Publications | International Center for Genetic Disease at Harvard Medical School

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 Research Support, N.I.H., Intramural

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

Exploring gene content with pangene graphs.

Authors :Li H , Marin M , Farhat MR

Published On :2024 May 29

Journal Article Preprint

Minimally invasive puncture and drainage guided by 3D printed guide plate for the treatment of primary brain stem hemorrhage.

Authors :Shen J , Chen Q , Tong Q , Tian X , Han Q

Published On :2024 Jun

Letter Case Reports

Associations between neutrophil-to-lymphocyte/platelet-to-lymphocyte and recovery in sudden sensorineural hearing loss.

Authors :Huang X , Ni X , Shen J , Chen L , Xu L , Tang X

Published On :2024 Feb

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

Analysis of immunoinfiltration and EndoMT based on TGF-β signaling pathway-related genes in acute myocardial infarction.

Authors :Shen J , Liang J , Rejiepu M , Ma Z , Zhao J , Li J , Zhang L , Yuan P , Wang J , Tang B

Published On :2024 Mar 2

Journal Article

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Authors :Töpf A , Cox D , Zaharieva IT , Di Leo V , Sarparanta J , Jonson PH , Sealy IM , Smolnikov A , White RJ , Vihola A , Savarese M , Merteroglu M , Wali N , Laricchia KM , Venturini C , Vroling B , Stenton SL , Cummings BB , Harris E , Marini-Bettolo C , Diaz-Manera J , Henderson M , Barresi R , Duff J , England EM , Patrick J , Al-Husayni S , Biancalana V , Beggs AH , Bodi I , Bommireddipalli S , Bönnemann CG , Cairns A , Chiew MT , Claeys KG , Cooper ST , Davis MR , Donkervoort S , Erasmus CE , Fassad MR , Genetti CA , Grosmann C , Jungbluth H , Kamsteeg EJ , Lornage X , Löscher WN , Malfatti E , Manzur A , Martí P , Mongini TE , Muelas N , Nishikawa A , O'Donnell-Luria A , Ogonuki N , O'Grady GL , O'Heir E , Paquay S , Phadke R , Pletcher BA , Romero NB , Schouten M , Shah S , Smuts I , Sznajer Y , Tasca G , Taylor RW , Tuite A , Van den Bergh P , VanNoy G , Voermans NC , Wanschitz JV , Wraige E , Yoshimura K , Oates EC , Nakagawa O , Nishino I , Laporte J , Vilchez JJ , MacArthur DG , Sarkozy A , Cordell HJ , Udd B , Busch-Nentwich EM , Muntoni F , Straub V

Published On :2024 Mar

Journal Article