Publications | International Center for Genetic Disease at Harvard Medical School

Insulin resistance in cavefish as an adaptation to a nutrient-limited environment.

Authors :Riddle MR , Aspiras AC , Gaudenz K , Peuß R , Sung JY , Martineau B , Peavey M , Box AC , Tabin JA , McGaugh S , Borowsky R , Tabin CJ , Rohner N

Published On :2018 Mar 29

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

Antibiotic impregnated total femur spacers: a technical tip.

Authors :Canham CD , Walsh CP , Incavo SJ

Published On :2018 Mar

Journal Article

Germline Lysine-Specific Demethylase 1 (LSD1/KDM1A) Mutations Confer Susceptibility to Multiple Myeloma.

Authors :Wei X , Calvo-Vidal MN , Chen S , Wu G , Revuelta MV , Sun J , Zhang J , Walsh MF , Nichols KE , Joseph V , Snyder C , Vachon CM , McKay JD , Wang SP , Jayabalan DS , Jacobs LM , Becirovic D , Waller RG , Artomov M , Viale A , Patel J , Phillip J , Chen-Kiang S , Curtin K , Salama M , Atanackovic D , Niesvizky R , Landgren O , Slager SL , Godley LA , Churpek J , Garber JE , Anderson KC , Daly MJ , Roeder RG , Dumontet C , Lynch HT , Mullighan CG , Camp NJ , Offit K , Klein RJ , Yu H , Cerchietti L , Lipkin SM

Published On :2018 May 15

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

Precise Cas9 targeting enables genomic mutation prevention.

Authors :Chavez A , Pruitt BW , Tuttle M , Shapiro RS , Cecchi RJ , Winston J , Turczyk BM , Tung M , Collins JJ , Church GM

Published On :2018 Apr 3

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.

Have we done our last amniocentesis? Updates on cell-free DNA for Down syndrome screening.

Authors :Gray KJ , Wilkins-Haug LE

Published On :2018 Apr

Journal Article Review

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.

Authors :Hall PL , Lam C , Alexander JJ , Asif G , Berry GT , Ferreira C , Freeze HH , Gahl WA , Nickander KK , Sharer JD , Watson CM , Wolfe L , Raymond KM

Published On :2018 May

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

Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium.

Authors :Sanders SJ , Neale BM , Huang H , Werling DM , An JY , Dong S , Abecasis G , Arguello PA , Blangero J , Boehnke M , Daly MJ , Eggan K , Geschwind DH , Glahn DC , Goldstein DB , Gur RE , Handsaker RE , McCarroll SA , Ophoff RA , Palotie A , Pato CN , Sabatti C , State MW , Willsey AJ , Hyman SE , Addington AM , Lehner T , Freimer NB , Whole Genome Sequencing for Psychiatric Disorders (WGSPD)

Published On :2018 Jul

Published Erratum

Investigation on the factors that influence the prevalence of thyroid nodules in adults in Tianjin, China.

Authors :Fan L , Tan L , Chen Y , Du C , Zhu M , Wang K , Wei H , Wang W , Gao M , Zhang Y , Cui T , Chen W , Shen J , Zhang W

Published On :2018 Dec

Journal Article

Association of neck circumference and cognitive impairment among Chinese elderly.

Authors :Chen JM , Li QW , Jiang GX , Zeng SJ , Shen J , Sun J , Wu DH , Cheng Q

Published On :2018 Mar

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

Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.

Authors :Rana HQ , Gelman R , LaDuca H , McFarland R , Dalton E , Thompson J , Speare V , Dolinsky JS , Chao EC , Garber JE

Published On :2018 Aug 1

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

Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing.

Authors :Artomov M , Stratigos AJ , Kim I , Kumar R , Lauss M , Reddy BY , Miao B , Daniela Robles-Espinoza C , Sankar A , Njauw CN , Shannon K , Gragoudas ES , Marie Lane A , Iyer V , Newton-Bishop JA , Timothy Bishop D , Holland EA , Mann GJ , Singh T , Daly MJ , Tsao H

Published On :2017 Dec 1

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