Publications | International Center for Genetic Disease at Harvard Medical School

A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project.

Authors :Seaby EG , Leggatt G , Cheng G , Thomas NS , Ashton JJ , Stafford I , Genomics England Consortium , Baralle D , Rehm HL , O'Donnell-Luria A , Ennis S

Published On :2023 Mar 30

Preprint Journal Article

Advancing Understanding of Inequities in Rare Disease Genomics.

Authors :Serrano JG , O'Leary M , VanNoy G , Holm IA , Fraiman YS , Rehm HL , O'Donnell-Luria A , Wojcik MH

Published On :2023 Mar 29

Preprint Journal Article

Synthesis of amylose and cellulose derivatives bearing bulky pendants for high-efficient chiral fluorescent sensing.

Authors :Wang F , Wang W , Wang Y , Zheng W , Zheng T , Zhang L , Okamoto Y , Shen J

Published On :2023 Jul 1

Journal Article

The Genetic Determinants of Aortic Distention.

Authors :Pirruccello JP , Rämö JT , Choi SH , Chaffin MD , Kany S , Nekoui M , Chou EL , Jurgens SJ , Friedman SF , Juric D , Stone JR , Batra P , Ng K , Philippakis AA , Lindsay ME , Ellinor PT

Published On :2023 Apr 11

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

National Human Genome Research Institute Genomic Data Science Analysis, Visualization, and Informatics Lab-Space: Reaching out to Clinicians.

Authors :Hall JL , Honeycutt S , Gonzalez N , O'Donnell-Luria A , Overby Taylor C , Stevens L , Philippakis AA , Schatz MC

Published On :2023 Jun

Journal Article Research Support, N.I.H., Extramural

A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.

Authors :Mo A , Paz-Ebstein E , Yanovsky-Dagan S , Lai A , Mor-Shaked H , Gilboa T , Yang E , Shao DD , Walsh CA , Harel T

Published On :2023 Jul

Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Transcriptomic reprogramming for neuronal age reversal.

Authors :Plesa AM , Shadpour M , Boyden E , Church GM

Published On :2023 Aug

Journal Article

Inferring compound heterozygosity from large-scale exome sequencing data.

Authors :Guo MH , Francioli LC , Stenton SL , Goodrich JK , Watts NA , Singer-Berk M , Groopman E , Darnowsky PW , Solomonson M , Baxter S , gnomAD Project Consortium , Tiao G , Neale BM , Hirschhorn JN , Rehm HL , Daly MJ , O'Donnell-Luria A , Karczewski KJ , MacArthur DG , Samocha KE

Published On :2023 Aug 21

Preprint Journal Article

Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution.

Authors :Kang JB , Shen AZ , Sakaue S , Luo Y , Gurajala S , Nathan A , Rumker L , Aguiar VRC , Valencia C , Lagattuta K , Zhang F , Jonsson AH , Yazar S , Alquicira-Hernandez J , Khalili H , Ananthakrishnan AN , Jagadeesh K , Dey K , Accelerating Medicines Partnership Program: Rheumatoid Arthritis and Systemic Lupus Erythematosus (AMP RA/SLE) Network , Daly MJ , Xavier RJ , Donlin LT , Anolik JH , Powell JE , Rao DA , Brenner MB , Gutierrez-Arcelus M , Raychaudhuri S

Published On :2023 Mar 20

Preprint Journal Article

A Facile Method to Fabricate Al(2)O(3)-SiO(2) Aerogels with Low Shrinkage up to 1200 °C.

Authors :Tian Y , Wang X , Wu Y , Zhang X , Li C , Wang Y , Shen J

Published On :2023 Mar 17

Journal Article

When I say … lived curriculum.

Authors :Khachadoorian-Elia HR , Bush LW , Rider EA , Klig JE , Qayyum Z , Begin AS , Fogler JM

Published On :2023 Jul

Journal Article

Recurrent mutation in the ancestry of a rare variant.

Authors :Wakeley J , Fan WL , Koch E , Sunyaev S

Published On :2023 Jul 6

Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.

Centenarian clocks: epigenetic clocks for validating claims of exceptional longevity.

Authors :Dec E , Clement J , Cheng K , Church GM , Fossel MB , Rehkopf DH , Rosero-Bixby L , Kobor MS , Lin DT , Lu AT , Fei Z , Guo W , Chew YC , Yang X , Putra SED , Reiner AP , Correa A , Vilalta A , Pirazzini C , Passarino G , Monti D , Arosio B , Garagnani P , Franceschi C , Horvath S

Published On :2023 Jun

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Why 2 dental degrees?: Time for unification of degrees and oral health care providers.

Authors :Giddon DB , Giannobile WV

Published On :2023 Aug

Editorial Comment

A systematic review of adeno-associated virus gene therapy clinical trials for HIV - A potential solution for patients with haemophilia and HIV?

Authors :Levy-Mendelovich S , Walsh CE , Schapiro JM , Soffer S , Klang E , Kenet G

Published On :2023 May

Systematic Review Journal Article