orru M, Scuteri A, Ala-Korpela M, Kangas AJ, Lyytikäinen LP, Soininen P, Tukiainen T, Würtz P, Ong RT, Dörr M, Kroemer HK, Völker U, Völzke H, Galan P, Hercberg S, Lathrop M, Zelenika D, Deloukas P, Mangino M, Spector TD, Zhai G, Meschia JF, Nalls MA, Sharma P, Terzic J, Kumar MV, Denniff M, Zukowska-Szczechowska E, Wagenknecht LE, Fowkes FG, Charchar FJ, Schwarz PE, Hayward C, Guo X, Rotimi C, Bots ML, Brand E, Samani NJ, Polasek O, Talmud PJ, Nyberg F, Kuh D, Laan M, Hveem K, Palmer LJ, van der Schouw YT, Casas JP, Mohlke KL, Vineis P, Raitakari O, Ganesh SK, Wong TY, Tai ES, Cooper RS, Laakso M, Rao DC, Harris TB, Morris RW, Dominiczak AF, Kivimaki M, Marmot MG, Miki T, Saleheen D, Chandak GR, Coresh J, Navis G, Salomaa V, Han BG, Zhu X, Kooner JS, Melander O, Ridker PM, Bandinelli S, Gyllensten UB, Wright AF, Wilson JF, Ferrucci L, Farrall M, Tuomilehto J, Pramstaller PP, Elosua R, Soranzo N, Sijbrands EJ, Altshuler D, Loos RJ, Shuldiner AR, Gieger C, Meneton P, Uitterlinden AG, Wareham NJ, Gudnason V, Rotter JI, Rettig R, Uda M, Strachan DP, Witteman JC, Hartikainen AL, Beckmann JS, Boerwinkle E, Vasan RS, Boehnke M, Larson MG, Järvelin MR, Psaty BM, Abecasis GR, Chakravarti A, Elliott P, van Duijn CM, Newton-Cheh C, Levy D, Caulfield MJ, Johnson T. (2011). Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 478(7367):103-9.

Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P. (2011). Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 478(7367):97-102.

Kilpeläinen TO, Zillikens MC, Stančákova A, Finucane FM, Ried JS, Langenberg C, Zhang W, Beckmann JS, Luan J, Vandenput L, Styrkarsdottir U, Zhou Y, Smith AV, Zhao JH, Amin N, Vedantam S, Shin SY, Haritunians T, Fu M, Feitosa MF, Kumari M, Halldorsson BV, Tikkanen E, Mangino M, Hayward C, Song C, Arnold AM, Aulchenko YS, Oostra BA, Campbell H, Cupples LA, Davis KE, Döring A, Eiriksdottir G, Estrada K, Fernández-Real JM, Garcia M, Gieger C, Glazer NL, Guiducci C, Hofman A, Humphries SE, Isomaa B, Jacobs LC, Jula A, Karasik D, Karlsson MK, Khaw KT, Kim LJ, Kivimäki M, Klopp N, Kühnel B, Kuusisto J, Liu Y, Ljunggren O, Lorentzon M, Luben RN, McKnight B, Mellström D, Mitchell BD, Mooser V, Moreno JM, Männistö S, O'Connell JR, Pascoe L, Peltonen L, Peral B, Perola M, Psaty BM, Salomaa V, Savage DB, Semple RK, Skaric-Juric T, Sigurdsson G, Song KS, Spector TD, Syvänen AC, Talmud PJ, Thorleifsson G, Thorsteinsdottir U, Uitterlinden AG, van Duijn CM, Vidal-Puig A, Wild SH, Wright AF, Clegg DJ, Schadt E, Wilson JF, Rudan I, Ripatti S, Borecki IB, Shuldiner AR, Ingelsson E, Jansson JO, Kaplan RC, Gudnason V, Harris TB, Groop L, Kiel DP, Rivadeneira F, Walker M, Barroso I, Vollenweider P, Waeber G, Chambers JC, Kooner JS, Soranzo N, Hirschhorn JN, Stefansson K, Wichmann HE, Ohlsson C, O'Rahilly S, Wareham NJ, Speliotes EK, Fox CS, Laakso M, Loos RJ. (2011). Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nature Genetics 43, 753–760.

Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chèvre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP, Dupuis-Girod S, Labalme A, Sanlaville D, Béri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sjöström L, Huang N, Hurles ME, O'Rahilly S, Farooqi IS, Männik K, Jarvelin MR, Pattou F, Meyre D, Walley AJ, Coin LJ, Blakemore AI, Froguel P, Beckmann JS. (2010). A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature. 463(7281): 671-5.

