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Myocardial injury in fetal aortic stenosis: Insights from amniotic fluid analysis.

Authors :Friedman KG , Sleeper LA , Fichorova RN , Weilnau T , Tworetzky W , Wilkins-Haug LE
Published On :2018 Feb
Journal Article


Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.

Authors :Hui KY , Fernandez-Hernandez H , Hu J , Schaffner A , Pankratz N , Hsu NY , Chuang LS , Carmi S , Villaverde N , Li X , Rivas M , Levine AP , Bao X , Labrias PR , Haritunians T , Ruane D , Gettler K , Chen E , Li D , Schiff ER , Pontikos N , Barzilai N , Brant SR , Bressman S , Cheifetz AS , Clark LN , Daly MJ , Desnick RJ , Duerr RH , Katz S , Lencz T , Myers RH , Ostrer H , Ozelius L , Payami H , Peter Y , Rioux JD , Segal AW , Scott WK , Silverberg MS , Vance JM , Ubarretxena-Belandia I , Foroud T , Atzmon G , Pe'er I , Ioannou Y , McGovern DPB , Yue Z , Schadt EE , Cho JH , Peter I
Published On :2018 Jan 10
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.


From Designing the Molecules of Life to Designing Life: Future Applications Derived from Advances in DNA Technologies.

Authors :Kohman RE , Kunjapur AM , Hysolli E , Wang Y , Church GM
Published On :2018 Apr 9
Journal Article Review


Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion.

Authors :de Kock L , Geoffrion D , Rivera B , Wagener R , Sabbaghian N , Bens S , Ellezam B , Bouron-Dal Soglio D , Ordóñez J , Sacharow S , Polo Nieto JF , Guillerman RP , Vujanic GM , Priest JR , Siebert R , Foulkes WD
Published On :2018 May
Case Reports Journal Article Research Support, Non-U.S. Gov't


Transparent, Superflexible Doubly Cross-Linked Polyvinylpolymethylsiloxane Aerogel Superinsulators via Ambient Pressure Drying.

Authors :Zu G , Shimizu T , Kanamori K , Zhu Y , Maeno A , Kaji H , Shen J , Nakanishi K
Published On :2018 Jan 23
Journal Article Research Support, Non-U.S. Gov't


Discovery of a unique Mycobacterium tuberculosis protein through proteomic analysis of urine from patients with active tuberculosis.

Authors :Pollock N , Dhiman R , Daifalla N , Farhat M , Campos-Neto A
Published On :2018 Apr
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316-2322.

Authors :Johnson MB , De Franco E , Lango Allen H , Al Senani A , Elbarbary N , Siklar Z , Berberoglu M , Imane Z , Haghighi A , Razavi Z , Ullah I , Alyaarubi S , Gardner D , Ellard S , Hattersley AT , Flanagan SE
Published On :2018 Mar
Journal Article Published Erratum


Engineering posttranslational proofreading to discriminate nonstandard amino acids.

Authors :Kunjapur AM , Stork DA , Kuru E , Vargas-Rodriguez O , Landon M , Söll D , Church GM
Published On :2018 Jan 16
Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.


Principles and methods of in-silico prioritization of non-coding regulatory variants.

Authors :Lee PH , Lee C , Li X , Wee B , Dwivedi T , Daly M
Published On :2018 Jan
Journal Article Review


Converging High-Level Coupled-Cluster Energetics by Monte Carlo Sampling and Moment Expansions.

Authors :Deustua JE , Shen J , Piecuch P
Published On :2017 Dec 1
Journal Article


Application of the CC(P;Q) Hierarchy of Coupled-Cluster Methods to the Beryllium Dimer.

Authors :Magoulas I , Bauman NP , Shen J , Piecuch P
Published On :2018 Feb 8
Journal Article


MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

Authors :El-Hattab AW , Wang J , Dai H , Almannai M , Staufner C , Alfadhel M , Gambello MJ , Prasun P , Raza S , Lyons HJ , Afqi M , Saleh MAM , Faqeih EA , Alzaidan HI , Alshenqiti A , Flore LA , Hertecant J , Sacharow S , Barbouth DS , Murayama K , Shah AA , Lin HC , Wong LC
Published On :2018 Apr
Journal Article Research Support, Non-U.S. Gov't


Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

Authors :D'Gama AM , Woodworth MB , Hossain AA , Bizzotto S , Hatem NE , LaCoursiere CM , Najm I , Ying Z , Yang E , Barkovich AJ , Kwiatkowski DJ , Vinters HV , Madsen JR , Mathern GW , Blümcke I , Poduri A , Walsh CA
Published On :2017 Dec 26
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.

Authors :Sacharow SJ , Dudenhausen EE , Lomelino CL , Rodan L , El Achkar CM , Olson HE , Genetti CA , Agrawal PB , McKenna R , Kilberg MS
Published On :2018 Mar
Case Reports Journal Article Research Support, N.I.H., Extramural


Eight Kinetically Stable but Thermodynamically Activated Molecules that Power Cell Metabolism.

Authors :Walsh CT , Tu BP , Tang Y
Published On :2018 Feb 28
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review