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13 Article(s) on File
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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]

Unlocking the Treasure Trove: From Genes to Schizophrenia Biology
McCarthy SE,
McCombie WR,
Corvin A

Schizophrenia Bulletin
  (0): Mar 27 2014   NLM
[Abstract]
[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]

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]

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]

Evaluation of neprilysin sequence variation in relation to CSF beta-Amyloid levels and Alzheimer disease risk
Blomqvist ME,
McCarthy SE,
Blennow K,
Andersson B,
Prince JA

International Journal of Molecular Epidemiology and Genetics
  1 (1): 47-52; 2010   PMC3076750
[Abstract]
[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]

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]

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  


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,
Butler P,
Eckstrand K,
Noory L,
Gochman P,
Long R,
Chen Z,
Davis S,
Baker C,
Eichler EE,
Meltzer PS,
Nelson SF,
Singleton AB,
Lee MK,
Rapoport JL,
King MC,
Sebat J

Science
  320 (5875): 539-43; Apr 25 2008  
[Abstract]
[DOI] [Full Text] [PDF]


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