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14 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]

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
Delaneau O,
Marchini J,
McVeanh GA,
Donnelly P,
Lunter G,
Marchini JL,
Myers S,
Gupta-Hinch A,
Iqbal Z,
Mathieson I,
Rimmer A,
Xifara DK,
Kerasidou A,
Churchhouse C,
Altshuler DM,
Gabriel SB,
Lander ES,
Gupta N,
Daly MJ,
DePristo MA,
Banks E,
Bhatia G,
Carneiro MO,
Del Angel G,
Genovese G,
Handsaker RE,
Hartl C,
McCarroll SA,
Nemesh JC,
Poplin RE,
Schaffner SF,
Shakir K,
Sabeti PC,
Grossman SR,
Tabrizi S,
Tariyal R,
Li H,
Reich D,
Durbin RM,
Hurles ME,
Balasubramaniam S,
Burton J,
Danecek P,
Keane TM,
Kolb-Kokocinski A,
McCarthy S,
Stalker J,
Quail M,
Ayub Q,
Chen Y,
Coffey AJ,
Colonna V,
Huang N,
Jostins L,
Scally A,
Walter K,
Xue Y,
Zhang Y,
Blackburne B,
Lindsay SJ,
Ning Z,
Frankish A,
Harrow J,
Chris TS,
Abecasis GR,
Kang HM,
Anderson P,
Blackwell T,
Busonero F,
Fuchsberger C,
Jun G,
Maschio A,
Porcu E,
Sidore C,
Tan A,
Trost MK,
Bentley DR,
Grocock R,
Humphray S,
James T,
Kingsbury Z,
Bauer M,
Cheetham RK,
Cox T,
Eberle M,
Murray L,
Shaw R,
Chakravarti A,
Clark AG,
Keinan A,
Rodriguez-Flores JL,
De LaVega FM,
Degenhardt J,
Eichler EE,
Flicek P,
Clarke L,
Leinonen R,
Smith RE,
Zheng-Bradley X,
Beal K,
Cunningham F,
Herrero J,
McLaren WM,
Ritchie GR,
Barker J,
Kelman G,
Kulesha E,
Radhakrishnan R,
Roa A,
Smirnov D,
Streeter I,
Toneva I,
Gibbs RA,
Dinh H,
Kovar C,
Lee S,
Lewis L,
Muzny D,
Reid J,
Wang M,
Yu F,
Bainbridge M,
Challis D,
Evani US,
Lu J,
Nagaswamy U,
Sabo A,
Wang Y,
Yu J,
Fowler G,
Hale W,
Kalra D,
Green ED,
Knoppers BM,
Korbel JO,
Rausch T,
Sttz AM,
Lee C,
Griffin L,
Hsieh CH,
Mills RE,
Von Grotthuss M,
Zhang C,
Shi X,
Lehrach H,
Sudbrak R,
Amstislavskiy VS,
Lienhard M,
Mertes F,
Sultan M,
Timmermann B,
Yaspo ML,
Herwig SR,
Mardis ER,
Wilson RK,
Fulton L,
Fulton R,
Weinstock GM,
Chinwalla A,
Ding L,
Dooling D,
Koboldt DC,
McLellan MD,
Wallis JW,
Wendl MC,
Zhang Q,
Marth GT,
Garrison EP,
Kural D,
Lee WP,
Leong WF,
Ward AN,
Wu J,
Zhang M,
Nickerson DA,
Alkan C,
Hormozdiari F,
Ko A,
Sudmant PH,
Schmidt JP,
Davies CJ,
Gollub J,
Webster T,
Wong B,
Zhan Y,
Sherry ST,
Xiao C,
Church D,
Ananiev V,
Belaia Z,
Beloslyudtsev D,
Bouk N,
Chen C,
Cohen R,
Cook C,
Garner J,
Hefferon T,
Kimelman M,
Liu C,
Lopez J,
Meric P,
Ostapchuk Y,
Phan L,
Ponomarov S,
Schneider V,
Shekhtman E,
Sirotkin K,
Slotta D,
Zhang H,
Wang J,
Fang X,
Guo X,
Jian M,
Jiang H,
Jin X,
Li G,
Li J,
Li Y,
Liu X,
Lu Y,
Ma X,
Tai S,
Tang M,
Wang B,
Wang G,
Wu H,
Wu R,
Yin Y,
Zhang W,
Zhao J,
Zhao M,
Zheng X,
Lachlan H,
Fang L,
Li Q,
Li Z,
Lin H,
Liu B,
Luo R,
Shao H,
Xie Y,
Ye C,
Yu C,
Zheng H,
Zhu H,
Cai H,
Cao H,
Su Y,
Tian Z,
Yang H,
Yang L,
Zhu J,
Cai Z,
Albrecht MW,
Borodina TA,
Auton A,
Yoon SC,
Lihm J,
Makarov V,
Jin H,
Kim W,
Kim KC,
Gottipati S,
Jones D,
Cooper DN,
Ball EV,
Stenson PD,
Barnes B,
Kahn S,
Ye K,
Batzer MA,
Konkel MK,
Walker JA,
MacArthur DG,
Lek M,
Shriver MD,
Bustamante CD,
Gravel S,
Kenny EE,
Kidd JM,
Lacroute P,
Maples BK,
Moreno-Estrada A,
Zakharia F,
Henn B,
Sandoval K,
Byrnes JK,
Halperin E,
Baran Y,
Craig DW,
Christoforides A,
Izatt T,
Kurdoglu AA,
Sinari SA,
Homer N,
Squire K,
Sebat J,
Bafna V,
Burchard EG,
Hernandez RD,
Gignoux CR,
Haussler D,
Katzman SJ,
Kent WJ,
Howie B,
Ruiz-Linares A,
Dermitzakis ET,
Lappalainen T,
Devine SE,
Maroo A,
Tallon LJ,
Rosenfeld JA,
Michelson LP,
Angius A,
Cucca F,
Sanna S,
Bigham A,
Jones C,
Reinier F,
Lyons R,
Schlessinger D,
Awadalla P,
Hodgkinson A,
Oleksyk TK,
Martinez-Cruzado JC,
Fu Y,
Xiong M,
Jorde L,
Witherspoon D,
Xing J,
Browning BL,
Hajirasouliha I,
Chen K,
Albers CA,
Gerstein MB,
Abyzov A,
Chen J,
Habegger L,
Harmanci AO,
Mu XJ,
Sisu C,
Balasubramanian S,
Jin M,
Khurana E,
Clarke D,
Michaelson JJ,
Osullivan C,
Barnes KC,
Gharani N,
Toji LH,
Gerry N,
Kaye JS,
Kent A,
Mathias R,
Ossorio PN,
Parker M,
Rotimi CN,
Royal CD,
Tishkoff S,
Via M,
Bodmer W,
Bedoya G,
Yang G,
You CJ,
Garcia-Montero A,
Orfao A,
Dutil J,
Brooks LD,
Felsenfeld AL

