Publications | International Center for Genetic Disease at Harvard Medical School

Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype.

Authors :Demirbas D , Waisbren SE , Bodamer O , Hung CY , Rajabi F , Berry G , Levy HL

Published On :2026 Mar

Journal Article

Synthetic circuits for cell ratio control.

Authors :An B , Tang TC , Zhang Q , Wang T , Wang Y , Gan K , Liu K , Zhang DL , Liu Y , Pan YK , Yu M , Shaw WM , Liang Q , Wang Y , Vaiana CA , Lou C , Voigt CA , Lu TK , Church GM , Zhong C

Published On :2026 Mar 18

Journal Article

Manufacturing-aware generative models enable petascale synthesis of designed DNA.

Authors :Weinstein EN , Gollub MG , Slabodkin A , Dobbs K , Cui XB , Gardner CL , Grant RJ , Gurung K , Bailey A , Amin AN , Church GM , Wood EB

Published On :2026 Mar 17

Journal Article

Oxidative stress and bone marrow adipocytes: Molecular mechanisms and possible implications.

Authors :Tao H , Ge G , Chen K , Chen T , Li W , Yang P , Che Y , Wang Y , Chen W , Yu H , Yang X , Shen J , Geng D

Published On :2026 Jan

Journal Article Review

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Authors :Brünger T , Krey I , Kim S , Klöckner C , Myers SJ , Johannesen KM , Stefanski A , Taylor G , Perez-Palma E , Macnee M , Schorge S , Dahl RS , Yuan H , Perszyk RE , Kim S , Bajaj S , Helbig I , Pan JQ , Farrant M , Wollmuth L , Wyllie DJA , Kurganov E , Baez D , Zuberi S , Boßelmann CM , Lerche H , Mantegazza M , Cestèle S , May P , Ivaniuk A , Meskis MA , Hood V , Schust L , Goodspeed K , Kang JQ , Freed A , Gati C , Montanucci L , Wuster A , Trinidad M , Froelich S , Deng AT , Serrano ÁA , Borovikov A , Sharkov A , Bouman A , Hajianpour MJ , Pal DK , Danvoye L , Lederer D , Balci TR , Hagebeuk EEO , Heidlebaugh A , Oetjens K , Hoffman TL , Striano P , Williams SD , van Engelen K , Howell KB , Khoury J , Benke TA , Strehlow V , Platzer K , Ramsey A , Manaster L , Malepati S , Fox P , Noebels J , Chung W , Poduri A , Stripe LL , Ruggiero SM , Cohen S , Smith L , Boesch S , Wilmarth O , Prentice AJ , Cha E , Budnik N , Hommersom MP , Kramer A , Vanoye CG , Zhang GQ , Nothnagel M , Palotie A , Daly MJ , George AL Jr , Zarate YA , Brunklaus A , Traynelis SF , Møller RS , Lemke JR , Lal D

Published On :2026 Mar 6

Journal Article Preprint

Ultra-rare biallelic THAP12 variants cause loss of function and underlie severe epileptic encephalopathy.

Authors :Ochenkowska K , Rampal B , Légaré A , Triassi V , Audet S , Brisson A , Bernas G , Liao M , da Silva Babinet A , Pilliod J , Gillaspie M , VanNoy GE , Pais L , O'Donnell-Luria A , Leclerc N , Walleigh D , Schmouth JF , Cappadocia L , Desrosiers P , De Koninck P , Tétreault M , Samarut É

Published On :2026 Mar 3

Journal Article Preprint

Structure and Magnetocaloric Properties of Two Cadmium Gadolinium Borates.

Authors :Wan T , Wang Y , Chen Z , Li Z , Zhao Y , Shen J , Tu H , Zhang G

Published On :2026 Mar 12

Journal Article

Dental, Oral and Craniofacial Tissue Regeneration Consortium (DOCTRC): An infrastructure for accelerating regenerative therapies from discovery to clinical impact.

Authors :Nguyen VX , Yoshida M , Samuels BD , Giannobile W , Healy KE , Jamieson M , Lane N , Longaker MT , Mooney DJ , Sfeir CS , Sinha UK , Wagner WR , Lotz JC , Kohn DH , Chai Y

Published On :2026

Case Reports Journal Article

Separation of liver focal nodular hyperplasia (FNH) and liver malignant tumors by a combination of T2-weighted imaging signal and three diffusion magnetic resonance metrics of diffusion-derived vessel density, slow diffusion coefficient, and apparent diffusion coefficient.

Authors :Li CY , Zheng CJ , Duan XH , Shen J , Wáng YXJ

Published On :2026 Feb 28

Journal Article

Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations.

Authors :Mendez R , Arriaga TM , Ma J , Bonner DE , Emami S , Levy RJ , Alsagheir A , Alhaddad B , Bakur K , Ungar RA , Matalon DR , Miller AM , Nguyen J , Smith KS , Scott SA , Liao L , Ng Z , Marwaha S , Ward A , Undiagnosed Diseases Network , Genomics Research to Elucidate the Genetics of Rare Diseases Consortium , Novacic D , Alkuraya FS , Bernstein JA , Ganesh VS , O'Donnell-Luria A , Montgomery SB , Wheeler MT

Published On :2026 Mar 9

Journal Article

Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.

Authors :Schwahn BC , Berry GT , Vernon HJ , Li H , Merritt Ii JL , Schiff M , Chabrol B , De Las Heras J , Vockley J , Lee C , Koeberl DD , Burton BK , Grunewald S , Diaz GA , Ficicioglu C , Morgan T , Luo J , Attarwala H , Liang M , Perera S , Sikirica V

Published On :2026 Mar 9

Journal Article

Neuregulin1-ErbB4 Signaling Involved in Acupuncture Promoting Myelin Regeneration in Spinal Cord Injury Rats.

Authors :Shen J , Zhao Y , Jiang C , Huang Y , Wang L , Wu H

Published On :2026 Feb 20

Journal Article Video-Audio Media

Phosphoproteomic Insights into the Metabolic Reprogramming of Cell Growth and Lipid Accumulation in Mucor circinelloides.

Authors :Zan X , Shen J , Wang Y , Zhao L , Sun L , Sun W , Song Y , Cui F

Published On :2026 Mar 18

Journal Article

Prothrombin G20210A and Factor V Leiden Variants Are Not Associated With Thrombotic Events in Congenital Heart Disease: An Observational Trial.

Authors :Ladha FA , VanderPluym C , Mondragon-Estrada E , Avillach P , Brueckner M , Chung WK , Cnota JF , Gelb BD , Lewis M , Liu C , Roberts AE , Seidman CE , Tristani-Firouzi M , Wagner M , Morton SU , Newburger JW , Pediatric Cardiac Genomics Consortium Investigators

Published On :2026 Mar 17

Journal Article Observational Study Multicenter Study

Charge/stiffness-tunable nano-microsphere overcomes intestinal mucosal barrier for rheumatoid arthritis treatment.

Authors :Zhu Y , Wang L , Zhang Y , Li G , Shi Z , Wang D , Wang Q , Yang X , Wang L , Shen J , Yang X

Published On :2026 Apr

Journal Article