SPECIALITY SCHOOL IN MEDICAL GENETICS

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readings selected by Romano Tenconi

skeletal dysplasia archives by Giuseppe Canepa

BOOKS


William L Nyhan, Bruce A Barshop, Pinar T. Ozand Atlas of Metabolic Diseases Hodder Arnold



Peter S Harper Practical Genetic Counselling CRC Press



David L. Rimoin, Reed E. Pyeritz and Bruce Korf Emery and Rimoin's Principles and Practice of Medical Genetics Elsevier ed.
Hodgson, S.V., Foulkes, W.D., Eng, C., Maher, E.R. A Practical Guide to Human Cancer Genetics Springer



Andrew Read, Dian Donnai Genetica Clinica Zanichelli ed.

Giovanni Neri, Maurizio Genuardi Genetica umana e medica Elsevier ed.

William Reardon The Bedside Dysmorphologist


Suzanne B. Cassidy, Judith E. Allanson Management of Genetic Syndromes Wiley ed.


David L. Rimoin, J. Michael Connor, Reed E. Pyeritz, Bruce R. Korf Principles and Practice of Medical Genetics 3 volume set Churchill Livingstone ed.


Kenneth L. Jones, David W. Smiths Smith's Recognizable Patterns Of Human Malformation W.B. Saunders Company ed.


Charles R. Scriver, Arthur L. Beaudet, William S. Sly, David Valle, Barton Childs, Kenneth W. Kinzler, Bert Vogelstein The Metabolic and Molecular Bases of Inherited Disease 4 volume set McGraw-Hill ed.


Alan E. Guttmacher, Francis S. Collins, Jeffrey M. Drazen Genomic Medicine The John Hopkins University Press ed., The New England Journal of Medicine

PAPERS

Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative. Kashtan CE, Ding J, Gregory M, Gross O, Heidet L, Knebelmann B, Rheault M, Licht C. Pediatr Nephrol. 2013 Jan;28(1):5-11. doi: 10.1007/s00467-012-2138-4. Epub 2012 Mar 30.	MCQs

Origins and functional impact of copy number variation in the human genome. Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J; Wellcome Trust Case Control Consortium, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME. Nature. 2010 Apr 1;464(7289):704-12. doi: 10.1038/nature08516. Epub 2009 Oct 7.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

A de novo paradigm for mental retardation. Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA. Nat Genet. 2010 Dec;42(12):1109-12. doi: 10.1038/ng.712. Epub 2010 Nov 14.

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE. Nat Genet. 2011 Jun;43(6):585-9. doi: 10.1038/ng.835. Epub 2011 May 15. Erratum in: Nat Genet. 2012 Apr;44(4):471.

Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.

Patterns and rates of exonic de novo mutations in autism spectrum disorders. Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Nature. 2012 Apr 4;485(7397):242-5. doi: 10.1038/nature11011.

De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945.

Diagnostic exome sequencing in persons with severe intellectual disability. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3.

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. Xu B, Ionita-Laza I, Roos JL, Boone B, Woodrick S, Sun Y, Levy S, Gogos JA, Karayiorgou M. Nat Genet. 2012 Dec;44(12):1365-9. doi: 10.1038/ng.2446. Epub 2012 Oct 3.