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Surgeon Involvement in Transcatheter Aortic Valve Replacement in the United States: A 2016 Society of Thoracic Surgeons Survey.

Authors :Bavaria JE , Prager RL , Naunheim KS , Allen MS , Higgins RSD , Thourani VH , MacGillivray TE , Boden N , Sabik JF 3rd , STS Executive Committee
Published On :2017 Sep
Journal Article Multicenter Study


Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma.

Authors :O'Donnell-Luria AH , Lin AP , Merugumala SK , Rohr F , Waisbren SE , Lynch R , Tchekmedyian V , Goldberg AD , Bellinger A , McFaline-Figueroa JR , Simon T , Gershanik EF , Levy BD , Cohen DE , Samuels MA , Berry GT , Frank NY
Published On :2017 May
Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.


Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Authors :Saleheen D , Natarajan P , Armean IM , Zhao W , Rasheed A , Khetarpal SA , Won HH , Karczewski KJ , O'Donnell-Luria AH , Samocha KE , Weisburd B , Gupta N , Zaidi M , Samuel M , Imran A , Abbas S , Majeed F , Ishaq M , Akhtar S , Trindade K , Mucksavage M , Qamar N , Zaman KS , Yaqoob Z , Saghir T , Rizvi SNH , Memon A , Hayyat Mallick N , Ishaq M , Rasheed SZ , Memon FU , Mahmood K , Ahmed N , Do R , Krauss RM , MacArthur DG , Gabriel S , Lander ES , Daly MJ , Frossard P , Danesh J , Rader DJ , Kathiresan S
Published On :2017 Apr 12
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.


The State of Skewed X Chromosome Inactivation is Retained in the Induced Pluripotent Stem Cells from a Female with Hemophilia B.

Authors :Lyu C , Shen J , Zhang J , Xue F , Liu X , Liu W , Fu R , Zhang L , Li H , Zhang D , Zhang X , Cheng T , Yang R , Zhang L
Published On :2017 Jul 1
Journal Article Research Support, Non-U.S. Gov't



Lessons from the CAGI-4 Hopkins clinical panel challenge.

Authors :Chandonia JM , Adhikari A , Carraro M , Chhibber A , Cutting GR , Fu Y , Gasparini A , Jones DT , Kramer A , Kundu K , Lam HYK , Leonardi E , Moult J , Pal LR , Searls DB , Shah S , Sunyaev S , Tosatto SCE , Yin Y , Buckley BA
Published On :2017 Sep
Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.


De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Authors :Küry S , Besnard T , Ebstein F , Khan TN , Gambin T , Douglas J , Bacino CA , Craigen WJ , Sanders SJ , Lehmann A , Latypova X , Khan K , Pacault M , Sacharow S , Glaser K , Bieth E , Perrin-Sabourin L , Jacquemont ML , Cho MT , Roeder E , Denommé-Pichon AS , Monaghan KG , Yuan B , Xia F , Simon S , Bonneau D , Parent P , Gilbert-Dussardier B , Odent S , Toutain A , Pasquier L , Barbouth D , Shaw CA , Patel A , Smith JL , Bi W , Schmitt S , Deb W , Nizon M , Mercier S , Vincent M , Rooryck C , Malan V , Briceño I , Gómez A , Nugent KM , Gibson JB , Cogné B , Lupski JR , Stessman HA , Eichler EE , Retterer K , Yang Y , Redon R , Katsanis N , Rosenfeld JA , Kloetzel PM , Golzio C , Bézieau S , Stankiewicz P , Isidor B
Published On :2017 Apr 6
Journal Article Published Erratum


An unbiased index to quantify participant's phenotypic contribution to an open-access cohort.

Authors :Chan Y , Tung M , Garruss AS , Zaranek SW , Chan YK , Lunshof JE , Zaranek AW , Ball MP , Chou MF , Lim ET , Church GM
Published On :2017 Apr 7
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Retrospective correction of frequency drift in spectral editing: The GABA editing example.

Authors :van der Veen JW , Marenco S , Berman KF , Shen J
Published On :2017 Aug
Journal Article


Estimating the selective effects of heterozygous protein-truncating variants from human exome data.

Authors :Cassa CA , Weghorn D , Balick DJ , Jordan DM , Nusinow D , Samocha KE , O'Donnell-Luria A , MacArthur DG , Daly MJ , Beier DR , Sunyaev SR
Published On :2017 May
Journal Article


Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.

Authors :Martin AR , Gignoux CR , Walters RK , Wojcik GL , Neale BM , Gravel S , Daly MJ , Bustamante CD , Kenny EE
Published On :2017 Apr 6
Journal Article


Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome.

Authors :Ebrahimi-Fakhari D , Freiman E , Wojcik MH , Krone K , Casey A , Winn AS , Roberts AE , Harper BD
Published On :2017 Jun
Case Reports Journal Article


Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders.

