Publications | International Center for Genetic Disease at Harvard Medical School

SCGB1D2 inhibits growth of Borrelia burgdorferi and affects susceptibility to Lyme disease.

Authors :Strausz S , Abner E , Blacker G , Galloway S , Hansen P , Feng Q , Lee BT , Jones SE , Haapaniemi H , Raak S , Nahass GR , Sanders E , FinnGen , Estonian Genome Centre , Estonian Biobank Research Team , Soodla P , Võsa U , Esko T , Sinnott-Armstrong N , Weissman IL , Daly M , Aivelo T , Tal MC , Ollila HM

Published On :2024 Mar 19

Journal Article

Contrasting somatic mutation patterns in aging human neurons and oligodendrocytes.

Authors :Ganz J , Luquette LJ , Bizzotto S , Miller MB , Zhou Z , Bohrson CL , Jin H , Tran AV , Viswanadham VV , McDonough G , Brown K , Chahine Y , Chhouk B , Galor A , Park PJ , Walsh CA

Published On :2024 Apr 11

Journal Article

Thrombosis risk in single- and double-heterozygous carriers of factor V Leiden and prothrombin G20210A in FinnGen and the UK Biobank.

Authors :Ryu J , Rämö JT , Jurgens SJ , Niiranen T , Sanna-Cherchi S , Bauer KA , Haj A , Choi SH , Palotie A , Daly M , Ellinor PT , Bendapudi PK

Published On :2024 Jun 6

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

Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA.

Authors :Ganesh VS , Riquin K , Chatron N , Lamar KM , Aziz MC , Monin P , O'Leary M , Goodrich JK , Garimella KV , England E , Yoon E , Weisburd B , Aguet F , Bacino CA , Murdock DR , Dai H , Rosenfeld JA , Emrick LT , Ketkar S , Undiagnosed Diseases Network , Sarusi Y , Sanlaville D , Kayani S , Broadbent B , Isidor B , Pengam A , Cogné B , MacArthur DG , Ulitsky I , Carvill GL , O'Donnell-Luria A

Published On :2024 Feb 7

Preprint Journal Article

Deep sequencing of proteotoxicity modifier genes uncovers a Presenilin-2/beta-amyloid-actin genetic risk module shared among alpha-synucleinopathies.

Authors :Nazeen S , Wang X , Zielinski D , Lam I , Hallacli E , Xu P , Ethier E , Strom R , Zanella CA , Nithianandam V , Ritter D , Henderson A , Saurat N , Afroz J , Nutter-Upham A , Benyamini H , Copty J , Ravishankar S , Morrow A , Mitchel J , Neavin D , Gupta R , Farbehi N , Grundman J , Myers RH , Scherzer CR , Trojanowski JQ , Van Deerlin VM , Cooper AA , Lee EB , Erlich Y , Lindquist S , Peng J , Geschwind DH , Powell J , Studer L , Feany MB , Sunyaev SR , Khurana V

Published On :2024 Mar 7

Preprint Journal Article

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.

Authors :Stenton SL , Pejaver V , Bergquist T , Biesecker LG , Byrne AB , Nadeau E , Greenblatt MS , Harrison S , Tavtigian S , Radivojac P , Brenner SE , O'Donnell-Luria A

Published On :2024 Mar 7

Preprint Journal Article

Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.

Authors :Del-Pozo-Rodriguez J , Tilly P , Lecat R , Vaca HR , Mosser L , Brivio E , Balla T , Gomes MV , Ramos-Morales E , Schwaller N , Salinas-Giegé T , VanNoy G , England EM , Lovgren AK , O'Leary M , Chopra M , Ojeda NM , Toosi MB , Eslahi A , Alerasool M , Mojarrad M , Pais LS , Yeh RC , Gable DL , Hashem MO , Abdulwahab F , Alzaidan H , Aldhalaan H , Tous E , Alsagheir A , Alowain M , Tamim A , Alfayez K , Alhashem A , Alnuzha A , Kamel M , Al-Awam BS , Elnaggar W , Almenabawy N , O'Donnell-Luria A , Neil JE , Gleeson JG , Walsh CA , Alkuraya FS , AlAbdi L , Elkhateeb N , Selim L , Srivastava S , Nedialkova DD , Drouard L , Romier C , Bayam E , Godin JD

Published On :2024 Nov 18

Journal Article Preprint

Metabolic coupling between glutamate and N-acetylaspartate in the human brain.

Authors :Hong S , Tomar JS , Shen J

Published On :2024 Sep

Journal Article

DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia.

Authors :Wang AS , Lemire G , VanNoy GE , Austin-Tse C , O'Donnell-Luria A , Kilbane C

Published On :2023 Dec

Journal Article

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Authors :Pan X , Tao AM , Lu S , Ma M , Hannan SB , Slaugh R , Drewes Williams S , O'Grady L , Kanca O , Person R , Carter MT , Platzer K , Schnabel F , Abou Jamra R , Roberts AE , Newburger JW , Revah-Politi A , Granadillo JL , Stegmann APA , Sinnema M , Accogli A , Salpietro V , Capra V , Ghaloul-Gonzalez L , Brueckner M , Simon MEH , Sweetser DA , Glinton KE , Kirk SE , Baylor College of Medicine Center for Precision Medicine Models , Wangler MF , Yamamoto S , Chung WK , Bellen HJ

Published On :2024 Apr 4

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

Comparative Analysis of Six Complete Plastomes of Tripterospermum spp.

Authors :Tu XD , Lin WJ , Fu HH , Lin YZ , Shen J , Chen S , Liu ZJ , Li MH , Chen SP

Published On :2024 Feb 22

Journal Article

Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.

Authors :Rana HQ , Koeller DR , Walker M , Unal B , Levine AS , Chittenden A , Isidro RA , Hayes CP , Manam MD , Buehler RM , Manning DK , Barletta JA , Hornick JL , Garber JE , Ghazani AA , Int2grate Oncology Consortium

Published On :2024 Feb 26

Journal Article

CT-based pancreatic radiomics predicts secondary loss of response to infliximab in biologically naïve patients with Crohn's disease.

Authors :Yang T , Feng J , Yao R , Feng Q , Shen J

Published On :2024 Mar 13

Journal Article

Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.

Authors :Urpa L , Kurki MI , Rahikkala E , Hämäläinen E , Salomaa V , Suvisaari J , Keski-Filppula R , Rauhala M , Korpi-Heikkilä S , Komulainen-Ebrahim J , Helander H , Vieira P , Uusimaa J , Moilanen JS , Körkkö J , Singh T , Kuismin O , Pietiläinen O , Palotie A , Daly MJ

Published On :2024 May

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

Evaluating generalizability of artificial intelligence models for molecular datasets.

Authors :Ektefaie Y , Shen A , Bykova D , Marin M , Zitnik M , Farhat M

Published On :2024 Feb 28

Preprint Journal Article