Publications | International Center for Genetic Disease at Harvard Medical School

PhIP-Seq characterization of autoantibodies from patients with multiple sclerosis, type 1 diabetes and rheumatoid arthritis.

Authors :Larman HB , Laserson U , Querol L , Verhaeghen K , Solimini NL , Xu GJ , Klarenbeek PL , Church GM , Hafler DA , Plenge RM , Nigrovic PA , De Jager PL , Weets I , Martens GA , O'Connor KC , Elledge SJ

Published On :2013 Jun

Journal Article

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.

Authors :Burnside RD , Pappas JG , Sacharow S , Applegate C , Hamosh A , Gadi IK , Jaswaney V , Keitges E , Phillips KK , Potluri VR , Risheg H , Smith JL , Tepperberg JH , Schwartz S , Papenhausen P

Published On :2013 Apr

Journal Article

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.

Authors :Coste B , Houge G , Murray MF , Stitziel N , Bandell M , Giovanni MA , Philippakis A , Hoischen A , Riemer G , Steen U , Steen VM , Mathur J , Cox J , Lebo M , Rehm H , Weiss ST , Wood JN , Maas RL , Sunyaev SR , Patapoutian A

Published On :2013 Mar 19

Journal Article

Multiple phases of chondrocyte enlargement underlie differences in skeletal proportions.

Authors :Cooper KL , Oh S , Sung Y , Dasari RR , Kirschner MW , Tabin CJ

Published On :2013 Mar 21

Journal Article

c-Jun is required for the specification of joint cell fates.

Authors :Kan A , Tabin CJ

Published On :2013 Mar 1

Journal Article

Neuroscience. The brain activity map.

Authors :Alivisatos AP , Chun M , Church GM , Deisseroth K , Donoghue JP , Greenspan RJ , McEuen PL , Roukes ML , Sejnowski TJ , Weiss PS , Yuste R

Published On :2013 Mar 15

Journal Article

A Special Material or a New State of Matter: A Review and Reconsideration of the Aerogel.

Authors :Du A , Zhou B , Zhang Z , Shen J

Published On :2013 Mar 8

Journal Article Review

Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency.

Authors :Kiezun A , Pulit SL , Francioli LC , van Dijk F , Swertz M , Boomsma DI , van Duijn CM , Slagboom PE , van Ommen GJ , Wijmenga C , Genome of the Netherlands Consortium , de Bakker PI , Sunyaev SR

Published On :2013

Journal Article

Genome engineering in Saccharomyces cerevisiae using CRISPR-Cas systems.

Authors :DiCarlo JE , Norville JE , Mali P , Rios X , Aach J , Church GM

Published On :2013 Apr

Journal Article

Certification for implantation of durable, implantable ventricular assist devices in the United States: the need for clarification of the process.

Authors :Pagani FD , Kormos RL , Calhoon JH , Higgins RS , Rich JB

Published On :2013 May

Editorial

Seven new loci associated with age-related macular degeneration.

Authors :Fritsche LG , Chen W , Schu M , Yaspan BL , Yu Y , Thorleifsson G , Zack DJ , Arakawa S , Cipriani V , Ripke S , Igo RP Jr , Buitendijk GH , Sim X , Weeks DE , Guymer RH , Merriam JE , Francis PJ , Hannum G , Agarwal A , Armbrecht AM , Audo I , Aung T , Barile GR , Benchaboune M , Bird AC , Bishop PN , Branham KE , Brooks M , Brucker AJ , Cade WH , Cain MS , Campochiaro PA , Chan CC , Cheng CY , Chew EY , Chin KA , Chowers I , Clayton DG , Cojocaru R , Conley YP , Cornes BK , Daly MJ , Dhillon B , Edwards AO , Evangelou E , Fagerness J , Ferreyra HA , Friedman JS , Geirsdottir A , George RJ , Gieger C , Gupta N , Hagstrom SA , Harding SP , Haritoglou C , Heckenlively JR , Holz FG , Hughes G , Ioannidis JP , Ishibashi T , Joseph P , Jun G , Kamatani Y , Katsanis N , N Keilhauer C , Khan JC , Kim IK , Kiyohara Y , Klein BE , Klein R , Kovach JL , Kozak I , Lee CJ , Lee KE , Lichtner P , Lotery AJ , Meitinger T , Mitchell P , Mohand-Saïd S , Moore AT , Morgan DJ , Morrison MA , Myers CE , Naj AC , Nakamura Y , Okada Y , Orlin A , Ortube MC , Othman MI , Pappas C , Park KH , Pauer GJ , Peachey NS , Poch O , Priya RR , Reynolds R , Richardson AJ , Ripp R , Rudolph G , Ryu E , Sahel JA , Schaumberg DA , Scholl HP , Schwartz SG , Scott WK , Shahid H , Sigurdsson H , Silvestri G , Sivakumaran TA , Smith RT , Sobrin L , Souied EH , Stambolian DE , Stefansson H , Sturgill-Short GM , Takahashi A , Tosakulwong N , Truitt BJ , Tsironi EE , Uitterlinden AG , van Duijn CM , Vijaya L , Vingerling JR , Vithana EN , Webster AR , Wichmann HE , Winkler TW , Wong TY , Wright AF , Zelenika D , Zhang M , Zhao L , Zhang K , Klein ML , Hageman GS , Lathrop GM , Stefansson K , Allikmets R , Baird PN , Gorin MB , Wang JJ , Klaver CC , Seddon JM , Pericak-Vance MA , Iyengar SK , Yates JR , Swaroop A , Weber BH , Kubo M , Deangelis MM , Léveillard T , Thorsteinsdottir U , Haines JL , Farrer LA , Heid IM , Abecasis GR , AMD Gene Consortium

Published On :2013 Apr

Journal Article

Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.

Authors :Setoodeh A , Haghighi A , Saleh-Gohari N , Ellard S , Haghighi A

Published On :2013 May 1

Journal Article

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

Authors :Stevens E , Carss KJ , Cirak S , Foley AR , Torelli S , Willer T , Tambunan DE , Yau S , Brodd L , Sewry CA , Feng L , Haliloglu G , Orhan D , Dobyns WB , Enns GM , Manning M , Krause A , Salih MA , Walsh CA , Hurles M , Campbell KP , Manzini MC , UK10K Consortium , Stemple D , Lin YY , Muntoni F

Published On :2013 Mar 7

Journal Article

EcdGHK are three tailoring iron oxygenases for amino acid building blocks of the echinocandin scaffold.

Authors :Jiang W , Cacho RA , Chiou G , Garg NK , Tang Y , Walsh CT

Published On :2013 Mar 20

Journal Article

Comparison of activated carbon and oxidized multiwalled carbon nanotubes modified with bis(3-nitrobenzylidene)-1,2-ethanediamine for enrichment of trace amounts of some metal ions.

Authors :Ghaedi M , Montazerozohori M , Tabatabie M , Noormohamadi H , Haghighi AB

Published On :2012 Nov-Dec

Journal Article