Authors :Aldubayan SH , Rodan LH , Berry GT , Levy HL
Published On :2017 Apr
Journal Article


A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.

Authors :Manning A , Highland HM , Gasser J , Sim X , Tukiainen T , Fontanillas P , Grarup N , Rivas MA , Mahajan A , Locke AE , Cingolani P , Pers TH , Viñuela A , Brown AA , Wu Y , Flannick J , Fuchsberger C , Gamazon ER , Gaulton KJ , Im HK , Teslovich TM , Blackwell TW , Bork-Jensen J , Burtt NP , Chen Y , Green T , Hartl C , Kang HM , Kumar A , Ladenvall C , Ma C , Moutsianas L , Pearson RD , Perry JRB , Rayner NW , Robertson NR , Scott LJ , van de Bunt M , Eriksson JG , Jula A , Koskinen S , Lehtimäki T , Palotie A , Raitakari OT , Jacobs SBR , Wessel J , Chu AY , Scott RA , Goodarzi MO , Blancher C , Buck G , Buck D , Chines PS , Gabriel S , Gjesing AP , Groves CJ , Hollensted M , Huyghe JR , Jackson AU , Jun G , Justesen JM , Mangino M , Murphy J , Neville M , Onofrio R , Small KS , Stringham HM , Trakalo J , Banks E , Carey J , Carneiro MO , DePristo M , Farjoun Y , Fennell T , Goldstein JI , Grant G , Hrabé de Angelis M , Maguire J , Neale BM , Poplin R , Purcell S , Schwarzmayr T , Shakir K , Smith JD , Strom TM , Wieland T , Lindstrom J , Brandslund I , Christensen C , Surdulescu GL , Lakka TA , Doney ASF , Nilsson P , Wareham NJ , Langenberg C , Varga TV , Franks PW , Rolandsson O , Rosengren AH , Farook VS , Thameem F , Puppala S , Kumar S , Lehman DM , Jenkinson CP , Curran JE , Hale DE , Fowler SP , Arya R , DeFronzo RA , Abboud HE , Syvänen AC , Hicks PJ , Palmer ND , Ng MCY , Bowden DW , Freedman BI , Esko T , Mägi R , Milani L , Mihailov E , Metspalu A , Narisu N , Kinnunen L , Bonnycastle LL , Swift A , Pasko D , Wood AR , Fadista J , Pollin TI , Barzilai N , Atzmon G , Glaser B , Thorand B , Strauch K , Peters A , Roden M , Müller-Nurasyid M , Liang L , Kriebel J , Illig T , Grallert H , Gieger C , Meisinger C , Lannfelt L , Musani SK , Griswold M , Taylor HA Jr , Wilson G Sr , Correa A , Oksa H , Scott WR , Afzal U , Tan ST , Loh M , Chambers JC , Sehmi J , Kooner JS , Lehne B , Cho YS , Lee JY , Han BG , Käräjämäki A , Qi Q , Qi L , Huang J , Hu FB , Melander O , Orho-Melander M , Below JE , Aguilar D , Wong TY , Liu J , Khor CC , Chia KS , Lim WY , Cheng CY , Chan E , Tai ES , Aung T , Linneberg A , Isomaa B , Meitinger T , Tuomi T , Hakaste L , Kravic J , Jørgensen ME , Lauritzen T , Deloukas P , Stirrups KE , Owen KR , Farmer AJ , Frayling TM , O'Rahilly SP , Walker M , Levy JC , Hodgkiss D , Hattersley AT , Kuulasmaa T , Stančáková A , Barroso I , Bharadwaj D , Chan J , Chandak GR , Daly MJ , Donnelly PJ , Ebrahim SB , Elliott P , Fingerlin T , Froguel P , Hu C , Jia W , Ma RCW , McVean G , Park T , Prabhakaran D , Sandhu M , Scott J , Sladek R , Tandon N , Teo YY , Zeggini E , Watanabe RM , Koistinen HA , Kesaniemi YA , Uusitupa M , Spector TD , Salomaa V , Rauramaa R , Palmer CNA , Prokopenko I , Morris AD , Bergman RN , Collins FS , Lind L , Ingelsson E , Tuomilehto J , Karpe F , Groop L , Jørgensen T , Hansen T , Pedersen O , Kuusisto J , Abecasis G , Bell GI , Blangero J , Cox NJ , Duggirala R , Seielstad M , Wilson JG , Dupuis J , Ripatti S , Hanis CL , Florez JC , Mohlke KL , Meigs JB , Laakso M , Morris AP , Boehnke M , Altshuler D , McCarthy MI , Gloyn AL , Lindgren CM
Published On :2017 Jul
Journal Article