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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.

Authors :Rodan LH , Cohen J , Fatemi A , Gillis T , Lucente D , Gusella J , Picker JD
Published On :2016 Dec
Journal Article Published Erratum


Application of Circumferential Compression Device (Binder) in Pelvic Injuries: Room for Improvement.

Authors :Vaidya R , Roth M , Zarling B , Zhang S , Walsh C , Macsuga J , Swartz J
Published On :2016 Nov
Journal Article


Evolution of Osteocrin as an activity-regulated factor in the primate brain.

Authors :Ataman B , Boulting GL , Harmin DA , Yang MG , Baker-Salisbury M , Yap EL , Malik AN , Mei K , Rubin AA , Spiegel I , Durresi E , Sharma N , Hu LS , Pletikos M , Griffith EC , Partlow JN , Stevens CR , Adli M , Chahrour M , Sestan N , Walsh CA , Berezovskii VK , Livingstone MS , Greenberg ME
Published On :2016 Nov 10
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


High-efficiency piezoelectric micro harvester for collecting low-frequency mechanical energy.

Authors :Li X , Song J , Feng S , Xie X , Li Z , Wang L , Pu Y , Soh AK , Shen J , Lu W , Liu S
Published On :2016 Dec 2
Journal Article


2D/3D perovskite hybrids as moisture-tolerant and efficient light absorbers for solar cells.

Authors :Ma C , Leng C , Ji Y , Wei X , Sun K , Tang L , Yang J , Luo W , Li C , Deng Y , Feng S , Shen J , Lu S , Du C , Shi H
Published On :2016 Nov 3
Journal Article


A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer.

Authors :Vijai J , Topka S , Villano D , Ravichandran V , Maxwell KN , Maria A , Thomas T , Gaddam P , Lincoln A , Kazzaz S , Wenz B , Carmi S , Schrader KA , Hart SN , Lipkin SM , Neuhausen SL , Walsh MF , Zhang L , Lejbkowicz F , Rennert H , Stadler ZK , Robson M , Weitzel JN , Domchek S , Daly MJ , Couch FJ , Nathanson KL , Norton L , Rennert G , Offit K
Published On :2016 Nov
Journal Article Research Support, U.S. Gov't, Non-P.H.S. Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Engineering and optimising deaminase fusions for genome editing.

Authors :Yang L , Briggs AW , Chew WL , Mali P , Guell M , Aach J , Goodman DB , Cox D , Kan Y , Lesha E , Soundararajan V , Zhang F , Church G
Published On :2016 Nov 2
Journal Article


Usefulness of spectral computed tomography for evaluation of intestinal activity and severity in ileocolonic Crohn's disease.

Authors :Peng JC , Feng Q , Zhu J , Shen J , Qiao YQ , Xu JR , Ran ZH
Published On :2016 Nov
Journal Article


Structural elements of an NRPS cyclization domain and its intermodule docking domain.

Authors :Dowling DP , Kung Y , Croft AK , Taghizadeh K , Kelly WL , Walsh CT , Drennan CL
Published On :2016 Nov 1
Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.


Design and characterization of a nanopore-coupled polymerase for single-molecule DNA sequencing by synthesis on an electrode array.

Authors :Stranges PB , Palla M , Kalachikov S , Nivala J , Dorwart M , Trans A , Kumar S , Porel M , Chien M , Tao C , Morozova I , Li Z , Shi S , Aberra A , Arnold C , Yang A , Aguirre A , Harada ET , Korenblum D , Pollard J , Bhat A , Gremyachinskiy D , Bibillo A , Chen R , Davis R , Russo JJ , Fuller CW , Roever S , Ju J , Church GM
Published On :2016 Nov 1
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level.

Authors :Wang H , Cade BE , Chen H , Gleason KJ , Saxena R , Feng T , Larkin EK , Vasan RS , Lin H , Patel SR , Tracy RP , Liu Y , Gottlieb DJ , Below JE , Hanis CL , Petty LE , Sunyaev SR , Frazier-Wood AC , Rotter JI , Post W , Lin X , Redline S , Zhu X
Published On :2016 Dec 1
Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.


Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.

Authors :Zou J , Valiant G , Valiant P , Karczewski K , Chan SO , Samocha K , Lek M , Sunyaev S , Daly M , MacArthur DG
Published On :2016 Oct 31
Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.


De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.

Authors :Rodan LH , El Achkar CM , Berry GT , Poduri A , Prabhu SP , Yang E , Anselm I
Published On :2017 Jan
Case Reports Journal Article


Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.

Authors :Ganna A , Genovese G , Howrigan DP , Byrnes A , Kurki M , Zekavat SM , Whelan CW , Kals M , Nivard MG , Bloemendal A , Bloom JM , Goldstein JI , Poterba T , Seed C , Handsaker RE , Natarajan P , Mägi R , Gage D , Robinson EB , Metspalu A , Salomaa V , Suvisaari J , Purcell SM , Sklar P , Kathiresan S , Daly MJ , McCarroll SA , Sullivan PF , Palotie A , Esko T , Hultman C , Neale BM
Published On :2016 Dec
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Recombinant human bone morphogenetic protein 2 outcomes for maxillary sinus floor augmentation: a systematic review and meta-analysis.

Authors :Lin GH , Lim G , Chan HL , Giannobile WV , Wang HL
Published On :2016 Nov
Journal Article Meta-Analysis Systematic Review