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36 Article(s) on File
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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]

Implication of a Rare Deletion at Distal 16p11.2 in Schizophrenia
Guha S,
Rees E,
Darvasi A,
Ivanov D,
Ikeda M,
Bergen SE,
Magnusson PK,
Cormican P,
Morris D,
Gill M,
Cichon S,
Rosenfeld JA,
Lee A,
Gregersen PK,
Kane JM,
Malhotra AK,
Rietschel M,
Nothen MM,
Degenhardt F,
Priebe L,
Breuer R,
Strohmaier J,
Ruderfer DM,
Moran JL,
Chambert KD,
Sanders AR,
Shi JX,
Kendler K,
Riley B,
ONeill T,
Walsh D,
Malhotra D,
Corvin A,
Purcell S,
Sklar P,
Iwata N,
Hultman CM,
Sullivan PF,
Sebat J,
McCarthy S,
Gejman PV,
Levinson DF,
Owen MJ,
ODonovan MC,
Lencz T,
Kirov G

Jama Psychiatry
  70 (3): 253-260; Mar 2013  
[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]

A Rare Deletion At Distal 16p11.2 Is Implicated In Schizophrenia
Guha S,
Rees E,
Darvasi A,
Ivanov D,
Ikeda M,
Bergen SE,
Magnusson PK,
Cormican P,
Cihon S,
Rosenfeld JA,
Malhotra AK,
Rujescu D,
Ruderfer D,
Purcell S,
Sklar P,
Iwata N,
Hultman CM,
Sullivan P,
Sebat J,
McCarthy S,
Levinson D,
Owen MJ,
ODonovan MC,
Lencz T,
Kirov G

Biological Psychiatry
  71 (8): 120S-121S; Apr 2012  
[DOI] [Full Text]

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism
Nord AS,
Roeb W,
Dickel DE,
Walsh T,
Kusenda M,
OConnor KL,
Malhotra D,
McCarthy SE,
Stray SM,
Taylor SM,
Sebat J,
King B,
King MC,
McClellan JM

European Journal of Human Genetics
  19 (6): 727-731; Jun 2011   Elsevier PMC3110052
[Abstract]
[DOI]

Modelling schizophrenia using human induced pluripotent stem cells
Brennand KJ,
Simone A,
Jou J,
Gelboin-Burkhart C,
Tran N,
Sangar S,
Li Y,
Mu Y,
Chen G,
Yu D,
McCarthy SE,
Sebat J,
Gage FH

Nature
  473 (7346): 221 - 225; May 12 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]

Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51
Walsh T,
Pierce SB,
Lenz DR,
Brownstein Z,
Dagan-Rosenfeld O,
Shahin H,
Roeb W,
McCarthy SE,
Nord AS,
Gordon CR,
Ben-Neriah Z,
Sebat J,
Kanaan M,
Lee MK,
Frydman M,
King MC,
Avraham KB

American Journal of Human Genetics
  87 (1): 101-109 ; Jul 9 2010   PMCID: PMC2896780
[Abstract]
[DOI] [Full Text] [PDF]

Genomewide Association Study of Movement-Related Adverse Antipsychotic Effects
Aberg K,
Adkins DE,
Bukszár J,
Webb BT,
Caroff SN,
Miller DD,
Sebat J,
Stroup S,
Fanous AH,
Vladimirov VI,
McClay JL,
Lieberman JA,
Sullivan PF,
van den Oord EJ

Biological Psychiatry
  67 (3): 279-282; Feb 1 2010  
[Abstract]
[DOI] [Full Text] [PDF]

