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Comparative evidence for the independent evolution of hair and sweat gland traits in primates.

Authors :Kamberov YG , Guhan SM , DeMarchis A , Jiang J , Wright SS , Morgan BA , Sabeti PC , Tabin CJ , Lieberman DE
Published On :2018 Dec
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Error-prone bypass of DNA lesions during lagging-strand replication is a common source of germline and cancer mutations.

Authors :Seplyarskiy VB , Akkuratov EE , Akkuratova N , Andrianova MA , Nikolaev SI , Bazykin GA , Adameyko I , Sunyaev SR
Published On :2019 Jan
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Genome-wide discovery of epistatic loci affecting antibiotic resistance in Neisseria gonorrhoeae using evolutionary couplings.

Authors :Schubert B , Maddamsetti R , Nyman J , Farhat MR , Marks DS
Published On :2019 Feb
Journal Article


Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability.

Authors :Almontashiri NAM , Berry GT , Majzoub J , Peake RWA
Published On :2018 Dec
Case Reports Journal Article


Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

Authors :Demontis D , Walters RK , Martin J , Mattheisen M , Als TD , Agerbo E , Baldursson G , Belliveau R , Bybjerg-Grauholm J , Bækvad-Hansen M , Cerrato F , Chambert K , Churchhouse C , Dumont A , Eriksson N , Gandal M , Goldstein JI , Grasby KL , Grove J , Gudmundsson OO , Hansen CS , Hauberg ME , Hollegaard MV , Howrigan DP , Huang H , Maller JB , Martin AR , Martin NG , Moran J , Pallesen J , Palmer DS , Pedersen CB , Pedersen MG , Poterba T , Poulsen JB , Ripke S , Robinson EB , Satterstrom FK , Stefansson H , Stevens C , Turley P , Walters GB , Won H , Wright MJ , ADHD Working Group of the Psychiatric Genomics Consortium (PGC) , Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium , 23andMe Research Team , Andreassen OA , Asherson P , Burton CL , Boomsma DI , Cormand B , Dalsgaard S , Franke B , Gelernter J , Geschwind D , Hakonarson H , Haavik J , Kranzler HR , Kuntsi J , Langley K , Lesch KP , Middeldorp C , Reif A , Rohde LA , Roussos P , Schachar R , Sklar P , Sonuga-Barke EJS , Sullivan PF , Thapar A , Tung JY , Waldman ID , Medland SE , Stefansson K , Nordentoft M , Hougaard DM , Werge T , Mors O , Mortensen PB , Daly MJ , Faraone SV , Børglum AD , Neale BM
Published On :2019 Jan
Journal Article Meta-Analysis Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Reply to 'Selective effects of heterozygous protein-truncating variants'.

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 :2019 Jan
Letter Comment


Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.

Authors :Haskovic M , Derks B , van der Ploeg L , Trommelen J , Nyakayiru J , van Loon LJC , Mackinnon S , Yue WW , Peake RWA , Zha L , Demirbas D , Qi W , Huang X , Berry GT , Achten J , Bierau J , Rubio-Gozalbo ME , Coelho AI
Published On :2018 Nov 26
Journal Article Research Support, Non-U.S. Gov't


Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.

Authors :Rodan LH , Anyane-Yeboa K , Chong K , Klein Wassink-Ruiter JS , Wilson A , Smith L , Kothare SV , Rajabi F , Blaser S , Ni M , DeBerardinis RJ , Poduri A , Berry GT
Published On :2018 Dec
Case Reports Journal Article


Effects of carrier frequency mismatch on frequency-selective spectral editing.

Authors :An L , Araneta MF , Johnson C , Shen J
Published On :2019 Apr
Journal Article


Sarcopenia of the Psoas Muscles Is Associated With Poor Outcomes Following Lung Transplantation.

Authors :Hsu J , Krishnan A , Lin CT , Shah PD , Broderick SR , Higgins RSD , Merlo CA , Bush EL
Published On :2019 Apr
Comparative Study Journal Article


Fast And Simple Automatic 3D Ultrasound Probe Calibration Based On 3D Printed Phantom And An Untracked Marker.

Authors :Shen J , Zemiti N , Dillenseger JL , Poignet P
Published On :2018 Jul
Journal Article Research Support, Non-U.S. Gov't


A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia.

Authors :Song C , Li N , Hu X , Shi Y , Chen L , Zhou T , Xu X , Shen J , Zhu M
Published On :2019 Nov
Case Reports Journal Article


Free radial forearm flap and anterolateral thigh flap for reconstruction of hemiglossectomy defects: A comparison of quality of life.

Authors :Zhang PP , Meng L , Shen J , Liu H , Zhang J , Xiang X , Yan YB
Published On :2018 Dec
Comparative Study Journal Article Multicenter Study


PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.

Authors :Khalil R , Kenny C , Hill RS , Mochida GH , Nasir R , Partlow JN , Barry BJ , Al-Saffar M , Egan C , Stevens CR , Gabriel SB , Barkovich AJ , Ellison JW , Al-Gazali L , Walsh CA , Chahrour MH
Published On :2018 Dec
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Associations of urinary polycyclic aromatic hydrocarbons with age at natural menopause in U.S. women aged 35-65, NHANES 2003-2012.

Authors :Huang Y , Guo J , Lv N , Li S , Wu Y , Bai R , Shen J , Chen G , Zhang D
Published On :2018 Dec
Journal Article