Beckmann JS, Spencer M. (2008). Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance. Neuromuscul Disord. 18(12): 913-21.

Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, Berndt SI; The Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial, Jacobs KB, Chanock SJ, Hayes RB, Bergmann S, Bennett AJ, Bingham SA, Bochud M, Brown M, Cauchi S, Connell JM, Cooper C, Smith GD, Day I, Dina C, De S, Dermitzakis ET, Doney AS, Elliott KS, Elliott P, Evans DM, Sadaf Farooqi I, Froguel P, Ghori J, Groves CJ, Gwilliam R, Hadley D, Hall AS, Hattersley AT, Hebebrand J, Heid IM; KORA, Lamina C, Gieger C, Illig T, Meitinger T, Wichmann HE, Herrera B, Hinney A, Hunt SE, Jarvelin MR, Johnson T, Jolley JD, Karpe F, Keniry A, Khaw KT, Luben RN, Mangino M, Marchini J, McArdle WL, McGinnis R, Meyre D, Munroe PB, Morris AD, Ness AR, Neville MJ, Nica AC, Ong KK, O'Rahilly S, Owen KR, Palmer CN, Papadakis K, Potter S, Pouta A, Qi L; Nurses' Health Study, Kraft P, Hankinson SE, Hunter DJ, Hu FB, Randall JC, Rayner NW, Ring SM, Sandhu MS, Scherag A, Sims MA, Song K, Soranzo N, Speliotes EK; Diabetes Genetics Initiative, Lyon HN, Voight BF, Ridderstrale M, Groop L, Syddall HE, Teichmann SA, Timpson NJ, Tobias JH, Uda M; The SardiNIA Study, Scheet P, Sanna S, Abecasis GR, Albai G, Nagaraja R, Schlessinger D, Ganz Vogel CI, Wallace C, Waterworth DM, Weedon MN; The Wellcome Trust Case Control Consortium, Willer CJ; FUSION, Jackson AU, Tuomilehto J, Collins FS, Boehnke M, Mohlke KL, Wraight VL, Yuan X, Zeggini E, Hirschhorn JN, Strachan DP, Ouwehand WH, Caulfield MJ, Samani NJ, Frayling TM, Vollenweider P, Waeber G, Mooser V, Deloukas P, McCarthy MI, Wareham NJ, Barroso I. (2008). Association studies involving over 90,000 samples demonstrate that common variants near to MC4R influence fat mass, weight and risk of obesity. Nat Genetics 40(6): 768-75.

Beckmann JS, Estivill X, Antonarakis SE. (2007). Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet. 8(8): 639-46.

Antonarakis SE and Beckmann JS. Mendelian Disorders deserve more attention (2006). Nature Rev Genet. 7(4): 277-82.

Prilusky J, Felder CE, Zeev-Ben-Mordehai T, Rydberg E, Man O, Beckmann JS, Silman I, Sussman JL. (2005). FoldIndex(C): a simple tool to predict whether a given protein sequence is intrinsically unfolded. Bioinformatics 21(16): 3435-8.

Baghdiguian S., M Martin, I Richard, F Pons, C Astier, N Bourg, R T Hay, R Chemaly, G Halaby, J Loiselet, L V B Anderson, A L D Munain, M Fardeau, P Mangeat, J S Beckmann and G Lefranc (1999). Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IB/NF-B pathway in limb-girdle muscular dystrophy type 2A. Nature Medecine 5 (5): 503-511.

Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira E de S, Zatz M, Beckmann JS, Bushby K (1998). A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat. Genet. 20(1): 37-42.

Deloukas P., G.D. Schuler, G. Gyapay, E.M. Beasley, C. Soderlund, P. Rodriguez-Tome, L. Hui, T.C. Matise, K.B. McKusick, J.S. Beckmann, S. Bentolila, M.-T. Bihoreau, B.B. Birren, J. Browne, A. Butler, A.B.Castle, N. Chiannilkulchai, C. Clee, P. J.R. Day, A. Dehejia, T. Dibling, N. Drouot, S. Duprat, C. Fizames, S. Fox, S. Gelling, L. Green, P. Harison, R. Hocking, E. Holloway, S. Hunt, S. Keil, P. Lijnzaad, C. Louis-Dit-Sully, J. Ma, A. Mendis, J. Miller, J. Morissette, D. Muselet, H.C. Nusbaum, A. Peck, S. Rozen, D. Simon, D.K. Slonim, R.Staples, L.D. Stein, E. A. Stewart, M.A. Suchard, T. Thangarajah, N. Vega-Czarny, C. Webber, X. Wu, C. Auffray, N. Nomura, J. M. Sikela, M.H. Polymeropoulos, M.R. James, E.S. Lander, T.J. Hudson, R.M. Myers, D.R. Cox, J. Weissenbach, M.S. Boguski, D.R. Bentley (1998). A physical map of 30,000 human genes. Science 282: 744-746.

