Publications | International Center for Genetic Disease at Harvard Medical School

High-mechanical properties, anti-freezing, and self-regeneration zwitterionic poly (ionic liquid) hydrogel reinforced by cellulose nanofibers for strain sensor applications.

Authors :Fu D , Xing L , Xie Y , Shen J

Published On :2025 Aug

Journal Article

Missense variants in TUBA4A cause myo-tubulinopathies.

Authors :Johari M , Folland C , Saito Y , Oud MM , Parmar JM , Töpf A , Kurbatov S , Ampleeva M , Zakharova EY , Chekmareva IA , Shirokova KS , Atiakshin D , Gardeitchik T , Kamsteeg EJ , Medici E , Kaat LD , Bruels CC , Stafki SA , Estrella EA , Littel HR , Kunkel LM , Kang PB , Osei-Owusu I , Pais L , O'Leary M , Austin-Tse C , O'Donnell-Luria A , Mangilog B , Radio FC , D'Amico A , Ciolfi A , Tartaglia M , Perrin A , Van Goethem C , Sole G , Martin-Négrier ML , Cossée M , Genetti CA , Valivullah ZM , Milic V , Kovacevic G , Kosac A , Moreno CAM , Camelo CG , Zanoteli E , Fahey MC , Beggs AH , Vissing J , Straub V , Savarese M , Tasca G , Voermans N , Laing NG , Udd B , Nishino I , Ravenscroft G

Published On :2025 Jun 28

Journal Article Preprint

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Authors :Hua M , Aghanoori MR , MacPherson M , Ren Y , Yang Y , Or YY , Williams L , Gafuik CJ , Quelin C , Keren B , Schuhmann S , Vasileiou G , Bourgois A , Vitobello A , Philippe C , Stark Z , Leventer RJ , Tran-Mau-Them F , Tessarech M , Prouteau C , Lakeman P , Motazacker M , Latner DR , Caylor R , Prijoles E , Lichty A , van Ierland Y , Sweetser D , Steel E , Cobben J , Dasouki MJ , Calame D , Wang G , Rackel B , Ellis J , He G , Mahoney DJ , Innes M , Epp J , Yang G

Published On :2025 Jun 23

Journal Article Preprint

Exploration of the Relationship between Macrophage-Related Proteins and the Risk and Prognosis of Breast Cancer.

Authors :Ma HF , He QN , Lu Y , Shen J

Published On :2025 Jul 1

Journal Article

Improved Allele Frequencies in gnomAD through Local Ancestry Inference.

Authors :Kore P , Wilson MW , Tiao G , Chao K , Darnowsky PW , Watts N , Mauer JH , Baxter SM , Genome Aggregation Database Consortium , Rehm HL , Daly MJ , Karczewski KJ , Atkinson EG

Published On :2025 Jun 9

Journal Article Preprint

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.

Authors :Welland MJ , Ahlquist KD , De Fazio P , Austin-Tse C , Pais L , Wedd L , Bryen S , Rius R , Franklin M , Morrison C , Hall G , Gauthier L , Bloemendal A , Francis DI , Mallett AJ , Mallawaarachchi A , Lockhart PJ , Leventer R , Scheffer IE , Howell KB , Kassahn KS , Scott HS , McGaughran J , Christodoulou J , Thorburn DR , Thompson BA , Patel CV , Smith G , O'Donnell-Luria A , Sadedin S , Rehm HL , Lunke S , Wander J , Samocha KE , Simons C , MacArthur DG , Stark Z

Published On :2025 May 21

Journal Article Preprint

Mpox in the Gulf Cooperation Council Countries: Addressing a new challenge to regional health security.

Authors :Al Awaidy S , Al-Tawfiq JA , Khamis F , Al Maslamani M , Al Salman J , Malik SMMR

Published On :2025

Editorial

Gene-based calibration of high-throughput functional assays for clinical variant classification.

Authors :Zeiberg D , Tejura M , McEwen AE , Fayer S , Pejaver V , Rubin AF , Starita LM , Fowler DM , O'Donnell-Luria A , Radivojac P

Published On :2025 May 4

Journal Article Preprint

The Spectrum of Genetic Mutations Among Patients with Hereditary Breast and Ovarian Cancer.

Authors :Hajeri AA , Awadhi AA , Kumar N , Jassim G

Published On :2025 Jun 26

Journal Article

Advancing the Landscape of Clinical Actionability in Von Hippel-Lindau Syndrome: An Evidence-Based Framework from the INT(2)GRATE Oncology Consortium.

Authors :Koeller DR , Walker M , Unal B , Chittenden A , Levine AS , Hayes CP , Oramasionwu PC , Manam MD , Buehler RM , Gomy I , Silva WA Jr , Lerner-Ellis J , Casalino S , Mahajan R , Watkins N , Agaoglu NB , Manning DK , Barletta JA , Hornick JL , Lindeman NI , Sholl LM , Rana HQ , Garber JE , Ghazani AA

Published On :2025 Jun 27

Journal Article

Artificial Intelligence to Advance Precision Oral Health.

Authors :Giannobile WV

Published On :2025 Jul 11

Journal Article

Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery.

Authors :Watkins WS , Hernandez EJ , Miller TA , Blue NR , Zimmerman RM , Griffiths ER , Frise E , Bernstein D , Boskovski MT , Brueckner M , Chung WK , Gaynor JW , Gelb BD , Goldmuntz E , Gruber PJ , Newburger JW , Roberts AE , Morton SU , Mayer JE Jr , Seidman CE , Seidman JG , Shen Y , Wagner M , Yost HJ , Yandell M , Tristani-Firouzi M

Published On :2025 Jul 10

Journal Article Observational Study

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions.

Authors :Gear R , Kalitsis P , Glass M , Isidor B , Vincent-Delorme C , Petit F , Verhagen JMA , Jorge A , Krepischi ACV , Osei-Owusu I , Martinez E , O'Donnell-Luria A , de Leeuw N , Ruggiero S , Helbig I , David F 1st , Brown NJ

Published On :2025 Nov

Journal Article

Patients With Mild ADPKD by Kidney Imaging but Low Estimated GFR.

Authors :Lee SH , Cam MM , Dehkharghanian T , Nasri F , Khowaja S , Haghighi A , Song X , Khalili K , Pei Y

Published On :2025 Jun

Journal Article

Juanbi Qianggu Formula inhibits fibroblast-like synovicytes activation via repressing LncRNA ITSN1-2 to promote RIP2 K48 ubiquitination.

Authors :Bian Y , Li F , A X , Xiang Z , Ma N , Wang J , Cao B , Xin P , Cheng X , Liu C , Xiang B , Shen J , Lu Q , Xiao L

Published On :2025 Jul 8

Journal Article