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
3 Article(s) on File
Page 1 of 1
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data
Glessner JT,
Bick AG,
Ito K,
Homsy JG,
Rodriguez-Murillo L,
Fromer M,
Mazaika E,
Vardarajan B,
Italia M,
Leipzig J,
DePalma SR,
Golhar R,
Sanders SJ,
Yamrom B,
Ronemus M,
Iossifov I,
Willsey AJ,
State MW,
Kaltman JR,
White PS,
Shen Y,
Warburton D,
Brueckner M,
Seidman C,
Goldmuntz E,
Gelb BD,
Lifton R,
Seidman J,
Hakonarson H,
Chung WK

Circulation Research
  115 (10): 884-96; Oct 24 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]

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
Elia J,
Glessner JT,
Wang K,
Takahashi N,
Shtir CJ,
Hadley D,
Sleiman PM,
Zhang H,
Kim CE,
Robison R,
Lyon GJ,
Flory JH,
Bradfield JP,
Imielinski M,
Hou C,
Frackelton EC,
Chiavacci RM,
Sakurai T,
Rabin C,
Middleton FA,
Thomas KA,
Garris M,
Mentch F,
Freitag CM,
Steinhausen HC,
Todorov AA,
Reif A,
Rothenberger A,
Franke B,
Mick EO,
Roeyers H,
Buitelaar J,
Lesch KP,
Banaschewski T,
Ebstein RP,
Mulas F,
Oades RD,
Sergeant J,
Sonuga-Barke E,
Renner TJ,
Romanos M,
Romanos J,
Warnke A,
Walitza S,
Meyer J,
Pálmason H,
Seitz C,
Loo SK,
Smalley SL,
Biederman J,
Kent L,
Asherson P,
Anney RJ,
Gaynor JW,
Shaw P,
Devoto M,
White PS,
Grant SF,
Buxbaum JD,
Rapoport JL,
Williams NM,
Nelson SF,
Faraone SV,
Hakonarson H

Nature Genetics
  44 (1): 78-84; Dec 4 2012  
[Abstract]
[DOI] [Full Text]


Page 1 of 1

Go back to Search Mode


Last Updated: November, 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