Publications | International Center for Genetic Disease at Harvard Medical School

Brachyury promotes proliferation and migration of hepatocellular carcinoma via facilitating the transcription of NCAPG2.

Authors :Li S , Lu Y , Xu Y , Zhang C , Liu B , Qin A , Qiao Z , Shen C , Shen J , Liang Y , Wu J , Jiang X

Published On :2022

Journal Article

Efficient and accurate frailty model approach for genome-wide survival association analysis in large-scale biobanks.

Authors :Dey R , Zhou W , Kiiskinen T , Havulinna A , Elliott A , Karjalainen J , Kurki M , Qin A , FinnGen , Lee S , Palotie A , Neale B , Daly M , Lin X

Published On :2022 Sep 16

Journal Article

Rational Design of Mesoporous CuO-CeO(2) Catalysts for NH(3)-SCR Applications Guided by Multiple In Situ Spectroscopies.

Authors :Shen J , Lauterbach S , Hess C

Published On :2022 Sep 28

Journal Article

Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer.

Authors :Esplin ED , Nielsen SM , Bristow SL , Garber JE , Hampel H , Rana HQ , Samadder NJ , Shore ND , Nussbaum RL

Published On :2022 Sep

Journal Article

Shared pathobiology identifies AMPK as a therapeutic target for obesity and autosomal dominant polycystic kidney disease.

Authors :Iliuta IA , Song X , Pickel L , Haghighi A , Retnakaran R , Scholey J , Sung HK , Steinberg GR , Pei Y

Published On :2022

Journal Article Review

Addition of Germline Testing to Tumor-Only Sequencing Improves Detection of Pathogenic Germline Variants in Men With Advanced Prostate Cancer.

Authors :Berchuck JE , Boiarsky D , Silver R , Sunkara R , McClure HM , Tsai HK , Siegmund S , Tewari AK , Nowak JA , Lindeman NI , Rana HQ , Choudhury AD , Pomerantz MM , Freedman ML , Van Allen EM , Taplin ME

Published On :2022 Aug

Clinical Trial Journal Article

Covalent Catalytic Strategies for Enzymes That Modify RNA Molecules on their Tripartite Building Blocks.

Authors :Walsh CT

Published On :2022 Oct 21

Journal Article Review

A neural stem cell paradigm of pediatric hydrocephalus.

Authors :Duy PQ , Rakic P , Alper SL , Robert SM , Kundishora AJ , Butler WE , Walsh CA , Sestan N , Geschwind DH , Jin SC , Kahle KT

Published On :2023 Apr 4

Journal Article

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.

Authors :Katler QS , Stepien KM , Paull N , Patel S , Adams M , Balci MC , Berry GT , Bosch AM , DeLaO A , Demirbas D , Edman J , Ficicioglu C , Goff M , Hacker S , Knerr I , Lancaster K , Li H , Mendelsohn BA , Nichols B , de Rezende Pinto WBV , Rocha JC , Rubio-Gozalbo ME , Saad-Naguib M , Scholl-Buergi S , Searcy S , de Souza PVS , Wittenauer A , Fridovich-Keil JL

Published On :2022 Nov

Journal Article

An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.

Authors :Schwartz A , Manning DK , Koeller DR , Chittenden A , Isidro RA , Hayes CP , Abraamyan F , Manam MD , Dwan M , Barletta JA , Sholl LM , Yurgelun MB , Rana HQ , Garber JE , Ghazani AA

Published On :2022

Journal Article

Response of human periodontal ligament to orthodontic force using superb microvascular imaging.

Authors :Wu C , Liu X , Zhang H , Zhang Q , Ding S , Jin S , Zheng X , Fu C , Han Q , Shen J , Xu J , Ye N , Jiang F , Wu T

Published On :2022 Nov

Journal Article

Synthesis and application of chitosan thiourea derivatives as chiral stationary phases in HPLC.

Authors :Deng H , Wu X , Zhang L , Shen J , Qiao Y , Wang X , Bai C , Zheng T , Okamoto Y

Published On :2022 Nov 15

Journal Article

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.

Authors :Huang Y , Lemire G , Briere LC , Liu F , Wessels MW , Wang X , Osmond M , Kanca O , Lu S , High FA , Walker MA , Rodan LH , Undiagnosed Diseases Network , Care4Rare Canada Consortium , Kernohan KD , Sweetser DA , Boycott KM , Bellen HJ

Published On :2022 Oct 6

Journal Article

Dl-3-n-butylphthalide prevents chronic restraint stress-induced depression-like behaviors and cognitive impairment via regulating CaMKII/CREB/BDNF signaling pathway in hippocampus.

Authors :Shen J , Yang L , Wei W

Published On :2022 Oct 5

Journal Article

Galactose epimerase deficiency: lessons from the GalNet registry.

Authors :Derks B , Demirbas D , Arantes RR , Banford S , Burlina AB , Cabrera A , Chiesa A , Couce ML , Dionisi-Vici C , Gautschi M , Grünewald S , Morava E , Möslinger D , Scholl-Bürgi S , Skouma A , Stepien KM , Timson DJ , Berry GT , Rubio-Gozalbo ME

Published On :2022 Sep 2

Journal Article