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Girirajan S,
Rosenfeld JA,
Cooper GM,
Antonacci F,
Siswara P,
Itsara A,
Vives L,
Walsh T,
McCarthy SE,
Baker C,
Mefford HC,
Kidd JM,
Browning SR,
Browning BL,
Dickel DE,
Levy DL,
Ballif BC,
Platky K,
Farber DM,
Gowans GC,
Wetherbee JJ,
Asamoah A,
Weaver DD,
Mark PR,
Dickerson J,
Garg BP,
Ellingwood SA,
Smith R,
Banks VC,
Smith W,
McDonald MT,
Hoo JJ,
French BN,
Hudson C,
Johnson JP,
Ozmore JR,
Moeschler JB,
Surti U,
Escobar LF,
El-Khechen D,
Gorski JL,
Kussmann J,
Salbert B,
Lacassie Y,
Biser A,
McDonald-McGinn DM,
Zackai EH,
Deardorff MA,
Shaikh TH,
Haan E,
Friend KL,
Fichera M,
Romano C,
Gécz J,
DeLisi LE,
Sebat J,
King MC,
Shaffer LG,
Eichler EE

Nature Genetics
  (0): Feb 14 2010   PMCID: PMC2847896
[Abstract]
[DOI] [Full Text] [PDF]

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]

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders
Sebat J,
Levy DL,
McCarthy SE

Trends Genet
  (0): Oct 31 2009  
[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]

Rare Gene Copy Number Variations Are Associated with Specific Endophenotypes in Schizophrenia
Deutsch CK,
Malhotra D,
Krause V,
McCarthy SE,
Krastoshevsky O,
Coleman M,
Francis RW,
Bodkin JA,
Boling L,
Cole J,
Gibbs A,
Johnson F,
Lerbinger J,
Mendell NR,
Sebat J,
Levy DL

Schizophrenia Bulletin
  35 (0): 117-117; Mar 2009  


The role of rare structural variants in the genetics of autism spectrum disorders
Kusenda M,
Sebat J

Cytogenet Genome Res
  123 (1): 36-43; Mar 2009   PMCID: PMC2920182
[Abstract]
[DOI] [Full Text] [PDF]

Computing power and sample size for case-control association studies with copy number polymorphism: application of mixture-based likelihood ratio test
Kim W,
Gordon D,
Sebat J,
Ye KQ,
Finch SJ

PLoS ONE
  3 (10): e3475; Oct 22 2008   PMCID: PMC2566806
[Abstract]
[DOI] [Full Text] [PDF]

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
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Sharp AJ,
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Itsara A,
Jiang Z,
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Huang S,
Maloney VK,
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Hennekam RC,
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Gaunt L,
Clayton-Smith J,
Simonic I,
Park SM,
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Woods CG,
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Parkin G,
Fichera M,
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Casuga I,
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Conrad B,
Schwerzmann M,
Raber L,
Gallati S,
Striano P,
Coppola A,
Tolmie JL,
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Lilley C,
Armengol L,
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Verloo P,
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Mortier G,
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Nelen MR,
Hochstenbach R,
Poot M,
Gallagher L,
Gill M,
McClellan J,
King MC,
Regan R,
Skinner C,
Stevenson RE,
Antonarakis SE,
Chen C,
Estivill X,
Menten B,
Gimelli G,
Gribble S,
Schwartz S,
Sutcliffe JS,
Walsh T,
Knight SJ,
Sebat J,
Romano C,
Schwartz CE,
Veltman JA,
de Vries BB,
Vermeesch JR,
Barber JC,
Willatt L,
Tassabehji M,
Eichler EE

N Engl J Med
  359 (16): 1685-99; Oct 16 2008   PMCID: PMC2703742
[Abstract]
[DOI] [Full Text] [PDF]

Gene mutations and cognitive delay - Response
McClellan JM,
Walsh T,
McCarthy SE,
King MC,
Sebat J

Science
  321 (5889): 640-640; Aug 1 2008  
[DOI] [Full Text] [PDF]

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
Walsh T,
McClellan JM,
McCarthy SE,
Addington AM,
Pierce SB,
Cooper GM,
Nord AS,
Kusenda M,
Malhotra D,
Bhandari A,
Stray SM,
Rippey CF,
Roccanova P,
Makarov V,
Lakshmi B,
Findling RL,
Sikich L,
Stromberg T,
Merriman B,
Gogtay N,