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Predicting functional effect of human missense mutations using PolyPhen-2.

Authors :Adzhubei I , Jordan DM , Sunyaev SR
Published On :2013 Jan
Journal Article


Noonan syndrome.

Authors :Roberts AE , Allanson JE , Tartaglia M , Gelb BD
Published On :2013 Jan 26
Journal Article Review


Using bacteria to determine protein kinase specificity and predict target substrates.

Authors :Chou MF , Prisic S , Lubner JM , Church GM , Husson RN , Schwartz D
Published On :2012
Journal Article


RNA-guided human genome engineering via Cas9.

Authors :Mali P , Yang L , Esvelt KM , Aach J , Guell M , DiCarlo JE , Norville JE , Church GM
Published On :2013 Feb 15
Journal Article


MicroRNAs in cardiovascular disease: from pathogenesis to prevention and treatment.

Authors :Quiat D , Olson EN
Published On :2013 Jan
Journal Article Review



Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.

Authors :Dies KA , Bodell A , Hisama FM , Guo CY , Barry B , Chang BS , Barkovich AJ , Walsh CA
Published On :2013 Feb
Journal Article


Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion.

Authors :Huyghe JR , Jackson AU , Fogarty MP , Buchkovich ML , Stančáková A , Stringham HM , Sim X , Yang L , Fuchsberger C , Cederberg H , Chines PS , Teslovich TM , Romm JM , Ling H , McMullen I , Ingersoll R , Pugh EW , Doheny KF , Neale BM , Daly MJ , Kuusisto J , Scott LJ , Kang HM , Collins FS , Abecasis GR , Watanabe RM , Boehnke M , Laakso M , Mohlke KL
Published On :2013 Feb
Journal Article


Codon randomization for rapid exploration of chemical space in thiopeptide antibiotic variants.

Authors :Young TS , Dorrestein PC , Walsh CT
Published On :2012 Dec 21
Journal Article


Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis.

Authors :Diogo D , Kurreeman F , Stahl EA , Liao KP , Gupta N , Greenberg JD , Rivas MA , Hickey B , Flannick J , Thomson B , Guiducci C , Ripke S , Adzhubey I , Barton A , Kremer JM , Alfredsson L , Consortium of Rheumatology Researchers of North America , Rheumatoid Arthritis Consortium International , Sunyaev S , Martin J , Zhernakova A , Bowes J , Eyre S , Siminovitch KA , Gregersen PK , Worthington J , Klareskog L , Padyukov L , Raychaudhuri S , Plenge RM
Published On :2013 Jan 10
Journal Article


The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders.

Authors :Buxbaum JD , Daly MJ , Devlin B , Lehner T , Roeder K , State MW , Autism Sequencing Consortium
Published On :2012 Dec 20
Consensus Development Conference Journal Article


Thermal Annealing Effect on Optical Properties of Binary TiO₂-SiO₂ Sol-Gel Coatings.

Authors :Wang X , Wu G , Zhou B , Shen J
Published On :2012 Dec 24
Journal Article


Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Authors :Akawi NA , Canpolat FE , White SM , Quilis-Esquerra J , Morales Sanchez M , Gamundi MJ , Mochida GH , Walsh CA , Ali BR , Al-Gazali L
Published On :2013 Mar
Journal Article


Age-modulated association between prefrontal NAA and the BDNF gene.

Authors :Salehi B , Preuss N , van der Veen JW , Shen J , Neumeister A , Drevets WC , Hodgkinson C , Goldman D , Wendland JR , Singleton A , Gibbs JR , Cookson MR , Hasler G
Published On :2013 Jul
Journal Article


Advances in stem cell transplantation and gene therapy in the β-hemoglobinopathies.

Authors :Payen E , Leboulch P
Published On :2012
Journal Article Review