Nature Communications
  5 (0): Jun 13 2014   Elsevier
[Abstract]
[DOI] [Full Text]

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
McCarthy SE,
Gillis J,
Kramer M,
Lihm J,
Yoon S,
Berstein Y,
Mistry M,
Pavlidis P,
Solomon R,
Ghiban E,
Antoniou E,
Kelleher E,
OBrien C,
Donohoe G,
Gill M,
Morris DW,
McCombie WR,
Corvin A

Molecular Psychiatry
  19 (6): 652-658; Jun 2014   NLM
[Abstract]
[DOI] [Full Text]

An integrated map of genetic variation from 1,092 human genomes
Altshuler DM,
Durbin RM,
Abecasis GR,
Bentley DR,
Chakravarti A,
Clark AG,
Donnelly P,
Eichler EE,
Flicek P,
Gabriel SB,
Gibbs RA,
Green ED,
Hurles ME,
Knoppers BM,
Korbel JO,
Lander ES,
Lee C,
Lehrach H,
Mardis ER,
Marth GT,
McVean GA,
Nickerson DA,
Schmidt JP,
Sherry ST,
Wang J,
Wilson RK,
Dinh H,
Kovar C,
Lee S,
Lewis L,
Muzny D,
Reid J,
Wang M,
Fang XD,
Guo XS,
Jian M,
Jiang H,
Jin X,
Li GQ,
Li JX,
Li YR,
Li Z,
Liu X,
Lu Y,
Ma XD,
Su Z,
Tai SS,
Tang MF,
Wang B,
Wang GB,
Wu HL,
Wu RH,
Yin Y,
Zhang WW,
Zhao J,
Zhao MR,
Zheng XL,
Zhou Y,
Gupta N,
Clarke L,
Leinonen R,
Smith RE,
Zheng-Bradley X,
Grocock R,
Humphray S,
James T,
Kingsbury Z,
Sudbrak R,
Albrecht MW,
Amstislavskiy VS,
Borodina TA,
Lienhard M,
Mertes F,
Sultan M,
Timmermann B,
Yaspo ML,
Fulton L,
Fulton R,
Weinstock GM,
Balasubramaniam S,
Burton J,
Danecek P,
Keane TM,
Kolb-Kokocinski A,
McCarthy S,
Stalker J,
Quail M,
Davies CJ,
Gollub J,
Webster T,
Wong B,
Zhan YP,
Auton A,
Yu F,
Bainbridge M,
Challis D,
Evani US,
Lu J,
Nagaswamy U,
Sabo A,
Wang Y,
Yu J,
Coin LJ,
Fang L,
Li QB,
Li ZY,
Lin HX,
Liu BH,
Luo RB,
Qin N,
Shao HJ,
Wang BQ,
Xie YL,
Ye C,
Yu C,
Zhang F,
Zheng HC,
Zhu HM,
Garrison EP,
Kural D,
Lee WP,
Leong WF,
Ward AN,
Wu JT,
Zhang MY,
Griffin L,
Hsieh CH,
Mills RE,
Shi XH,
von Grotthuss M,
Zhang CS,
Daly MJ,
DePristo MA,
Banks E,
Bhatia G,
Carneiro MO,
del Angel G,
Genovese G,
Handsaker RE,
Hartl C,
McCarroll SA,
Nemesh JC,
Poplin RE,
Schaffner SF,
Shakir K,
Yoon SC,
Lihm J,
Makarov V,
Jin HJ,
Kim W,
Kim KC,
Rausch T,
Beal K,
Cunningham F,
Herrero J,
McLaren WM,
Ritchie GR,
Gottipati S,
Keinan A,
Rodriguez-Flores JL,
Sabeti PC,
Grossman SR,
Tabrizi S,
Tariyal R,
Cooper DN,
Ball EV,
Stenson PD,
Barnes B,
Bauer M,
Cheetham RK,
Cox T,
Eberle M,
Kahn S,
Murray L,
Peden J,
Shaw R,
Ye K,
Batzer MA,
Konkel MK,
Walker JA,
