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12 Article(s) on File
Page 1 of 1
The contribution of de novo coding mutations to autism spectrum disorder
Iossifov I,
ORoak BJ,
Sanders SJ,
Ronemus M,
Krumm N,
Levy D,
Stessman HA,
Witherspoon KT,
Vives L,
Patterson KE,
Smith JD,
Paeper B,
Nickerson DA,
Dea J,
Dong S,
Gonzalez LE,
Mandell JD,
Mane SM,
Murtha MT,
Sullivan CA,
Walker MF,
Waqar Z,
Wei L,
Willsey AJ,
Yamrom B,
Lee YH,
Grabowska E,
Dalkic E,
Wang Z,
Marks S,
Andrews P,
Leotta A,
Kendall J,
Hakker I,
Rosenbaum J,
Ma B,
Rodgers L,
Troge J,
Narzisi G,
Yoon S,
Schatz MC,
Ye K,
McCombie WR,
Shendure J,
Eichler EE,
State MW,
Wigler M

Nature
  515 (7526): 2160-U136; Nov 13 2014   NLM
[Abstract]
[DOI] [Full Text]

Accurate de novo and transmitted indel detection in exome-capture data using microassembly
Narzisi G,
ORawe JA,
Iossifov I,
Fang H,
Lee Yh,
Wang Z,
Wu Y,
Lyon GJ,
Wigler M,
Schatz MC

Nature Methods
  11 (10): 1033-1036; Oct 2014   NLM
[Abstract]
[DOI] [Full Text]

Rare De Novo Germline Copy-Number Variation in Testicular Cancer
Stadler ZK,
Esposito D,
Shah S,
Vijai J,
Yamrom B,
Levy D,
Lee YH,
Kendall J,
Leotta A,
Ronemus M,
Hansen N,
Sarrel K,
Rau-Murthy R,
Schrader K,
Kauff N,
Klein R,
Lipkin S,
Murali R,
Robson M,
Sheinfeld J,
Feldman D,
Bosl G,
Norton L,
Wigler M,
Offit K

The American Journal of Human Genetics
  91 (2): 379-383; Aug 10 2012  
[Abstract]
[DOI] [Full Text]

