Share

Genome-wide patterns and properties of de novo mutations in humans.

Authors :Francioli LC , Polak PP , Koren A , Menelaou A , Chun S , Renkens I , Genome of the Netherlands Consortium , van Duijn CM , Swertz M , Wijmenga C , van Ommen G , Slagboom PE , Boomsma DI , Ye K , Guryev V , Arndt PF , Kloosterman WP , de Bakker PIW , Sunyaev SR
Published On :2015 Jul
Journal Article



Genetics of GNE myopathy in the non-Jewish Persian population.

Authors :Haghighi A , Nafissi S , Qurashi A , Tan Z , Shamshiri H , Nilipour Y , Haghighi A , Desnick RJ , Kornreich R
Published On :2016 Feb
Journal Article


Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.

Authors :Rivas MA , Pirinen M , Conrad DF , Lek M , Tsang EK , Karczewski KJ , Maller JB , Kukurba KR , DeLuca DS , Fromer M , Ferreira PG , Smith KS , Zhang R , Zhao F , Banks E , Poplin R , Ruderfer DM , Purcell SM , Tukiainen T , Minikel EV , Stenson PD , Cooper DN , Huang KH , Sullivan TJ , Nedzel J , GTEx Consortium , Geuvadis Consortium , Bustamante CD , Li JB , Daly MJ , Guigo R , Donnelly P , Ardlie K , Sammeth M , Dermitzakis ET , McCarthy MI , Montgomery SB , Lappalainen T , MacArthur DG
Published On :2015 May 8
Journal Article


BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.

Authors :Basak A , Hancarova M , Ulirsch JC , Balci TB , Trkova M , Pelisek M , Vlckova M , Muzikova K , Cermak J , Trka J , Dyment DA , Orkin SH , Daly MJ , Sedlacek Z , Sankaran VG
Published On :2015 Jun
Clinical Trial Journal Article


A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

Authors :Migliavacca E , Golzio C , Männik K , Blumenthal I , Oh EC , Harewood L , Kosmicki JA , Loviglio MN , Giannuzzi G , Hippolyte L , Maillard AM , Alfaiz AA , 16p11.2 European Consortium , van Haelst MM , Andrieux J , Gusella JF , Daly MJ , Beckmann JS , Jacquemont S , Talkowski ME , Katsanis N , Reymond A
Published On :2015 May 7
Journal Article


The North American Fetal Therapy Network Consensus Statement: prenatal management of uncomplicated monochorionic gestations.

Authors :Emery SP , Bahtiyar MO , Dashe JS , Wilkins-Haug LE , Johnson A , Paek BW , Moon-Grady AJ , Skupski DW , O'Brien BM , Harman CR , Simpson LL
Published On :2015 May
Consensus Development Conference Journal Article


(13)C MRS of human brain at 7 Tesla using [2-(13)C]glucose infusion and low power broadband stochastic proton decoupling.

Authors :Li S , An L , Yu S , Ferraris Araneta M , Johnson CS , Wang S , Shen J
Published On :2016 Mar
Journal Article


Widespread macromolecular interaction perturbations in human genetic disorders.

Authors :Sahni N , Yi S , Taipale M , Fuxman Bass JI , Coulombe-Huntington J , Yang F , Peng J , Weile J , Karras GI , Wang Y , Kovács IA , Kamburov A , Krykbaeva I , Lam MH , Tucker G , Khurana V , Sharma A , Liu YY , Yachie N , Zhong Q , Shen Y , Palagi A , San-Miguel A , Fan C , Balcha D , Dricot A , Jordan DM , Walsh JM , Shah AA , Yang X , Stoyanova AK , Leighton A , Calderwood MA , Jacob Y , Cusick ME , Salehi-Ashtiani K , Whitesell LJ , Sunyaev S , Berger B , Barabási AL , Charloteaux B , Hill DE , Hao T , Roth FP , Xia Y , Walhout AJM , Lindquist S , Vidal M
Published On :2015 Apr 23
Journal Article


Gene Expression by Mouse Inner Ear Hair Cells during Development.

Authors :Scheffer DI , Shen J , Corey DP , Chen ZY
Published On :2015 Apr 22
Journal Article


Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Authors :Mlynarski EE , Sheridan MB , Xie M , Guo T , Racedo SE , McDonald-McGinn DM , Gai X , Chow EW , Vorstman J , Swillen A , Devriendt K , Breckpot J , Digilio MC , Marino B , Dallapiccola B , Philip N , Simon TJ , Roberts AE , Piotrowicz M , Bearden CE , Eliez S , Gothelf D , Coleman K , Kates WR , Devoto M , Zackai E , Heine-Suñer D , Shaikh TH , Bassett AS , Goldmuntz E , Morrow BE , Emanuel BS , International Chromosome 22q11.2 Consortium
Published On :2015 May 7
Journal Article


CNTNAP3 associated ATG16L1 expression and Crohn's disease.

Authors :Qiao YQ , Huang ML , Zheng Q , Wang TR , Xu AT , Cao Y , Zhao D , Ran ZH , Shen J
Published On :2015
Journal Article


Wound models for periodontal and bone regeneration: the role of biologic research.

Authors :Sculean A , Chapple IL , Giannobile WV
Published On :2015 Jun


Bending gradients: how the intestinal stem cell gets its home.

Authors :Shyer AE , Huycke TR , Lee C , Mahadevan L , Tabin CJ
Published On :2015 Apr 23
Journal Article


MR-detected changes in liver fat, abdominal fat, and vertebral bone marrow fat after a four-week calorie restriction in obese women.

Authors :Cordes C , Dieckmeyer M , Ott B , Shen J , Ruschke S , Settles M , Eichhorn C , Bauer JS , Kooijman H , Rummeny EJ , Skurk T , Baum T , Hauner H , Karampinos DC
Published On :2015 Nov
Journal Article