Publications | International Center for Genetic Disease at Harvard Medical School

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Authors :Metz KA , Teng X , Coppens I , Lamb HM , Wagner BE , Rosenfeld JA , Chen X , Zhang Y , Kim HJ , Meadow ME , Wang TS , Haberlandt ED , Anderson GW , Leshinsky-Silver E , Bi W , Markello TC , Pratt M , Makhseed N , Garnica A , Danylchuk NR , Burrow TA , Jayakar P , McKnight D , Agadi S , Gbedawo H , Stanley C , Alber M , Prehl I , Peariso K , Ong MT , Mordekar SR , Parker MJ , Crooks D , Agrawal PB , Berry GT , Loddenkemper T , Yang Y , Maegawa GHB , Aouacheria A , Markle JG , Wohlschlegel JA , Hartman AL , Hardwick JM

Published On :2018 Nov

Journal Article

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Authors :Olson HE , Jean-Marçais N , Yang E , Heron D , Tatton-Brown K , van der Zwaag PA , Bijlsma EK , Krock BL , Backer E , Kamsteeg EJ , Sinnema M , Reijnders MRF , Bearden D , Begtrup A , Telegrafi A , Lunsing RJ , Burglen L , Lesca G , Cho MT , Smith LA , Sheidley BR , El Achkar CM , Pearl PL , Poduri A , Skraban CM , Tarpinian J , Nesbitt AI , Fransen van de Putte DE , Ruivenkamp CAL , Rump P , Chatron N , Sabatier I , De Bellescize J , Guibaud L , Sweetser DA , Waxler JL , Wierenga KJ , DDD Study , Donadieu J , Narayanan V , Ramsey KM , C4RCD Research Group , Nava C , Rivière JB , Vitobello A , Mau-Them FT , Philippe C , Bruel AL , Duffourd Y , Thomas L , Lelieveld SH , Schuurs-Hoeijmakers J , Brunner HG , Keren B , Thevenon J , Faivre L , Thomas G , Thauvin-Robinet C

Published On :2018 Oct 4

Journal Article Published Erratum

Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing.

Authors :CRyPTIC Consortium and the 100,000 Genomes Project , Allix-Béguec C , Arandjelovic I , Bi L , Beckert P , Bonnet M , Bradley P , Cabibbe AM , Cancino-Muñoz I , Caulfield MJ , Chaiprasert A , Cirillo DM , Clifton DA , Comas I , Crook DW , De Filippo MR , de Neeling H , Diel R , Drobniewski FA , Faksri K , Farhat MR , Fleming J , Fowler P , Fowler TA , Gao Q , Gardy J , Gascoyne-Binzi D , Gibertoni-Cruz AL , Gil-Brusola A , Golubchik T , Gonzalo X , Grandjean L , He G , Guthrie JL , Hoosdally S , Hunt M , Iqbal Z , Ismail N , Johnston J , Khanzada FM , Khor CC , Kohl TA , Kong C , Lipworth S , Liu Q , Maphalala G , Martinez E , Mathys V , Merker M , Miotto P , Mistry N , Moore DAJ , Murray M , Niemann S , Omar SV , Ong RT , Peto TEA , Posey JE , Prammananan T , Pym A , Rodrigues C , Rodrigues M , Rodwell T , Rossolini GM , Sánchez Padilla E , Schito M , Shen X , Shendure J , Sintchenko V , Sloutsky A , Smith EG , Snyder M , Soetaert K , Starks AM , Supply P , Suriyapol P , Tahseen S , Tang P , Teo YY , Thuong TNT , Thwaites G , Tortoli E , van Soolingen D , Walker AS , Walker TM , Wilcox M , Wilson DJ , Wyllie D , Yang Y , Zhang H , Zhao Y , Zhu B

Published On :2018 Oct 11

Journal Article Multicenter Study

Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

Authors :Alver M , Palover M , Saar A , Läll K , Zekavat SM , Tõnisson N , Leitsalu L , Reigo A , Nikopensius T , Ainla T , Kals M , Mägi R , Gabriel SB , Eha J , Lander ES , Irs A , Philippakis A , Marandi T , Natarajan P , Metspalu A , Kathiresan S , Esko T

Published On :2019 May

Journal Article

Identity and novelty in the avian syrinx.

