Publications | International Center for Genetic Disease at Harvard Medical School

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 Oct

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 May

Journal Article

Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL.

Authors :Carbonell E , Stenton SL , Ganesh VS , Ma J , VanNoy GE , Pais L , Gaitanis JN , O'Leary MC , Rehm HL , O'Donnell-Luria A

Published On :2025 Apr 10

Journal Article

Development and Validation of a Predictive Model for Anxiety Trajectories in Patients with Breast Cancer: A Retrospective Study.

Authors :Li X , Wei BK , Li F , Yan HH , Shen J

Published On :2025

Journal Article

Active cell proliferation contributes to the enlargement of the nascent nucleus pulposus.

Authors :Long RG , Lee C , Tabin CJ

Published On :2025 Oct

Journal Article

[Retracted] Naringenin has a chemoprotective effect in MDA‑MB‑231 breast cancer cells via inhibition of caspase‑3 and ‑9 activities.

Authors :Wang R , Wang J , Dong T , Shen J , Gao X , Zhou J

Published On :2025 Apr

Journal Article

Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank.

Authors :Davis SM , Liu A , Teerlink CC , Lapato DM , Gorman B , Genovese G , Singh M , Reeve MP , Gentry AE , Donner KM , Sipilä TP , Ghazal A , Pagadala MS , Panizzon MS , Lancaster EE , FinnGen banner authorship , UKB working group authorship , Chatzinakos C , Ganna A , Bigdeli TB , Daly MJ , Lynch JA , Ross J , Peterson RE , Hauger RL

Published On :2025 Feb 2

Journal Article

Patient Determinants and Effects on Adherence of Adverse Drug Reactions to Tuberculosis Treatment: A Prospective Cohort Analysis.

Authors :Tzelios CA , Malatesta S , Carney T , White LF , Weber SE , Thomson S , Theron D , Myers B , Parry CDH , Warren RM , Horsburgh CR , Farhat MR , Jacobson KR

Published On :2025 Aug 1

Journal Article