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High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.

Authors :Poulsen JB , Lescai F , Grove J , Bækvad-Hansen M , Christiansen M , Hagen CM , Maller J , Stevens C , Li S , Li Q , Sun J , Wang J , Nordentoft M , Werge TM , Mortensen PB , Børglum AD , Daly M , Hougaard DM , Bybjerg-Grauholm J , Hollegaard MV
Published On :2016
Journal Article Research Support, Non-U.S. Gov't


A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies.

Authors :Bodea CA , Neale BM , Ripke S , International IBD Genetics Consortium , Daly MJ , Devlin B , Roeder K
Published On :2016 May 5
Journal Article Research Support, N.I.H., Extramural


De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

Authors :Fregeau B , Kim BJ , Hernández-García A , Jordan VK , Cho MT , Schnur RE , Monaghan KG , Juusola J , Rosenfeld JA , Bhoj E , Zackai EH , Sacharow S , Barañano K , Bosch DGM , de Vries BBA , Lindstrom K , Schroeder A , James P , Kulch P , Lalani SR , van Haelst MM , van Gassen KLI , van Binsbergen E , Barkovich AJ , Scott DA , Sherr EH
Published On :2016 May 5
Case Reports Journal Article


Institutional Cost Comparison Between Heart Transplants and Left Ventricular Assist Device Implantations.

Authors :Chimanji N , Kilic A , Hasan A , Higgins RS , Whitson BA , Kilic A
Published On :2016 Dec
Journal Article


Reduction of the n-6:n-3 long-chain PUFA ratio during pregnancy and lactation on offspring body composition: follow-up results from a randomized controlled trial up to 5 y of age.

Authors :Brei C , Stecher L , Much D , Karla MT , Amann-Gassner U , Shen J , Ganter C , Karampinos DC , Brunner S , Hauner H
Published On :2016 Jun
Journal Article Randomized Controlled Trial


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
Case Reports 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 Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


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 Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.


IQSEC2 and X-linked syndromal intellectual disability.

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


Nucleic acid memory.

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


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 Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Biosensor-based engineering of biosynthetic pathways.

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