Publications | International Center for Genetic Disease at Harvard Medical School

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

Corrigendum to "Multifunctional films based on tannic acid-coated cellulose nanocrystals and zinc-coating reinforced sodium carboxymethyl cellulose/polyvinyl alcohol for food active packaging" [Int. J. Biol. Macromol. 302 (2025) 140587].

Authors :Wang X , Shen J , Zheng D , Qi F , Li L

Published On :2025 May

Published Erratum

Circular Vectors as an efficient, fully synthetic, cell-free approach for preparing small circular DNA as a plasmid substitute for guide RNA expression in CRISPR-Cas9 genome editing.

Authors :Oliynyk RT , Church GM

Published On :2025 Feb 24

Journal Article Review

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.

Authors :Tshering KC , DiStefano MT , Oza AM , Ajuyah P , Webb R , Edoh E , Broeren E , Ratliff J , Gitau V , Paris K , Aburyyan A , Alexander J , Albano V , Bai D , Booth KTA , Buonfiglio PI , Charfeddine C , Dalamón V , Castillo ID , Moreno-Pelayo MA , Duzkale H , Dorshorst B , Faridi R , Kenna M , Lewis MA , Luo M , Lu Y , Mkaouar R , Matsunaga T , Nara K , Pandya A , Redfield S , Roux I , Schimmenti LA , Schrauwen I , Shaaban S , Shen J , Vona B , Smith RJ , Rehm HL , Azaiez H , Abou Tayoun AN , Amr SS , ClinGen Hearing Loss Clinical Domain Working Group

Published On :2025 Feb 19

Journal Article