Publications | International Center for Genetic Disease at Harvard Medical School

An old photograph promotes the certification of graduates by examination.

Authors :Koch E

Published On :2015 Apr

Historical Article Letter

Use of whole exome sequencing for the identification of Ito-based arrhythmia mechanism and therapy.

Authors :Sturm AC , Kline CF , Glynn P , Johnson BL , Curran J , Kilic A , Higgins RS , Binkley PF , Janssen PM , Weiss R , Raman SV , Fowler SJ , Priori SG , Hund TJ , Carnes CA , Mohler PJ

Published On :2015 May 26

Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Immunochromatographic assay for quantitative and sensitive detection of hepatitis B virus surface antigen using highly luminescent quantum dot-beads.

Authors :Shen J , Zhou Y , Fu F , Xu H , Lv J , Xiong Y , Wang A

Published On :2015 Sep 1

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Galactose metabolism and health.

Authors :Coelho AI , Berry GT , Rubio-Gozalbo ME

Published On :2015 Jul

Journal Article Review

Genome-wide patterns and properties of de novo mutations in humans.

Authors :Francioli LC , Polak PP , Koren A , Menelaou A , Chun S , Renkens I , Genome of the Netherlands Consortium , van Duijn CM , Swertz M , Wijmenga C , van Ommen G , Slagboom PE , Boomsma DI , Ye K , Guryev V , Arndt PF , Kloosterman WP , de Bakker PIW , Sunyaev SR

Published On :2015 Jul

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Twin Study

Seasonal variation in onset and relapse of IBD and a model to predict the frequency of onset, relapse, and severity of IBD based on artificial neural network.

Authors :Peng JC , Ran ZH , Shen J

Published On :2015 Sep

Journal Article Research Support, Non-U.S. Gov't Validation Study

Genetics of GNE myopathy in the non-Jewish Persian population.

Authors :Haghighi A , Nafissi S , Qurashi A , Tan Z , Shamshiri H , Nilipour Y , Haghighi A , Desnick RJ , Kornreich R

Published On :2016 Feb

Journal Article Research Support, Non-U.S. Gov't

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.

Authors :Rivas MA , Pirinen M , Conrad DF , Lek M , Tsang EK , Karczewski KJ , Maller JB , Kukurba KR , DeLuca DS , Fromer M , Ferreira PG , Smith KS , Zhang R , Zhao F , Banks E , Poplin R , Ruderfer DM , Purcell SM , Tukiainen T , Minikel EV , Stenson PD , Cooper DN , Huang KH , Sullivan TJ , Nedzel J , GTEx Consortium , Geuvadis Consortium , Bustamante CD , Li JB , Daly MJ , Guigo R , Donnelly P , Ardlie K , Sammeth M , Dermitzakis ET , McCarthy MI , Montgomery SB , Lappalainen T , MacArthur DG

Published On :2015 May 8

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.

Authors :Basak A , Hancarova M , Ulirsch JC , Balci TB , Trkova M , Pelisek M , Vlckova M , Muzikova K , Cermak J , Trka J , Dyment DA , Orkin SH , Daly MJ , Sedlacek Z , Sankaran VG

Published On :2015 Jun

Clinical Trial Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

Authors :Migliavacca E , Golzio C , Männik K , Blumenthal I , Oh EC , Harewood L , Kosmicki JA , Loviglio MN , Giannuzzi G , Hippolyte L , Maillard AM , Alfaiz AA , 16p11.2 European Consortium , van Haelst MM , Andrieux J , Gusella JF , Daly MJ , Beckmann JS , Jacquemont S , Talkowski ME , Katsanis N , Reymond A

Published On :2015 May 7

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

The North American Fetal Therapy Network Consensus Statement: prenatal management of uncomplicated monochorionic gestations.

Authors :Emery SP , Bahtiyar MO , Dashe JS , Wilkins-Haug LE , Johnson A , Paek BW , Moon-Grady AJ , Skupski DW , O'Brien BM , Harman CR , Simpson LL

Published On :2015 May

Consensus Statement Journal Article

(13)C MRS of human brain at 7 Tesla using [2-(13)C]glucose infusion and low power broadband stochastic proton decoupling.

Authors :Li S , An L , Yu S , Ferraris Araneta M , Johnson CS , Wang S , Shen J

Published On :2016 Mar

Journal Article Research Support, N.I.H., Intramural

Widespread macromolecular interaction perturbations in human genetic disorders.

Authors :Sahni N , Yi S , Taipale M , Fuxman Bass JI , Coulombe-Huntington J , Yang F , Peng J , Weile J , Karras GI , Wang Y , Kovács IA , Kamburov A , Krykbaeva I , Lam MH , Tucker G , Khurana V , Sharma A , Liu YY , Yachie N , Zhong Q , Shen Y , Palagi A , San-Miguel A , Fan C , Balcha D , Dricot A , Jordan DM , Walsh JM , Shah AA , Yang X , Stoyanova AK , Leighton A , Calderwood MA , Jacob Y , Cusick ME , Salehi-Ashtiani K , Whitesell LJ , Sunyaev S , Berger B , Barabási AL , Charloteaux B , Hill DE , Hao T , Roth FP , Xia Y , Walhout AJM , Lindquist S , Vidal M

Published On :2015 Apr 23

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

Gene Expression by Mouse Inner Ear Hair Cells during Development.

Authors :Scheffer DI , Shen J , Corey DP , Chen ZY

Published On :2015 Apr 22

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Authors :Mlynarski EE , Sheridan MB , Xie M , Guo T , Racedo SE , McDonald-McGinn DM , Gai X , Chow EW , Vorstman J , Swillen A , Devriendt K , Breckpot J , Digilio MC , Marino B , Dallapiccola B , Philip N , Simon TJ , Roberts AE , Piotrowicz M , Bearden CE , Eliez S , Gothelf D , Coleman K , Kates WR , Devoto M , Zackai E , Heine-Suñer D , Shaikh TH , Bassett AS , Goldmuntz E , Morrow BE , Emanuel BS , International Chromosome 22q11.2 Consortium

Published On :2015 May 7

Journal Article Research Support, N.I.H., Extramural