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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


Complete mitochondrial genomes of living and extinct pigeons revise the timing of the columbiform radiation.

Authors :Soares AE , Novak BJ , Haile J , Heupink TH , Fjeldså J , Gilbert MT , Poinar H , Church GM , Shapiro B
Published On :2016 Oct 26
Comparative Study Journal Article


Crosstalk between the gut and the liver via susceptibility loci: Novel advances in inflammatory bowel disease and autoimmune liver disease.

Authors :Li X , Shen J , Ran Z
Published On :2017 Feb
Journal Article Review Research Support, Non-U.S. Gov't


High-Efficiency Transduction of Primary Human Hematopoietic Stem/Progenitor Cells by AAV6 Vectors: Strategies for Overcoming Donor-Variation and Implications in Genome Editing.

Authors :Ling C , Bhukhai K , Yin Z , Tan M , Yoder MC , Leboulch P , Payen E , Srivastava A
Published On :2016 Oct 19
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Authors :Ordulu Z , Kammin T , Brand H , Pillalamarri V , Redin CE , Collins RL , Blumenthal I , Hanscom C , Pereira S , Bradley I , Crandall BF , Gerrol P , Hayden MA , Hussain N , Kanengisser-Pines B , Kantarci S , Levy B , Macera MJ , Quintero-Rivera F , Spiegel E , Stevens B , Ulm JE , Warburton D , Wilkins-Haug LE , Yachelevich N , Gusella JF , Talkowski ME , Morton CC
Published On :2016 Nov 3
Journal Article


The whole genome sequences and experimentally phased haplotypes of over 100 personal genomes.

Authors :Mao Q , Ciotlos S , Zhang RY , Ball MP , Chin R , Carnevali P , Barua N , Nguyen S , Agarwal MR , Clegg T , Connelly A , Vandewege W , Zaranek AW , Estep PW , Church GM , Drmanac R , Peters BA
Published On :2016 Oct 11
Journal Article