The tomato genome sequence provides insights into fleshy fruit evolution
Sato S,
Tabata S,
Hirakawa H,
Asamizu E,
Shirasawa K,
Isobe S,
Kaneko T,
Nakamura Y,
Shibata D,
Aoki K,
Egholm M,
Knight J,
Bogden R,
Li CB,
Shuang Y,
Xu X,
Pan SK,
Cheng SF,
Liu X,
Ren YY,
Wang J,
Albiero A,
Dal Pero F,
Todesco S,
Van Eck J,
Buels RM,
Bombarely A,
Gosselin JR,
Huang MY,
Leto JA,
Menda N,
Strickler S,
Mao LY,
Gao S,
Tecle IY,
York T,
Zheng Y,
Vrebalov JT,
Lee J,
Zhong SL,
Mueller LA,
Stiekema WJ,
Ribeca P,
Alioto T,
Yang WC,
Huang SW,
Du YC,
Zhang ZH,
Gao JC,
Guo YM,
Wang XX,
Li Y,
He J,
Li CY,
Cheng ZK,
Zuo JR,
Ren JF,
Zhao JH,
Yan LH,
Jiang HL,
Wang B,
Li HS,
Li ZJ,
Fu FY,
Chen BT,
Han B,
Feng Q,
Fan DL,
Wang Y,
Ling HQ,
Xue YB,
Ware D,
McCombie WR,
Lippman ZB,
Chia JM,
Jiang K,
Pasternak S,
Gelley L,
Kramer M,
Anderson LK,
Chang SB,
Royer SM,
Shearer LA,
Stack SM,
Rose JK,
Xu YM,
Eannetta N,
Matas AJ,
McQuinn R,
Tanksley SD,
Camara F,
Guigo R,
Rombauts S,
Fawcett J,
Van de Peer Y,
Zamir D,
Liang CB,
Spannagl M,
Gundlach H,
Bruggmann R,
Mayer K,
Jia ZQ,
Zhang JH,
Ye ZB,
Bishop GJ,
Butcher S,
Lopez-Cobollo R,
Buchan D,
Filippis I,
Abbott J,
Dixit R,
Singh M,
Singh A,
Pal JK,
Pandit A,
Singh PK,
Mahato AK,
Dogra V,
Gaikwad K,
Sharma TR,
Mohapatra T,
Singh NK,
Causse M,
Rothan C,
Schiex T,
Noirot C,
Bellec A,
Klopp C,
Delalande C,
Berges H,
Mariette J,
Frasse P,
Vautrin S,
Zouine M,
Latche A,
Rousseau C,
Regad F,
Pech JC,
Philippot M,
Bouzayen M,
Pericard P,
Osorio S,
del Carmen AF,
Monforte A,
Granell A,
Fernandez-Munoz R,
Conte M,
Lichtenstein G,
Carrari F,
De Bellis G,
Fuligni F,
Peano C,
Grandillo S,
Termolino P,
Pietrella M,
Fantini E,
Falcone G,
Fiore A,
Giuliano G,
Lopez L,
Facella P,
Perrotta G,
Daddiego L,
Bryan G,
Orozco M,
Pastor X,
Torrents D,
van Schriek K,
Feron RM,
van Oeveren J,
de Heer P,
daPonte L,
Jacobs-Oomen S,
Cariaso M,
Prins M,
van Eijk MJ,
Janssen A,
van Haaren MJ,
Jo SH,
Kim J,
Kwon SY,
Kim S,
Koo DH,
Lee S,
Hur CG,
Clouser C,
Rico A,
Hallab A,
Gebhardt C,
Klee K,
Jocker A,
Warfsmann J,
Gobel U,
Kawamura S,
Yano K,
Sherman JD,
Fukuoka H,
Negoro S,
Bhutty S,
Chowdhury P,
Chattopadhyay D,
Datema E,
Smit S,
Schijlen EW,
van de Belt J,
van Haarst JC,
Peters SA,
van Staveren MJ,
Henkens MH,
Mooyman PJ,
Hesselink T,
van Ham R,
Jiang GY,
Droege M,
Choi D,
Kang BC,
Kim BD,
Park M,
Yeom SI,
Lee YH,
Choi YD,
Li GC,
Gao JW,
Liu YS,
Huang SX,
Fernandez-Pedrosa V,
Collado C,
Zuniga S,
Wang GP,
Cade R,
Dietrich RA,
Rogers J,
Knapp S,
Fei ZJ,
White RA,
Thannhauser TW,
Giovannoni JJ,
Botella MA,
Gilbert L,
Gonzalez R,
Goicoechea JL,
Yu Y,
Kudrna D,
Collura K,
Wissotski M,
Wing R,
Schoof H,
Meyers BC,
Gurazada AB,
Green PJ,
Mathur S,
Vyas S,
Solanke AU,
Kumar R,
Gupta V,
Sharma AK,
Khurana P,
Khurana JP,
Tyagi AK,
Dalmay T,
Mohorianu I,
Walts B,
Chamala S,
Barbazuk WB,
Li JP,
Guo H,
Lee TH,
Wang YP,
Zhang D,
Paterson AH,
Wang XY,
Tang HB,
Barone A,
Chiusano ML,
Ercolano MR,
DAgostino N,
Di Filippo M,
Traini A,
Sanseverino W,
Frusciante L,
Seymour GB,
Elharam M,
Fu Y,
Hua A,
Kenton S,
Lewis J,
Lin SP,
Najar F,
Lai HS,
Qin BF,
Qu CM,
Shi RH,
White D,
White J,
Xing YB,
Yang KQ,
Yi J,
Yao ZY,
Zhou LP,
Roe BA,
Vezzi A,
DAngelo M,
Zimbello R,
Schiavon R,
Caniato E,
Rigobello C,
Campagna D,
Vitulo N,
Valle G,
Nelson DR,
De Paoli E,
Szinay D,
de Jong HH,
Bai YL,
Visser RG,
Lankhorst RM,
Beasley H,
McLaren K,
Nicholson C,
Riddle C,
Gianese G

Nature
  485 (7400): 635-641; May 2012  
[Abstract]
[DOI] [Full Text]

De novo gene disruptions in children on the autistic spectrum
Iossifov I,
Ronemus M,
Levy D,
Wang Z,
Hakker I,
Rosenbaum J,
Yamrom B,
Lee YH,
Narzisi G,
Leotta A,
Kendall J,
Grabowska E,
Ma B,
Marks S,
Rodgers L,
Stepansky A,
Troge J,
Andrews P,
Bekritsky M,
Pradhan K,
Ghiban E,
Kramer M,
Parla J,
Demeter R,
Fulton LL,
Fulton RS,
Magrini VJ,
Ye K,
Darnell JC,
Darnell RB,
Mardis ER,
Wilson RK,
Schatz MC,
McCombie WR,
Wigler M

Neuron
  74 (2): 285-99; Apr 26 2012   Nlm
[Abstract]
[DOI] [Full Text]

Reducing system noise in copy number data using principal components of self-self hybridizations
Lee YH,
Ronemus M,
Kendall J,
Lakshmi B,
Leotta A,
Levy D,
Esposito D,
Grubor V,
Ye K,
Wigler M,
Yamrom B