Varfolomeev E. E., M. Schuchmann, V. Luria, N. Chiannilkulchai, J.S. Beckmann, I.L. Mett, D. Rebrikov, V.M. Brodianski, O.C. Kemper, O. Kollet, T. Lapidot, D. Soffer, T. Sobe, K.B. Avraham, T. Goncharov, H. Holtmann, P. Lonai, and D. Wallach (1998). Targeted Disruption of the Mouse Caspase 8 Gene Ablates Cell Death Induction by the TNF Receptors, Fas/Apo1, and DR3 and Is Lethal Prenatally. Immunity 9 (2): 267-276.

Richard I., L. Brenguier, P. Dinçer, C. Roudaut, B. Bady, J.-M. Burgunder, R. Chemaly, C.A. Garcia, G. Halaby, C.E. Jackson, D.M. Kurnit, G. Lefranc, C. Legum, J. Loiselet, L. Merlini, A. Nivelon-Chevallier, E. Ollagnon-Roman, G. Restagno, H. Topaloglu and J.S. Beckmann (1997). Multiple Independent Molecular Etiology for Limb Girdle Muscular Dystrophy Type 2A Patients from Various Geographical Origins. Am. J. Hum. Genet. 60: 1128-1138.

Schuler, G.D., M.S. Boguski, E.A. Stewart, L.D. Stein, G. Gyapay, K. Rice, R.E. White, P. Rodriguez-Tome, A. Aggarwal, E. Bajorek, S. Bentolila, B.B. Birren, A. Butler, A.B. Castle, N. Chiannilkulchai, A. Chu, C. Clee, S. Cowles, P.J.R. Day, T. Dibling, N. Drouot, I. Dunham, S. Duprat, C. East, C. Edwards, J.-B. Fan, N. Fang, C. Fizames, C. Garrett, L. Green, D. Hadley, M. Harris, P. Harrison, S. Hebert, A. Hicks, E. Holloway, L. Hui, S. Hussain, C. Louis-Dit-Sully, J. Ma, A. MacGilvery, C. Mader, A. Maratukulum, T.C. Matise, K.B. McKusick, J. Morissette, A. Mungall, D. Muselet, H.C. Nusbaum, D.C. Page, A. Peck, S. Perkins, M. Piercy, F. Qin, J. Quackenbush, S. Ranby, T. Reif, S. Rozen, C. Sanders, X. She, J. Silva, D.K. Slonim, C. Soderlund, W.-L. Sun, P. Tabar, T. Thangarajah, N. Vega-Czarny, D. Vollrath, S. Voyticky, T. Wilmer, X. Wu, M.D. Adams, C. Auffray, R. Berry, R. Brandon, A. Dehejia, P.N. Goodfellow, R. Houlgatte, J.R. Hudson Jr, S.E. Ide, K.R. Iorio, K. Ishikawa, W.Y. Lee, T. Nagase, N. Nomura, C. Phillips, M.H. Polymeropoulos, M. Sandusky , K. Schmitt, N. Seki, J.M. Sikela, K. Swanson, R. Torres, J.C. Venter, N.A.R. Walter, J. S. Beckmann, J. Weissenbach, R.M. Myers, D.R. Cox, M.R. James, D. Bentley, P. Deloukas, E.S. Lander and T.J. Hudson (1996). A Gene Map of the Human Genome. Science 274: 540-546.

Lim, L.E., F. Duclos, O. Broux, N. Bourg, Y. Sunada, V. Allamand, J. Meyer, I. Richard, C. Moomaw, C. Slaughter, F.M.S. Tomé, M. Fardeau, C.E. Jackson, J.S. Beckmann and K.P. Campbell (1995). ß-Sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nature Genetics 11: 257-265.

Richard, I and J.S. Beckmann (1995). How neutral are synonymous codon mutations. Nature Genetics 10: 259.

Richard, I., O. Broux, V. Allamand, F. Fougerousse, N. Chiannilkuchaï, N. Bourg, L. Brenguier, C. Devaud, P. Pasturaud, C. Roudaut, D. Hillaire, M.-R. Passos-Bueno, M. Zatz, J.A. Tischfield, M. Fardeau, C.E. Jackson, D. Cohen and J.S. Beckmann (1995). A novel mechanism leading to muscular dystrophy: mutations in calpain 3 cause limb girdle muscular dystrophy type 2A. Cell 81: 27-40.


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