Publications | International Center for Genetic Disease at Harvard Medical School

Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease.

Authors :Kwon H , Son S , Morton SU , Wypij D , Cleveland J , Rollins CK , Huang H , Goldmuntz E , Panigrahy A , Thomas NH , Chung WK , Anagnostou E , Norris-Brilliant A , Gelb BD , McQuillen P , Porter GA Jr , Tristani-Firouzi M , Russell MW , Roberts AE , Newburger JW , Grant PE , Lee JM , Im K

Published On :2025 May

Journal Article

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes.

Authors :Verberkmoes S , Mazza GL , Edmondson AC , Scaglia F , Horikoshi S , Kuschel B , Janssen MCH , Mousa J , Larson A , Shah R , McDonald G , Sarafoglou K , Berry G , Kozicz T , Lam C , Morava E

Published On :2025 May

Journal Article

Contrastive graph auto-encoder for graph embedding.

Authors :Zu S , Li L , Shen J , Tang W

Published On :2025 Jul

Journal Article

ADAT3 variants disrupt the activity of the ADAT 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 , Kern Lovgren A , 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 , Rakiz Alqurashi M , Sbeih LZ , Adas Blanco OA , Khater RA , Oprea G , Rad A , 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 :2025 Mar 22

Journal Article

Impact of the American Society of Breast Surgeons' Guidelines on Genetic Testing and Contralateral Prophylactic Mastectomy Rates.

Authors :Weiss A , Rosito MS , Braun D , Barton B , McGrath M , Stokes S , Laws A , Warren L , Morganti S , Lynce F , Bychkovsky B , Rana HQ , Davis D , Stopfer J , Garber JE , King TA

Published On :2025 Mar 20

Journal Article

Very Early Use of Esmolol in Hyperkinetic Septic Shock Patients with Persistent Tachycardia: A Randomized Controlled Pilot Study.

Authors :Lu S , Kattan E , Pan C , Shen J , Zhang T , Wang P , Chen Y , He HL , Hernández G , Huang XB , Luo JC

Published On :2025 Mar 3

Journal Article

Engineering gene drive docking sites in a haplolethal locus in Anopheles gambiae.

Authors :Smidler AL , Marrogi EA , Scott S , Mameli E , Abernathy D , Akbari OS , Church GM , Catteruccia F , Esvelt K

Published On :2025 Mar 3

Journal Article

Recurrent patterns of widespread neuronal genomic damage shared by major neurodegenerative disorders.

Authors :Zhou Z , Luquette LJ , Dong G , Kim J , Ku J , Kim K , Bae M , Shao DD , Sahile B , Miller MB , Huang AY , Nathan WJ , Nussenzweig A , Park PJ , Lagier-Tourenne C , Lee EA , Walsh CA

Published On :2025 Mar 8

Journal Article

Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy.

Authors :Dong G , Ma CC , Mao S , Naik SM , Brown KS , McDonough GA , Kim J , Kirkham SL , Cherry JD , Uretsky M , Spurlock E , McKee AC , Huang AY , Miller MB , Lee EA , Walsh CA

Published On :2025 Mar 4

Journal Article

Biophysical basis for brain folding and misfolding patterns in ferrets and humans.

Authors :Choi GPT , Liu C , Yin S , Séjourné G , Smith RS , Walsh CA , Mahadevan L

Published On :2025 Mar 6

Journal Article

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.

Authors :Bergquist T , Stenton SL , Nadeau EAW , Byrne AB , Greenblatt MS , Harrison SM , Tavtigian SV , O'Donnell-Luria A , Biesecker LG , Radivojac P , Brenner SE , Pejaver V , ClinGen Sequence Variant Interpretation Working Group

Published On :2025 Mar 10

Journal Article