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
6 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]

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
Wang K,
Kim C,
Bradfield J,
Guo YF,
Toskala E,
Otieno FG,
Hou CP,
Thomas K,
Cardinale C,
Lyon GJ,
Golhar R,
Hakonarson H

Genome Medicine
  5 (0): Jul 2013   NLM
[Abstract]
[Full Text]

Whole-genome sequencing in an autism multiplex family
Shi L,
Zhang X,
Golhar R,
Otieno FG,
He M,
Hou C,
Kim C,
Keating B,
Lyon GJ,
Wang K,
Hakonarson H

Mol Autism
  4 (1): 8; Apr 18 2013   Nlm
[Abstract]
[DOI] [Full Text]

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing
ORawe J,
Jiang T,
Sun GQ,
Wu YY,
Wang W,
Hu JC,
Bodily P,
Tian LF,
Hakonarson H,
Johnson WE,
Wei Z,
Wang K,
Lyon GJ

Genome Medicine
  5 (0): Mar 27 2013  
[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]

Erratum: Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency (American Journal of Human Genetics (2011) 89 (28-43))
Rope AF,
Wang K,
Evjenth R,
Xing J,
Johnston JJ,
Swensen JJ,
Johnson WE,
Moore B,
Huff CD,
Bird LM,
Carey JC,
Opitz JM,
Stevens CA,
Jiang T,
Schank C,
Fain HD,
Robison R,
Dalley B,
Chin S,
South ST,
Pysher TJ,
Jorde LB,
Hakonarson H,
Lillehaug JR,
Biesecker LG,
Yandell M,
Arnesen T,
Lyon GJ

Am J Hum Genet
  89 (2): 345; Aug 12 2011  
[DOI]


Page 1 of 1

Go back to Search Mode


Last Updated: September, 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