Publications | International Center for Genetic Disease at Harvard Medical School

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 Jun

Journal Article

Research Progress in Metabolism-Related Diseases and Formation Mechanism of Calcium Oxalate Stones.

Authors :Wei-Hu C , Jun S , Sha-Sha X , Qiang W

Published On :2025 Feb

Journal Article Review

Caspase-8 activation regulates enterovirus D68 infection-induced inflammatory response and cell death.

Authors :Zhou Y , Zhang C , Zhang Y , Li F , Shen J

Published On :2024 Jun

Journal Article

Patch Fusion: A Novel Ultrafast Multi-Frequency Ultrasound Fusion Imaging Method for Pedicle Screw Navigation.

Authors :Li X , Yang X , Li J , Jiao Y , Shen J , Cui Y , Shao W

Published On :2025 Apr

Journal Article

Ambiently Dried Aerogel-Foam Composites with Gradient Pore Structure for Enhanced Sound Absorption.

Authors :Fan C , Yang J , Rui M , Yang J , Shi T , Shen J , Zhou B , Liu C , Zhu J , Du A

Published On :2025 Mar 26

Journal Article

The Ulcerative Colitis-Associated Gene NXPE1 Catalyzes Glycan Modifications on Colonic Mucin.

Authors :Humeidi R , Oshiro-Rapley N , Gu X , An JS , Ananthakrishnan AN , Creasey EA , Daly MJ , Schreiber SL , Graham DB , Seyedsayamdost MR , Xavier RJ

Published On :2025 Mar 26

Journal Article

Dynamic niche technology based hybrid breeding optimization algorithm for multimodal feature selection.

Authors :Cai T , Ma F , Ye Z , Zhou W , Wang M , He Q , Pan H , Shen J

Published On :2025 Mar 7

Journal Article

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency Presenting as Hyperammonemia and Encephalopathy: Case Series.

Authors :Viguera Altolaguirre C , Stergachis AB , Sweetser DA , Gold NB

Published On :2025 Mar 4

Journal Article

25 Years of Minimally Invasive Surgery and Biologics in Regenerative Periodontal Therapy.

Authors :Rasperini G , Avila-Ortiz G , Pagni G , Giannobile WV

Published On :2025 Mar 6

Journal Article

Phenylketonuria in adults: we know plenty, but there is much more to learn.

Authors :Harding CO , Arnold G , Berry GT , Christ SE , Grange DK , Jurecki E , Levy H , Lichter-Konecki U , Longo N , McNutt M , Meachum P , Sacharow S , Shayota B , Thomas J , Vucko E , Members of the PHEFREE Consortium

Published On :2025 Mar

Letter

Factors influencing patient safety competence among Chinese vocational nursing students: A mixed-methods study using COM-B model and theoretical domains framework.

Authors :Zhou L , Sun Y , Xiao M , Yang R , Zheng S , Shen J , Zhao Q

Published On :2025 Jun

Journal Article

Multivariable regression models improve accuracy and sensitive grading of antibiotic resistance mutations in Mycobacterium tuberculosis.

Authors :Kulkarni SG , Laurent S , Miotto P , Walker TM , Chindelevitch L , Nathanson CM , Ismail N , Rodwell TC , Farhat MR

Published On :2025 Mar 4

Journal Article

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Authors :Dong W , Jin SC , Sierant MC , Lu Z , Li B , Lu Q , Morton SU , Zhang J , López-Giráldez F , Nelson-Williams C , Knight JR , Zhao H , Cao J , Mane S , Gruber PJ , Lek M , Goldmuntz E , Deanfield J , Giardini A , Mital S , Russell M , Gaynor JW , Cnota JF , Wagner M , Srivastava D , Bernstein D , Porter GA Jr , Newburger J , Roberts AE , Yandell M , Yost HJ , Tristani-Firouzi M , Kim R , Seidman J , Chung WK , Gelb BD , Seidman CE , Lifton RP , Brueckner M

Published On :2025 Mar 11

Journal Article