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Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland.

Authors :Martin AR , Karczewski KJ , Kerminen S , Kurki MI , Sarin AP , Artomov M , Eriksson JG , Esko T , Genovese G , Havulinna AS , Kaprio J , Konradi A , Korányi L , Kostareva A , Männikkö M , Metspalu A , Perola M , Prasad RB , Raitakari O , Rotar O , Salomaa V , Groop L , Palotie A , Neale BM , Ripatti S , Pirinen M , Daly MJ
Published On :2018 May 3
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Temperature preference of cave and surface populations of Astyanax mexicanus.

Authors :Tabin JA , Aspiras A , Martineau B , Riddle M , Kowalko J , Borowsky R , Rohner N , Tabin CJ
Published On :2018 Sep 15
Journal Article Research Support, N.I.H., Extramural


An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.

Authors :Werling DM , Brand H , An JY , Stone MR , Zhu L , Glessner JT , Collins RL , Dong S , Layer RM , Markenscoff-Papadimitriou E , Farrell A , Schwartz GB , Wang HZ , Currall BB , Zhao X , Dea J , Duhn C , Erdman CA , Gilson MC , Yadav R , Handsaker RE , Kashin S , Klei L , Mandell JD , Nowakowski TJ , Liu Y , Pochareddy S , Smith L , Walker MF , Waterman MJ , He X , Kriegstein AR , Rubenstein JL , Sestan N , McCarroll SA , Neale BM , Coon H , Willsey AJ , Buxbaum JD , Daly MJ , State MW , Quinlan AR , Marth GT , Roeder K , Devlin B , Talkowski ME , Sanders SJ
Published On :2018 Apr 26
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


The ethics of experimenting with human brain tissue.

Authors :Farahany NA , Greely HT , Hyman S , Koch C , Grady C , Pașca SP , Sestan N , Arlotta P , Bernat JL , Ting J , Lunshof JE , Iyer EPR , Hyun I , Capestany BH , Church GM , Huang H , Song H
Published On :2018 Apr
Journal Article


Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.

Authors :DeBoever C , Tanigawa Y , Lindholm ME , McInnes G , Lavertu A , Ingelsson E , Chang C , Ashley EA , Bustamante CD , Daly MJ , Rivas MA
Published On :2018 Apr 24
Journal Article Research Support, Non-U.S. Gov't


Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.

Authors :Rodan LH , Hauptman M , D'Gama AM , Qualls AE , Cao S , Tuschl K , Al-Jasmi F , Hertecant J , Hayflick SJ , Wessling-Resnick M , Yang ET , Berry GT , Gropman A , Woolf AD , Agrawal PB
Published On :2018 Jun
Case Reports 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. Research Support, U.S. Gov't, P.H.S.


Systematic review of preservation solutions for allografts for liver transplantation based on a network meta-analysis.

Authors :Rao F , Yang J , Gong C , Huang R , Wang Q , Shen J
Published On :2018 Jun
Journal Article Systematic Review Network Meta-Analysis


An Integrated Genome-wide CRISPRa Approach to Functionalize lncRNAs in Drug Resistance.

Authors :Bester AC , Lee JD , Chavez A , Lee YR , Nachmani D , Vora S , Victor J , Sauvageau M , Monteleone E , Rinn JL , Provero P , Church GM , Clohessy JG , Pandolfi PP
Published On :2018 Apr 19
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Enabling multiplexed testing of pooled donor cells through whole-genome sequencing.

Authors :Chan Y , Chan YK , Goodman DB , Guo X , Chavez A , Lim ET , Church GM
Published On :2018 Apr 19
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia.

Authors :Thompson AA , Walters MC , Kwiatkowski J , Rasko JEJ , Ribeil JA , Hongeng S , Magrin E , Schiller GJ , Payen E , Semeraro M , Moshous D , Lefrere F , Puy H , Bourget P , Magnani A , Caccavelli L , Diana JS , Suarez F , Monpoux F , Brousse V , Poirot C , Brouzes C , Meritet JF , Pondarré C , Beuzard Y , Chrétien S , Lefebvre T , Teachey DT , Anurathapan U , Ho PJ , von Kalle C , Kletzel M , Vichinsky E , Soni S , Veres G , Negre O , Ross RW , Davidson D , Petrusich A , Sandler L , Asmal M , Hermine O , De Montalembert M , Hacein-Bey-Abina S , Blanche S , Leboulch P , Cavazzana M
Published On :2018 Apr 19
Clinical Trial, Phase I Clinical Trial, Phase II Journal Article Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't


Identification of carbapenem-resistant Pseudomonas aeruginosa in selected hospitals of the Gulf Cooperation Council States: dominance of high-risk clones in the region.

Authors :Zowawi HM , Syrmis MW , Kidd TJ , Balkhy HH , Walsh TR , Al Johani SM , Al Jindan RY , Alfaresi M , Ibrahim E , Al-Jardani A , Al Salman J , Dashti AA , Sidjabat HE , Baz O , Trembizki E , Whiley DM , Paterson DL
Published On :2018 Jun
Journal Article


Health-Related Quality of Life in Patients with Arthritis: A Cross-Sectional Survey among Middle-Aged Adults in Chongqing, China.

Authors :Rao Y , Xu X , Liu D , Reis C , Newman IM , Qin L , Sharma M , Shen J , Zhao Y
Published On :2018 Apr 16
Journal Article Research Support, Non-U.S. Gov't


A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Authors :Olson HE , Jean-Marçais N , Yang E , Heron D , Tatton-Brown K , van der Zwaag PA , Bijlsma EK , Krock BL , Backer E , Kamsteeg EJ , Sinnema M , Reijnders MRF , Bearden D , Begtrup A , Telegrafi A , Lunsing RJ , Burglen L , Lesca G , Cho MT , Smith LA , Sheidley BR , Moufawad El Achkar C , Pearl PL , Poduri A , Skraban CM , Tarpinian J , Nesbitt AI , Fransen van de Putte DE , Ruivenkamp CAL , Rump P , Chatron N , Sabatier I , De Bellescize J , Guibaud L , Sweetser DA , Waxler JL , Wierenga KJ , DDD Study , Donadieu J , Narayanan V , Ramsey KM , C4RCD Research Group , Nava C , Rivière JB , Vitobello A , Tran Mau-Them F , Philippe C , Bruel AL , Duffourd Y , Thomas L , Lelieveld SH , Schuurs-Hoeijmakers J , Brunner HG , Keren B , Thevenon J , Faivre L , Thomas G , Thauvin-Robinet C
Published On :2018 May 3
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size.

Authors :Johnson MB , Sun X , Kodani A , Borges-Monroy R , Girskis KM , Ryu SC , Wang PP , Patel K , Gonzalez DM , Woo YM , Yan Z , Liang B , Smith RS , Chatterjee M , Coman D , Papademetris X , Staib LH , Hyder F , Mandeville JB , Grant PE , Im K , Kwak H , Engelhardt JF , Walsh CA , Bae BI
Published On :2018 Apr
Journal Article Research Support, Non-U.S. Gov't