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9 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]

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Brownstein CA,
Beggs AH,
Homer N,
Merriman B,
Yu TW,
Flannery KC,
Dechene ET,
Towne MC,
Savage SK,
Price EN,
Holm IA,
Luquette LJ,
Lyon E,
Majzoub J,
Neupert P,
McCallie D,
Szolovits P,
Willard HF,
Mendelsohn NJ,
Temme R,
Finkel RS,
Yum SW,
Medne L,
Sunyaev SR,
Adzhubey I,
Cassa CA,
de Bakker PI,
Duzkale H,
Dworzy Ski P,
Fairbrother W,
Francioli L,
Funke BH,
Giovanni MA,
Handsaker RE,
Lage K,
Lebo MS,
Lek M,
Leshchiner I,
Macarthur DG,
McLaughlin HM,
Murray MF,
Pers TH,
Polak PP,
Raychaudhuri S,
Rehm HL,
Soemedi R,
Stitziel NO,
Vestecka S,
Supper J,
Gugenmus C,
Klocke B,
Hahn A,
Schubach M,
Menzel M,
Biskup S,
Freisinger P,
Deng M,
Braun M,
Perner S,
Smith RJ,
Andorf JL,
Huang J,
Ryckman K,
Sheffield VC,
Stone EM,
Bair T,
Black-Ziegelbein EA,
Braun TA,
Darbro B,
Deluca AP,
Kolbe DL,
Scheetz TE,
Shearer AE,
Sompallae R,
Wang K,
Bassuk AG,
Edens E,
Mathews K,
Moore SA,
Shchelochkov OA,
Trapane P,
Bossler A,
Campbell CA,
Heusel JW,
Kwitek A,
Maga T,
Panzer K,
Wassink T,
Van Daele D,
Azaiez H,
Booth K,
Meyer N,
Segal MM,
Williams MS,
Tromp G,
White P,
Corsmeier D,
Fitzgerald-Butt S,
Herman G,
Lamb-Thrush D,
McBride KL,
Newsom D,
Pierson CR,
Rakowsky AT,
Maver A,
Lovre IL,
Palanda IA,
Peterlin B,
Torkamani A,
Wedell A,
Huss M,
Alexeyenko A,
Lindvall JM,
Magnusson M,
Nilsson D,
Stranneheim H,
Taylan F,
Gilissen C,
Hoischen A,
van Bon B,
Yntema H,
Nelen M,
Zhang W,
Sager J,
Zhang L,
Blair K,
Kural D,
Cariaso M,
Lennon GG,
Javed A,
Agrawal S,
Ng PC,
Sandhu KS,
Krishna S,
Veeramachaneni V,
Isakov O,
Halperin E,
Friedman E,
Shomron N,
Glusman G,
Roach JC,
Caballero J,
Cox HC,
Mauldin D,
Ament SA,
Rowen L,
Richards DR,
Lucas FA,
Gonzalez-Garay ML,
Caskey CT,
Bai Y,
Huang Y,
Fang F,
Zhang Y,
Wang Z,
Barrera J,
Garcia-Lobo JM,
Gonzalez-Lamuno D,
Llorca J,
Rodriguez MC,
Varela I,
Reese MG,
De La Vega FM,
Kiruluta E,
Cargill M,
Hart RK,
Sorenson JM,
Lyon GJ,
Stevenson DA,
Bray BE,
Moore BM,
Eilbeck K,
Yandell M,
Zhao H,
Hou L,
Chen X,
Yan X,
Chen M,
Li C,
Yang C,
Gunel M,
Li P,
Kong Y,
Alexander AC,
Albertyn ZI,
Boycott KM,
Bulman DE,
Gordon PM,
Innes AM,
Knoppers BM,
Majewski J,
Marshall CR,
Parboosingh JS,
Sawyer SL,
Samuels ME,
Schwartzentruber J,
Kohane IS,
Margulies DM

Genome Biology
  15 (3): R53; Mar 25 2014   NLM
[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]

Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms
Badner JA,
Koller D,
Foroud T,
Edenberg H,
Nurnberger JI,
Zandi PP,
Willour VL,
McMahon FJ,
Potash JB,
Hamshere M,
Grozeva D,
Green E,
Kirov G,
Jones I,
Jones L,
Craddock N,
Morris D,
Segurado R,
Gill M,
Sadovnick D,
Remick R,
Keck P,
Kelsoe J,
Ayub M,
MacLean A,
Blackwood D,
Liu CY,
Gershon ES,
McMahon W,
Lyon GJ,
Robinson R,
Ross J,
Byerley W

Mol Psychiatry
  17 (8): 818-826; Jul 2012  
[Abstract]
[DOI] [Full Text]

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]

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford HC,
Sharp AJ,
Baker C,
Itsara A,
Jiang Z,
Buysse K,
Huang S,
Maloney VK,
Crolla JA,
Baralle D,
Collins A,
Mercer C,
Norga K,
de Ravel T,
Devriendt K,
Bongers EM,
de Leeuw N,
Reardon W,
Gimelli S,
Bena F,
Hennekam RC,
Male A,
Gaunt L,
Clayton-Smith J,
Simonic I,
Park SM,
Mehta SG,
Nik-Zainal S,
Woods CG,
Firth HV,
Parkin G,
Fichera M,
Reitano S,
Lo Giudice M,
Li KE,
Casuga I,
Broomer A,
Conrad B,
Schwerzmann M,
Raber L,
Gallati S,
Striano P,
Coppola A,
Tolmie JL,
Tobias ES,
Lilley C,
Armengol L,
Spysschaert Y,
Verloo P,
De Coene A,
Goossens L,
Mortier G,
Speleman F,
van Binsbergen E,
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]

Full-genome scan for linkage in 50 families segregating the bipolar affective disease phenotype
Friddle C,
Koskela R,
Ranade K,
Hebert J,
Cargill M,
Clark CD,
McInnis M,
Simpson S,
McMahon F,
Stine OC,
Meyers D,
Xu JF,
MacKinnon D,
Swift-Scanlan T,
Jamison K,
Folstein S,
Daly M,
Kruglyak L,
Marr T,
DePaulo JR,
Botstein D

American Journal of Human Genetics
  66 (1): 205-215; Jan 2000  
[Abstract]
[Full Text]


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