MacArthur DG,
Lek M,
Herwig R,
Shriver MD,
Bustamante CD,
Byrnes JK,
De la Vega FM,
Gravel S,
Kenny EE,
Kidd JM,
Lacroute P,
Maples BK,
Moreno-Estrada A,
Zakharia F,
Halperin E,
Baran Y,
Craig DW,
Christoforides A,
Homer N,
Izatt T,
Kurdoglu AA,
Sinari SA,
Squire K,
Xiao CL,
Sebat J,
Bafna V,
Burchard EG,
Hernandez RD,
Gignoux CR,
Haussler D,
Katzman SJ,
Kent WJ,
Howie B,
Ruiz-Linares A,
Dermitzakis ET,
Lappalainen T,
Devine SE,
Liu XY,
Maroo A,
Tallon LJ,
Rosenfeld JA,
Michelson LP,
Kang HM,
Anderson P,
Angius A,
Bigham A,
Blackwell T,
Busonero F,
Cucca F,
Fuchsberger C,
Jones C,
Jun G,
Li Y,
Lyons R,
Maschio A,
Porcu E,
Reinier F,
Sanna S,
Schlessinger D,
Sidore C,
Tan A,
Trost MK,
Awadalla P,
Hodgkinson A,
Lunter G,
Marchini JL,
Myers S,
Churchhouse C,
Delaneau O,
Gupta-Hinch A,
Iqbal Z,
Mathieson I,
Rimmer A,
Xifara DK,
Oleksyk TK,
Fu YX,
Liu XM,
Xiong MM,
Jorde L,
Witherspoon D,
Xing JC,
Browning BL,
Alkan C,
Hajirasouliha I,
Hormozdiari F,
Ko A,
Sudmant PH,
Chen K,
Chinwalla A,
Ding L,
Dooling D,
Koboldt DC,
McLellan MD,
Wallis JW,
Wendl MC,
Zhang QY,
Tyler-Smith C,
Albers CA,
Ayub Q,
Chen Y,
Coffey AJ,
Colonna V,
Huang N,
Jostins L,
Li H,
Scally A,
Walter K,
Xue YL,
Zhang YJ,
Gerstein MB,
Abyzov A,
Balasubramanian S,
Chen JM,
Clarke D,
Fu Y,
Habegger L,
Harmanci AO,
Jin MK,
Khurana E,
Mu XJ,
Sisu C,
Degenhardt J,
Stutz AM,
Church D,
Michaelson JJ,
Ben B,
Lindsay SJ,
Ning ZM,
Yu FL,
Frankish A,
Harrow J,
Fowler G,
Hale W,
Kalra D,
Guo X,
Li G,
Zheng X,
Barker J,
Kelman G,
Kulesha E,
Radhakrishnan R,
Roa A,
Smirnov D,
Streeter I,
Toneva I,
Vaughan B,
Ananiev V,
Belaia Z,
Beloslyudtsev D,
Bouk N,
Chen C,
Cohen R,
Cook C,
Garner J,
Hefferon T,
Kimelman M,
Liu C,
Lopez J,
Meric P,
OSullivan C,
Ostapchuk Y,
Phan L,
Ponomarov S,
Schneider V,
Shekhtman E,
Sirotkin K,
Slotta D,
Zhang H,
Barnes KC,
Beiswanger C,
Cai HY,
Cao HZ,
Gharani N,
Henn B,
Jones D,
Kaye JS,
Kent A,
Kerasidou A,
Mathias R,
Ossorio PN,
Parker M,
Reich D,
Rotimi CN,
Royal CD,
Sandoval K,
Su YY,
Tian ZM,
Tishkoff S,
Toji LH,
Via M,
Wang YH,
Yang HM,
Yang L,
Zhu JY,
Bodmer W,
Bedoya G,
Ming CZ,
Yang G,
You CJ,
Peltonen L,
Garcia-Montero A,
Orfao A,
Dutil J,
Martinez-Cruzado JC,
Brooks LD,
Felsenfeld AL,
McEwen JE,
Clemm NC,
Duncanson A,
Dunn M,
Guyer MS,
Peterson JL,
Genomes Project C

