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Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree.

Authors :Wang T , Xu CC , Zhou XP , Lee JJ , Shen J , Lian BQ , Liu YH , Lian CG
Published On :2015 Mar
Journal Article


De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.

Authors :Okur V , Cho MT , Henderson L , Retterer K , Schneider M , Sattler S , Niyazov D , Azage M , Smith S , Picker J , Lincoln S , Tarnopolsky M , Brady L , Bjornsson HT , Applegate C , Dameron A , Willaert R , Baskin B , Juusola J , Chung WK
Published On :2016 Jul
Journal Article


Performance of optimized noncanonical amino acid mutagenesis systems in the absence of release factor 1.

Authors :Zheng Y , Lajoie MJ , Italia JS , Chin MA , Church GM , Chatterjee A
Published On :2016 May 24
Journal Article


Gap Junctions Contribute to the Regulation of Walking-Like Activity in the Adult Mudpuppy (Necturus Maculatus).

Authors :Lavrov I , Fox L , Shen J , Han Y , Cheng J
Published On :2016
Journal Article


Percutaneous umbilical blood sampling: current trends and outcomes.

Authors :Bigelow CA , Cinelli CM , Little SE , Benson CB , Frates MC , Wilkins-Haug LE
Published On :2016 May
Journal Article


Survey of variation in human transcription factors reveals prevalent DNA binding changes.

Authors :Barrera LA , Vedenko A , Kurland JV , Rogers JM , Gisselbrecht SS , Rossin EJ , Woodard J , Mariani L , Kock KH , Inukai S , Siggers T , Shokri L , Gordân R , Sahni N , Cotsapas C , Hao T , Yi S , Kellis M , Daly MJ , Vidal M , Hill DE , Bulyk ML
Published On :2016 Mar 25
Journal Article


IQSEC2 and X-linked syndromal intellectual disability.

Authors :Alexander-Bloch AF , McDougle CJ , Ullman Z , Sweetser DA
Published On :2016 Jun
Journal Article


Nucleic acid memory.

Authors :Zhirnov V , Zadegan RM , Sandhu GS , Church GM , Hughes WL
Published On :2016 Apr
Journal Article


Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.

Authors :Robinson EB , St Pourcain B , Anttila V , Kosmicki JA , Bulik-Sullivan B , Grove J , Maller J , Samocha KE , Sanders SJ , Ripke S , Martin J , Hollegaard MV , Werge T , Hougaard DM , iPSYCH-SSI-Broad Autism Group , Neale BM , Evans DM , Skuse D , Mortensen PB , Børglum AD , Ronald A , Smith GD , Daly MJ
Published On :2016 May
Journal Article


Biosensor-based engineering of biosynthetic pathways.

Authors :Rogers JK , Taylor ND , Church GM
Published On :2016 Dec
Journal Article Review


MR imaging features and staging of neuroendocrine carcinomas of the uterine cervix with pathological correlations.

Authors :Duan X , Ban X , Zhang X , Hu H , Li G , Wang D , Wang CQ , Zhang F , Shen J
Published On :2016 Dec
Journal Article


Non-ionizing real-time ultrasonography in implant and oral surgery: A feasibility study.

Authors :Chan HL , Wang HL , Fowlkes JB , Giannobile WV , Kripfgans OD
Published On :2017 Mar
Journal Article


An integrated miRNA functional screening and target validation method for organ morphogenesis.

Authors :Rebustini IT , Vlahos M , Packer T , Kukuruzinska MA , Maas RL
Published On :2016 Mar 16
Journal Article


Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans.

Authors :Cade BE , Chen H , Stilp AM , Gleason KJ , Sofer T , Ancoli-Israel S , Arens R , Bell GI , Below JE , Bjonnes AC , Chun S , Conomos MP , Evans DS , Johnson WC , Frazier-Wood AC , Lane JM , Larkin EK , Loredo JS , Post WS , Ramos AR , Rice K , Rotter JI , Shah NA , Stone KL , Taylor KD , Thornton TA , Tranah GJ , Wang C , Zee PC , Hanis CL , Sunyaev SR , Patel SR , Laurie CC , Zhu X , Saxena R , Lin X , Redline S
Published On :2016 Oct 1
Journal Article


Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

Authors :Singh T , Kurki MI , Curtis D , Purcell SM , Crooks L , McRae J , Suvisaari J , Chheda H , Blackwood D , Breen G , Pietiläinen O , Gerety SS , Ayub M , Blyth M , Cole T , Collier D , Coomber EL , Craddock N , Daly MJ , Danesh J , DiForti M , Foster A , Freimer NB , Geschwind D , Johnstone M , Joss S , Kirov G , Körkkö J , Kuismin O , Holmans P , Hultman CM , Iyegbe C , Lönnqvist J , Männikkö M , McCarroll SA , McGuffin P , McIntosh AM , McQuillin A , Moilanen JS , Moore C , Murray RM , Newbury-Ecob R , Ouwehand W , Paunio T , Prigmore E , Rees E , Roberts D , Sambrook J , Sklar P , St Clair D , Veijola J , Walters JT , Williams H , Swedish Schizophrenia Study , INTERVAL Study , DDD Study , UK10 K Consortium , Sullivan PF , Hurles ME , O'Donovan MC , Palotie A , Owen MJ , Barrett JC
Published On :2016 Apr
Journal Article