Publications | International Center for Genetic Disease at Harvard Medical School

Zwitterionic Manganese(III) Porphyrin as a Superoxide Dismutase Mimetic and MRI Contrast Agent.

Authors :Dong Y , Li D , Liu Y , Guo Y , Yang J , Li Z , Yang X , Shen J , Ning Y

Published On :2026 Apr 9

Journal Article

Structural variants in human congenital heart disease disrupt distal genomic regulatory contacts of developmental genes.

Authors :Lee J , Wu J , Pittman M , Grant ZL , Kuang S , Quiat D , Morton SU , Fudenberg G , Traglia M , Hayes KA , Pediatric Cardiac Genomics Consortium , Kumar R , Bruneau BG , Pollard KS

Published On :2026 Mar 2

Journal Article Preprint

Somatic mutation in human cerebellum illustrates neuron type-specific patterns of age-related mutation.

Authors :Essuman K , Yang Y , Goodman E , Cambridge CN , Cai C , An Z , Mao S , Manam MD , Finander B , Khoshkhoo S , Sun L , Huang AY , Walsh CA

Published On :2026 Mar 2

Journal Article Preprint

Pulmonary Hypertension in Pediatric Patients with Noonan Syndrome Undergoing Cardiac Catheterization.

Authors :Collins SL , Critser PJ , Gauvreau K , Porras D , Roberts AE , Mullen MP

Published On :2026 Mar 21

Journal Article

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 23

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

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and 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 Apr 9

Journal Article Case Reports

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