Authors :Kingsley EP , Eliason CM , Riede T , Li Z , Hiscock TW , Farnsworth M , Thomson SL , Goller F , Tabin CJ , Clarke JA

Published On :2018 Oct 9

Journal Article Review

Somatic Mutation in Pediatric Neurological Diseases.

Authors :Rodin RE , Walsh CA

Published On :2018 Oct

Journal Article Review

Global Unmet Needs in Cardiac Surgery.

Authors :Zilla P , Yacoub M , Zühlke L , Beyersdorf F , Sliwa K , Khubulava G , Bouzid A , Mocumbi AO , Velayoudam D , Shetty D , Ofoegbu C , Geldenhuys A , Brink J , Scherman J , du Toit H , Hosseini S , Zhang H , Luo XJ , Wang W , Mejia J , Kofidis T , Higgins RSD , Pomar J , Bolman RM , Mayosi BM , Madansein R , Bavaria J , Yanes-Quintana AA , Kumar AS , Adeoye O , Chauke RF , Williams DF

Published On :2018 Dec

Journal Article Review

The critical needs and challenges for genetic architecture studies in Africa.

Authors :Martin AR , Teferra S , Möller M , Hoal EG , Daly MJ

Published On :2018 Dec

Journal Article Review

matchbox: An open-source tool for patient matching via the Matchmaker Exchange.

Authors :Arachchi H , Wojcik MH , Weisburd B , Jacobsen JOB , Valkanas E , Baxter S , Byrne AB , O'Donnell-Luria AH , Haendel M , Smedley D , MacArthur DG , Philippakis AA , Rehm HL

Published On :2018 Dec

Journal Article

A Three Long Noncoding RNA-Based Signature for Oral Squamous Cell Carcinoma Prognosis Prediction.

Authors :Zhao C , Zou H , Wang J , Shen J , Liu H

Published On :2018 Nov

Journal Article

Endogenous Endophthalmitis Caused by Carbapenem-Resistant Hypervirulent Klebsiella Pneumoniae: A Case Report and Literature Review.

Authors :Zhou Y , Wang X , Shen J , Lu Z , Liu Y

Published On :2019

Journal Article Review

Propofol: Milk of Amnesia.

Authors :Walsh CT

Published On :2018 Sep 20

Biography Historical Article News

Ultrasound in the management of iatrogenic spinal accessory nerve palsy at the posterior cervical triangle area.

Authors :Shen J , Chen W , Ye X , Qiu Y , Xu J , Zhu Y , Shen Y , Xu W

Published On :2019 Jan

Journal Article

Genomic and phenotypic delineation of congenital microcephaly.

Authors :Shaheen R , Maddirevula S , Ewida N , Alsahli S , Abdel-Salam GMH , Zaki MS , Tala SA , Alhashem A , Softah A , Al-Owain M , Alazami AM , Abadel B , Patel N , Al-Sheddi T , Alomar R , Alobeid E , Ibrahim N , Hashem M , Abdulwahab F , Hamad M , Tabarki B , Alwadei AH , Alhazzani F , Bashiri FA , Kentab A , Şahintürk S , Sherr E , Fregeau B , Sogati S , Alshahwan SAM , Alkhalifi S , Alhumaidi Z , Temtamy S , Aglan M , Otaify G , Girisha KM , Tulbah M , Seidahmed MZ , Salih MA , Abouelhoda M , Momin AA , Saffar MA , Partlow JN , Arold ST , Faqeih E , Walsh C , Alkuraya FS

Published On :2019 Mar

Journal Article

ZIF-derived carbons as highly efficient and stable ORR catalyst.

Authors :Lv L , Kang S , Li X , Shen J , Liu S

Published On :2018 Nov 30

Journal Article