Publications | International Center for Genetic Disease at Harvard Medical School

Ending tuberculosis in Gulf Cooperation Council countries: an overview of the WHO End TB Strategy 2025 milestones.

Authors :Al Awaidy S , Khamis F , Al Mujeini S , Al Salman J , Al-Tawfiq JA

Published On :2025 Sep

Journal Article Review

Inhibition of neuronal necroptosis via disruption of RIPK1-RIPK3 Interactions: The role of neural stem cell-derived exosomes in spinal cord injury recovery.

Authors :Li S , Chen G , Tong K , Che Y , Xie Y , Shi W , Huang A , Wang Y , Li J , Jiao G , He D , Shen J , Wei F , Chen N

Published On :2025 Sep

Journal Article

Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs.

Authors :Bizzotto S , Talukdar M , Stronge EA , Ramirez RB , Yang Y , Huang AY , Hu Q , Hou Y , Hylton NK , Finander B , Tillett A , Zhou Z , Chhouk BH , D'Gama AM , Yang E , Green TE , Reutens DC , Mullen SA , Scheffer IE , Hildebrand MS , Buono RJ , Blümcke I , Poduri AH , Khoshkhoo S , Walsh CA

Published On :2025 Jul 22

Journal Article

Expectations for papers performing Mendelian randomization analyses.

Authors :Williams SM , Tang H , Cooper GM , O'Donnell-Luria A , Girirajan S , Dudley AM , Goriely A , Kutalik Z , Zhu X , Sirugo G , Epstein MP

Published On :2025 Jul

Editorial

Lower diffusion-derived vessel density (DDVD) measure of liver focal nodular hyperplasia than those of hepatocellular carcinoma and liver metastasis allows potential differential diagnosis: quantitative and semi-quantitative analyses of two-center data.

Authors :Zheng CJ , Yao DQ , Li CY , Duan XH , Zhang G , Yan ZH , Shi GZ , Li XM , Shen J , Wáng YXJ

Published On :2025 Jun 30

Journal Article

Genetic association of preeclampsia to von Willebrand factor and its size-regulator ADAMTS13.

Authors :Lokki AI , Triebwasser M , Daly E , Kurki MI , Perola M , Auro K , Java A , Salmon JE , Heinonen S , Kajantie E , Kere J , Lassila R , Daly M , Atkinson JP , Laivuori H , Meri S

Published On :2025 Jul 8

Journal Article

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

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

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

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

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

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