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Accurate whole genome sequencing as the ultimate genetic test.

Authors :Drmanac R , Peters BA , Church GM , Reid CA , Xu X
Published On :2015 Jan
Journal Article


CT and MR findings in 16 cases of primary neuroendocrine carcinoma in the otolaryngeal region.

Authors :Zhou C , Duan X , Liao D , Liao J , Shen J
Published On :2015 Mar-Apr
Journal Article


Muscle wasting and early mobilization in acute respiratory distress syndrome.

Authors :Walsh CJ , Batt J , Herridge MS , Dos Santos CC
Published On :2014 Dec
Journal Article Review


Evolution-guided optimization of biosynthetic pathways.

Authors :Raman S , Rogers JK , Taylor ND , Church GM
Published On :2014 Dec 16
Journal Article


The association of chronic lung disease with early mortality and respiratory adverse events after aortic valve replacement.

Authors :Crestanello JA , Higgins RS , He X , Saha-Chaudhuri P , Englum BR , Brennan JM , Thourani VH
Published On :2014 Dec
Journal Article Multicenter Study


Claudin-5 levels are reduced from multiple cell types in human failing hearts and are associated with mislocalization of ephrin-B1.

Authors :Swager SA , Delfín DA , Rastogi N , Wang H , Canan BD , Fedorov VV , Mohler PJ , Kilic A , Higgins RSD , Ziolo MT , Janssen PML , Rafael-Fortney JA
Published On :2015 May-Jun
Journal Article


Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.

Authors :Gusev A , Lee SH , Trynka G , Finucane H , Vilhjálmsson BJ , Xu H , Zang C , Ripke S , Bulik-Sullivan B , Stahl E , Schizophrenia Working Group of the Psychiatric Genomics Consortium , SWE-SCZ Consortium , Kähler AK , Hultman CM , Purcell SM , McCarroll SA , Daly M , Pasaniuc B , Sullivan PF , Neale BM , Wray NR , Raychaudhuri S , Price AL , Schizophrenia Working Group of the Psychiatric Genomics Consortium , SWE-SCZ Consortium
Published On :2014 Nov 6
Journal Article


A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.

Authors :Lim ET , Liu YP , Chan Y , Tiinamaija T , Käräjämäki A , Madsen E , Go-T2D Consortium , Altshuler DM , Raychaudhuri S , Groop L , Flannick J , Hirschhorn JN , Katsanis N , Daly MJ
Published On :2014 Nov 6
Journal Article


Preclinical evaluation of efficacy and safety of an improved lentiviral vector for the treatment of β-thalassemia and sickle cell disease.

Authors :Negre O , Bartholomae C , Beuzard Y , Cavazzana M , Christiansen L , Courne C , Deichmann A , Denaro M , de Dreuzy E , Finer M , Fronza R , Gillet-Legrand B , Joubert C , Kutner R , Leboulch P , Maouche L , Paulard A , Pierciey FJ , Rothe M , Ryu B , Schmidt M , von Kalle C , Payen E , Veres G
Published On :2015
Journal Article


Menkes disease in affected females: the clinical disease spectrum.

Authors :Smpokou P , Samanta M , Berry GT , Hecht L , Engle EC , Lichter-Konecki U
Published On :2015 Feb
Journal Article Review


Targeted and genome-wide sequencing reveal single nucleotide variations impacting specificity of Cas9 in human stem cells.

Authors :Yang L , Grishin D , Wang G , Aach J , Zhang CZ , Chari R , Homsy J , Cai X , Zhao Y , Fan JB , Seidman C , Seidman J , Pu W , Church G
Published On :2014 Nov 26
Journal Article


Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.

Authors :Hildebrandt J , Yalcin E , Bresser HG , Cinel G , Gappa M , Haghighi A , Kiper N , Khalilzadeh S , Reiter K , Sayer J , Schwerk N , Sibbersen A , Van Daele S , Nübling G , Lohse P , Griese M
Published On :2014 Nov 26
Journal Article Multicenter Study


Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes.

Authors :Hoehe MR , Church GM , Lehrach H , Kroslak T , Palczewski S , Nowick K , Schulz S , Suk EK , Huebsch T
Published On :2014 Nov 26
Journal Article


Different therapeutic approaches on quality of life in patients with inflammatory bowel disease.

Authors :Xu J , Lin H , Feng X , Tang M , Shen J , Ran Z
Published On :2014 Nov 25
Journal Article


Epigenetics and its role in periodontal diseases: a state-of-the-art review.

Authors :Larsson L , Castilho RM , Giannobile WV
Published On :2015 Apr
Journal Article Review