Proceedings of the National Academy of Sciences of the United States of America
  109 (3): E103-E110; Jan 2012  
[Abstract]
[DOI] [Full Text]

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
Levy D,
Ronemus M,
Yamrom B,
Lee YH,
Leotta A,
Kendall JT,
Marks S,
Lakshmi B,
Pai D,
Ye K,
Buja A,
Krieger A,
Yoon S,
Troge JE,
Rodgers ,
Iossifov I,
Wigler MH

Neuron
  70 (5): 886-897; Jun 8 2011  
[Abstract]
[DOI]

Microduplications of 16p11.2 are associated with schizophrenia
McCarthy SE,
Makarov V,
Kirov G,
Addington AM,
McClellan J,
Yoon S,
Perkins DO,
Dickel DE,
Kusenda M,
Krastoshevsky O,
Krause V,
Kumar RA,
Grozeva D,
Malhotra D,
Walsh T,
Zackai EH,
Kaplan P,
Ganesh J,
Krantz ID,
Spinner NB,
Roccanova P,
Bhandari A,
Pavon K,
Lakshmi B,
Leotta A,
Kendall JT,
Lee YH,
Vacic V,
Gary S,
Iakoucheva LM,
Crow TJ,
Christian SL,
Lieberman JA,
Stroup TS,
Lehtimaki T,
Puura K,
Haldeman-Englert C,
Pearl J,
Goodell M,
Willour VL,
DeRosse P,
Steele J,
Kassem L,
Wolff J,
Chitkara N,
McMahon FJ,
Malhotra AK,
Potash JB,
Schulze TG,
Nothen MM,
Cichon S,
Rietschel M,
Leibenluft E,
Kustanovich V,
Lajonchere CM,
Sutcliffe JS,
Skuse D,
Gill M,
Gallagher L,
Mendell NR,
Craddock N,
Owen MJ,
ODonovan MC,
Shaikh TH,
Susser E,
DeLisi LE,
Sullivan PF,
Deutsch CK,
Rapoport J,
Levy DL,
King MC,
Sebat J

Nature Genetics
  41 (11): 1223-1227; Nov 2009   PMCID: PMC2951180
[Abstract]
[DOI] [Full Text] [PDF]

Novel genomic alterations and clonal evolution in chronic lymphocytic leukemia revealed by representational oligonucleotide microarray analysis (ROMA)
Grubor V,
Krasnitz A,
Troge JE,
Meth JL,
Lakshmi B,
Kendall JT,
Yamrom B,
Alex G,
Pai D,
Navin NE,
Hufnagel LA,
Lee YH,
Cook K,
Allen SL,
Rai KR,
Damle RN,
Calissano C,
Chiorazzi N,
Wigler MH,
Esposito D

Blood
  113 (6): 1294-1303; Feb 5 2009  
[Abstract]
[DOI] [Full Text] [PDF]

High-Resolution Array-Based Comparative Genome Hybridization (CGH) Identifies Novel and Recurrent Regions in CLL
Grubor V,
Krasnitz A,
Troge JE,
Meth JL,
Lakshmi B,
Kendall JT,
Yamrom B,
Alex G,
Pai D,
Navin NE,
Hufnagel LA,
Lee YH,
Cook K,
Allen SL,
Rai KR,
Damle R,
Calissano C,
Chiorazzi N,
Wigler MH,
Esposito D

Blood
  112 (11): 717-717; Nov 2008  
[Abstract]
[Full Text]

Strong Association of De Novo Copy Number Mutations with Autism
Sebat J,
Lakshmi B,
Malhotra D,
Troge JE,
Lese-Martin C,
Walsh T,
Yamrom B,
Yoon S,
Krasnitz A,
Kendall JT,
Leotta A,
Pai D,
Zhang R,
Lee YH,
Hicks JB,
Spence SJ,
Lee AT,
Puura K,
Lehtimaki T,
Ledbetter D,
Gregersen PK,
Bregman J,
Sutcliffe JS,
Jobanputra V,
Chung W,
Warburton D,
King MC,
Skuse D,
Geschwind DH,
Gilliam TC,
Ye K,
Wigler MH

Science
  316 (5823): 445-449; April 20 2007  
[Abstract]
[DOI] [Full Text] [PDF]

Preliminary-X-Ray Analysis of a Truncated Form of Recombinant Fructose-2,6-Bisphosphatase
Lee YH,
Lin K,
Okar D,
Alfano NL,
Sarma R,
Pflugrath JW,
Pilkis SJ

Journal of Molecular Biology
  235 (3): 1147-1151; Jan 1994  
[Full Text]


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