Nature
  491 (7422): 56-65; Nov 1 2012  
[Abstract]
[DOI] [Full Text]

An oncogenome-based RNAi screen identifies a tumour suppressor network in B-cell lymphoma relying on the polyamine-hypusine axis
Miething C,
Scuoppo C,
Lindqvist L,
Reyes J,
Ruse C,
Appelmann I,
Yoon S,
Krasnitz A,
Teruya-Feldstein J,
Pappin D,
Pelletier J,
Lowe S

Onkologie
  35 (0): 104-104; Oct 6 2012  
[Full Text]

A tumour suppressor network relying on the polyamine-hypusine axis
Scuoppo C,
Miething C,
Lindqvist L,
Reyes J,
Ruse C,
Appelmann I,
Yoon S,
Krasnitz A,
Teruya-Feldstein J,
Pappin D,
Pelletier J,
Lowe SW

Nature
  487 (7406): 244-8; Jul 12 2012   NLM
[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]

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
Vacic V,
McCarthy SE,
Malhotra D,
Murray F,
Chou HH,
Peoples A,
Makarov V,
Yoon S,
Bhandari A,
Corominas R,
Iakoucheva LM,
Krastoshevsky O,
Krause V,
Larach-Walters V,
Welsh DK,
Craig D,
Kelsoe JR,
Gershon ES,
Leal SM,
Aquila MD,
Morris DW,
Gill M,
Corvin A,
Insel PA,
McClellan J,
King MC,
Karayiorgou M,
Levy DL,
Delisi LE,
Sebat J

Nature
  (0): Feb 23 2011   NLM
[Abstract]
[DOI]

High frequencies of de novo cnvs in bipolar disorder and schizophrenia
Malhotra D,
McCarthy S,
Michaelson JJ,
Vacic V,
Burdick KE,
Yoon S,
Cichon S,
Corvin A,
Gary S,
Gershon ES,
Gill M,
Karayiorgou M,
Kelsoe JR,
Krastoshevsky O,
Krause V,
Leibenluft E,
Levy DL,
Makarov V,
Bhandari A,
Malhotra AK,
McMahon FJ,
Nöthen MM,
Potash JB,
Rietschel M,
Schulze TG,
Sebat J

Neuron
  72 (6): 951-963; 2011  
[Abstract]
[DOI] [Full Text]

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]

Sensitive and accurate detection of copy number variants using read depth of coverage
Yoon S,
Xuan Z,
Makarov V,
Ye K,
Sebat J

Genome Res
  19 (0): 9; Sep 2009   PMCID: PMC2752127
[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]

Mixture modeling of microarray gene expression data
Yang Y,
Tashman AP,
Lee JY,
Yoon S,
Mao W,
Ahn K,
Kim W,
Mendell NR,
Gordon D,
Finch SJ

BMC Proc
  1 (0): S50; 2007   PMCID: PMC2367561
[Abstract]
[Full Text] [PDF]

Novel patterns of genome rearrangement and their association with survival in breast cancer
Hicks JB,
Krasnitz A,
Lakshmi B,
Navin NE,
Riggs M,
Leibu E,
Esposito D,
Alexander J,
Troge JE,
Grubor V,
Yoon S,
Wigler MH,
Ye K,
Borresen-Dale AL,
Naume B,
Schlicting E,
Norton L,
Hagerstrom T,
Skoog L,
Auer G,
Månér S,
Lundin P,
Zetterberg A

Genome Res
  16 (12): 1465-79; Dec 2006  
[Abstract]
[DOI] [Full Text] [PDF]


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