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Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.

Authors :Wang T , Xu C , Zhou X , Li C , Zhang H , Lian BQ , Lee JJ , Shen J , Liu Y , Lian CG
Published On :2015 Sep 9
Case Reports Journal Article


Simultaneous quantification of glutamate and glutamine by J-modulated spectroscopy at 3 Tesla.

Authors :Zhang Y , Shen J
Published On :2016 Sep
Evaluation Study Journal Article


Phenotypic extremes in rare variant study designs.

Authors :Peloso GM , Rader DJ , Gabriel S , Kathiresan S , Daly MJ , Neale BM
Published On :2016 Jun
Journal Article Research Support, N.I.H., Extramural


Cas9 gRNA engineering for genome editing, activation and repression.

Authors :Kiani S , Chavez A , Tuttle M , Hall RN , Chari R , Ter-Ovanesyan D , Qian J , Pruitt BW , Beal J , Vora S , Buchthal J , Kowal EJ , Ebrahimkhani MR , Collins JJ , Weiss R , Church G
Published On :2015 Nov
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.


Erosion of the chronic myeloid leukaemia stem cell pool by PPARγ agonists.

Authors :Prost S , Relouzat F , Spentchian M , Ouzegdouh Y , Saliba J , Massonnet G , Beressi JP , Verhoeyen E , Raggueneau V , Maneglier B , Castaigne S , Chomienne C , Chrétien S , Rousselot P , Leboulch P
Published On :2015 Sep 17
Journal Article Research Support, Non-U.S. Gov't


Image-guided spatial localization of heterogeneous compartments for magnetic resonance.

Authors :An L , Shen J
Published On :2015 Sep
Journal Article Research Support, N.I.H., Intramural


Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck.

Authors :Balick DJ , Do R , Cassa CA , Reich D , Sunyaev SR
Published On :2015 Aug
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.

Authors :Hinson JT , Chopra A , Nafissi N , Polacheck WJ , Benson CC , Swist S , Gorham J , Yang L , Schafer S , Sheng CC , Haghighi A , Homsy J , Hubner N , Church G , Cook SA , Linke WA , Chen CS , Seidman JG , Seidman CE
Published On :2015 Aug 28
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Catalyst-Free, Selective Growth of ZnO Nanowires on SiO2 by Chemical Vapor Deposition for Transfer-Free Fabrication of UV Photodetectors.

Authors :Xu L , Li X , Zhan Z , Wang L , Feng S , Chai X , Lu W , Shen J , Weng Z , Sun J
Published On :2015 Sep 16
Journal Article Research Support, Non-U.S. Gov't


Molecular Mapping of Sinoatrial Node HCN Channel Expression in the Human Heart.

Authors :Li N , Csepe TA , Hansen BJ , Dobrzynski H , Higgins RS , Kilic A , Mohler PJ , Janssen PM , Rosen MR , Biesiadecki BJ , Fedorov VV
Published On :2015 Oct
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Effects of electroacupuncture therapy for Bell's palsy from acute stage: study protocol for a randomized controlled trial.

Authors :Liu ZD , He JB , Guo SS , Yang ZX , Shen J , Li XY , Liang W , Shen WD
Published On :2015 Aug 25
Journal Article Randomized Controlled Trial Research Support, Non-U.S. Gov't


Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication.

Authors :Kodani A , Yu TW , Johnson JR , Jayaraman D , Johnson TL , Al-Gazali L , Sztriha L , Partlow JN , Kim H , Krup AL , Dammermann A , Krogan NJ , Walsh CA , Reiter JF
Published On :2015 Aug 22
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Gender Disparity and Mutation Burden in Metastatic Melanoma.

Authors :Gupta S , Artomov M , Goggins W , Daly M , Tsao H
Published On :2015 Nov
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


The Matchmaker Exchange: a platform for rare disease gene discovery.

Authors :Philippakis AA , Azzariti DR , Beltran S , Brookes AJ , Brownstein CA , Brudno M , Brunner HG , Buske OJ , Carey K , Doll C , Dumitriu S , Dyke SO , den Dunnen JT , Firth HV , Gibbs RA , Girdea M , Gonzalez M , Haendel MA , Hamosh A , Holm IA , Huang L , Hurles ME , Hutton B , Krier JB , Misyura A , Mungall CJ , Paschall J , Paten B , Robinson PN , Schiettecatte F , Sobreira NL , Swaminathan GJ , Taschner PE , Terry SF , Washington NL , Züchner S , Boycott KM , Rehm HL
Published On :2015 Oct
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis.

Authors :Lee SH , Byrne EM , Hultman CM , Kähler A , Vinkhuyzen AA , Ripke S , Andreassen OA , Frisell T , Gusev A , Hu X , Karlsson R , Mantzioris VX , McGrath JJ , Mehta D , Stahl EA , Zhao Q , Kendler KS , Sullivan PF , Price AL , O'Donovan M , Okada Y , Mowry BJ , Raychaudhuri S , Wray NR , Schizophrenia Working Group of the Psychiatric Genomics Consortium and Rheumatoid Arthritis Consortium International , Schizophrenia Working Group of the Psychiatric Genomics Consortium Authors , Byerley W , Cahn W , Cantor RM , Cichon S , Cormican P , Curtis D , Djurovic S , Escott-Price V , Gejman PV , Georgieva L , Giegling I , Hansen TF , Ingason A , Kim Y , Konte B , Lee PH , McIntosh A , McQuillin A , Morris DW , Nöthen MM , O'Dushlaine C , Olincy A , Olsen L , Pato CN , Pato MT , Pickard BS , Posthuma D , Rasmussen HB , Rietschel M , Rujescu D , Schulze TG , Silverman JM , Thirumalai S , Werge T , Schizophrenia Working Group of the Psychiatric Genomics Consortium Collaborators , Agartz I , Amin F , Azevedo MH , Bass N , Black DW , Blackwood DH , Bruggeman R , Buccola NG , Choudhury K , Cloninger RC , Corvin A , Craddock N , Daly MJ , Datta S , Donohoe GJ , Duan J , Dudbridge F , Fanous A , Freedman R , Freimer NB , Friedl M , Gill M , Gurling H , De Haan L , Hamshere ML , Hartmann AM , Holmans PA , Kahn RS , Keller MC , Kenny E , Kirov GK , Krabbendam L , Krasucki R , Lawrence J , Lencz T , Levinson DF , Lieberman JA , Lin DY , Linszen DH , Magnusson PK , Maier W , Malhotra AK , Mattheisen M , Mattingsdal M , McCarroll SA , Medeiros H , Melle I , Milanova V , Myin-Germeys I , Neale BM , Ophoff RA , Owen MJ , Pimm J , Purcell SM , Puri V , Quested DJ , Rossin L , Ruderfer D , Sanders AR , Shi J , Sklar P , St Clair D , Stroup TS , Van Os J , Visscher PM , Wiersma D , Zammit S , Rheumatoid Arthritis Consortium International Authors , Bridges SL Jr , Choi HK , Coenen MJ , de Vries N , Dieud P , Greenberg JD , Huizinga TW , Padyukov L , Siminovitch KA , Tak PP , Worthington J , Rheumatoid Arthritis Consortium International Collaborators , De Jager PL , Denny JC , Gregersen PK , Klareskog L , Mariette X , Plenge RM , van Laar M , van Riel P
Published On :2015 Oct
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't