Publications | International Center for Genetic Disease at Harvard Medical School

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

The genetic and molecular basis for sunscreen biosynthesis in cyanobacteria.

Authors :Balskus EP , Walsh CT

Published On :2010 Sep 24

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

Integrating common and rare genetic variation in diverse human populations.

Authors :International HapMap 3 Consortium , Altshuler DM , Gibbs RA , Peltonen L , Altshuler DM , Gibbs RA , Peltonen L , Dermitzakis E , Schaffner SF , Yu F , Peltonen L , Dermitzakis E , Bonnen PE , Altshuler DM , Gibbs RA , de Bakker PI , Deloukas P , Gabriel SB , Gwilliam R , Hunt S , Inouye M , Jia X , Palotie A , Parkin M , Whittaker P , Yu F , Chang K , Hawes A , Lewis LR , Ren Y , Wheeler D , Gibbs RA , Muzny DM , Barnes C , Darvishi K , Hurles M , Korn JM , Kristiansson K , Lee C , McCarrol SA , Nemesh J , Dermitzakis E , Keinan A , Montgomery SB , Pollack S , Price AL , Soranzo N , Bonnen PE , Gibbs RA , Gonzaga-Jauregui C , Keinan A , Price AL , Yu F , Anttila V , Brodeur W , Daly MJ , Leslie S , McVean G , Moutsianas L , Nguyen H , Schaffner SF , Zhang Q , Ghori MJ , McGinnis R , McLaren W , Pollack S , Price AL , Schaffner SF , Takeuchi F , Grossman SR , Shlyakhter I , Hostetter EB , Sabeti PC , Adebamowo CA , Foster MW , Gordon DR , Licinio J , Manca MC , Marshall PA , Matsuda I , Ngare D , Wang VO , Reddy D , Rotimi CN , Royal CD , Sharp RR , Zeng C , Brooks LD , McEwen JE

Published On :2010 Sep 2

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

Founder population-specific HapMap panel increases power in GWA studies through improved imputation accuracy and CNV tagging.

Authors :Surakka I , Kristiansson K , Anttila V , Inouye M , Barnes C , Moutsianas L , Salomaa V , Daly M , Palotie A , Peltonen L , Ripatti S

Published On :2010 Oct

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

Targeting EGFR-overexpressing tumor cells using Cetuximab-immunomicelles loaded with doxorubicin and superparamagnetic iron oxide.

Authors :Liao C , Sun Q , Liang B , Shen J , Shuai X

Published On :2011 Dec

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

Collection and motif-based prediction of phosphorylation sites in human viruses.

Authors :Schwartz D , Church GM

Published On :2010 Aug 31

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

Enzymatic processing of fumiquinazoline F: a tandem oxidative-acylation strategy for the generation of multicyclic scaffolds in fungal indole alkaloid biosynthesis.

Authors :Ames BD , Liu X , Walsh CT

Published On :2010 Oct 5

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

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

Authors :Anttila V , Stefansson H , Kallela M , Todt U , Terwindt GM , Calafato MS , Nyholt DR , Dimas AS , Freilinger T , Müller-Myhsok B , Artto V , Inouye M , Alakurtti K , Kaunisto MA , Hämäläinen E , de Vries B , Stam AH , Weller CM , Heinze A , Heinze-Kuhn K , Goebel I , Borck G , Göbel H , Steinberg S , Wolf C , Björnsson A , Gudmundsson G , Kirchmann M , Hauge A , Werge T , Schoenen J , Eriksson JG , Hagen K , Stovner L , Wichmann HE , Meitinger T , Alexander M , Moebus S , Schreiber S , Aulchenko YS , Breteler MM , Uitterlinden AG , Hofman A , van Duijn CM , Tikka-Kleemola P , Vepsäläinen S , Lucae S , Tozzi F , Muglia P , Barrett J , Kaprio J , Färkkilä M , Peltonen L , Stefansson K , Zwart JA , Ferrari MD , Olesen J , Daly M , Wessman M , van den Maagdenberg AM , Dichgans M , Kubisch C , Dermitzakis ET , Frants RR , Palotie A , International Headache Genetics Consortium

Published On :2010 Oct

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