Cold Spring Harbor Library  CSHL: Home
   Home       Services       Archives       About Us   
 
CSHL Publication List
CSHL Authors Publications
Go back to Search Mode

          
Sort by   in order
8 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]

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]

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]

A unified genetic theory for sporadic and inherited autism
Zhao X,
Leotta A,
Kustanovich V,
Lajonchere C,
Geschwind DH,
Law K,
Law P,
Qiu S,
Lord C,
Sebat J,
Ye K,
Wigler MH

Proc Natl Acad Sci U S A
  104 (31): 12831-12836; Jul 31 2007  
[Abstract]
[DOI] [Full Text] [PDF]

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]


Page 1 of 1

Go back to Search Mode


Last Updated: September, 2017
Most Recent Publications: Jan 13, 2015

© 2012   CSHL Library and Archives   1 Bungtown Rd.   Cold Spring Harbor, NY 11724   Library Information 516-367-6872
CSHL Home Intranet