Publications | International Center for Genetic Disease at Harvard Medical School

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies.

Authors :Assimes TL , Hólm H , Kathiresan S , Reilly MP , Thorleifsson G , Voight BF , Erdmann J , Willenborg C , Vaidya D , Xie C , Patterson CC , Morgan TM , Burnett MS , Li M , Hlatky MA , Knowles JW , Thompson JR , Absher D , Iribarren C , Go A , Fortmann SP , Sidney S , Risch N , Tang H , Myers RM , Berger K , Stoll M , Shah SH , Thorgeirsson G , Andersen K , Havulinna AS , Herrera JE , Faraday N , Kim Y , Kral BG , Mathias RA , Ruczinski I , Suktitipat B , Wilson AF , Yanek LR , Becker LC , Linsel-Nitschke P , Lieb W , König IR , Hengstenberg C , Fischer M , Stark K , Reinhard W , Winogradow J , Grassl M , Grosshennig A , Preuss M , Schreiber S , Wichmann HE , Meisinger C , Yee J , Friedlander Y , Do R , Meigs JB , Williams G , Nathan DM , MacRae CA , Qu L , Wilensky RL , Matthai WH Jr , Qasim AN , Hakonarson H , Pichard AD , Kent KM , Satler L , Lindsay JM , Waksman R , Knouff CW , Waterworth DM , Walker MC , Mooser VE , Marrugat J , Lucas G , Subirana I , Sala J , Ramos R , Martinelli N , Olivieri O , Trabetti E , Malerba G , Pignatti PF , Guiducci C , Mirel D , Parkin M , Hirschhorn JN , Asselta R , Duga S , Musunuru K , Daly MJ , Purcell S , Eifert S , Braund PS , Wright BJ , Balmforth AJ , Ball SG , Myocardial Infarction Genetics Consortium , Wellcome Trust Case Control Consortium , Cardiogenics , Ouwehand WH , Deloukas P , Scholz M , Cambien F , Huge A , Scheffold T , Salomaa V , Girelli D , Granger CB , Peltonen L , McKeown PP , Altshuler D , Melander O , Devaney JM , Epstein SE , Rader DJ , Elosua R , Engert JC , Anand SS , Hall AS , Ziegler A , O'Donnell CJ , Spertus JA , Siscovick D , Schwartz SM , Becker D , Thorsteinsdottir U , Stefansson K , Schunkert H , Samani NJ , Quertermous T

Published On :2010 Nov 2

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

LRRK2 is involved in the IFN-gamma response and host response to pathogens.

Authors :Gardet A , Benita Y , Li C , Sands BE , Ballester I , Stevens C , Korzenik JR , Rioux JD , Daly MJ , Xavier RJ , Podolsky DK

Published On :2010 Nov 1

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

Effect of acamprosate on magnetic resonance spectroscopy measures of central glutamate in detoxified alcohol-dependent individuals: a randomized controlled experimental medicine study.

Authors :Umhau JC , Momenan R , Schwandt ML , Singley E , Lifshitz M , Doty L , Adams LJ , Vengeliene V , Spanagel R , Zhang Y , Shen J , George DT , Hommer D , Heilig M

Published On :2010 Oct

Journal Article Randomized Controlled Trial Research Support, N.I.H., Intramural

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.

Authors :Yu TW , Mochida GH , Tischfield DJ , Sgaier SK , Flores-Sarnat L , Sergi CM , Topçu M , McDonald MT , Barry BJ , Felie JM , Sunu C , Dobyns WB , Folkerth RD , Barkovich AJ , Walsh CA

Published On :2010 Nov

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

Mutation in PQBP1 is associated with periventricular heterotopia.

Authors :Sheen VL , Torres AR , Du X , Barry B , Walsh CA , Kimonis VE

Published On :2010 Nov

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

13C MRS of occipital and frontal lobes at 3 T using a volume coil for stochastic proton decoupling.

Authors :Li S , Zhang Y , Wang S , Araneta MF , Johnson CS , Xiang Y , Innis RB , Shen J

Published On :2010 Oct

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

Promotion of oral, dental, and craniofacial research.

Authors :Giannobile WV

Published On :2010 Oct

Editorial

Noonan syndrome: clinical features, diagnosis, and management guidelines.

Authors :Romano AA , Allanson JE , Dahlgren J , Gelb BD , Hall B , Pierpont ME , Roberts AE , Robinson W , Takemoto CM , Noonan JA

Published On :2010 Oct

Journal Article Review

Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies.

Authors :Li Y , Ptolemy AS , Harmonay L , Kellogg M , Berry GT

Published On :2011 Jan

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

Prephenate decarboxylases: a new prephenate-utilizing enzyme family that performs nonaromatizing decarboxylation en route to diverse secondary metabolites.

Authors :Mahlstedt S , Fielding EN , Moore BS , Walsh CT

Published On :2010 Oct 26

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

Classic chordoma coexisting with benign notochordal cell rest demonstrating different immunohistological expression patterns of brachyury and galectin-3.

Authors :Shen J , Li CD , Yang HL , Lu J , Zou TM , Wang DL , Deng M

Published On :2011 Jan

Journal Article

Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia.

Authors :Cavazzana-Calvo M , Payen E , Negre O , Wang G , Hehir K , Fusil F , Down J , Denaro M , Brady T , Westerman K , Cavallesco R , Gillet-Legrand B , Caccavelli L , Sgarra R , Maouche-Chrétien L , Bernaudin F , Girot R , Dorazio R , Mulder GJ , Polack A , Bank A , Soulier J , Larghero J , Kabbara N , Dalle B , Gourmel B , Socie G , Chrétien S , Cartier N , Aubourg P , Fischer A , Cornetta K , Galacteros F , Beuzard Y , Gluckman E , Bushman F , Hacein-Bey-Abina S , Leboulch P

Published On :2010 Sep 16

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

Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function.

Authors :Raychaudhuri S , Korn JM , McCarroll SA , International Schizophrenia Consortium , Altshuler D , Sklar P , Purcell S , Daly MJ

Published On :2010 Sep 9

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

Identification of the biosynthetic gene cluster for the pacidamycin group of peptidyl nucleoside antibiotics.

Authors :Zhang W , Ostash B , Walsh CT

Published On :2010 Sep 28

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

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

Authors :Calvo SE , Tucker EJ , Compton AG , Kirby DM , Crawford G , Burtt NP , Rivas M , Guiducci C , Bruno DL , Goldberger OA , Redman MC , Wiltshire E , Wilson CJ , Altshuler D , Gabriel SB , Daly MJ , Thorburn DR , Mootha VK

Published On :2010 Oct

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