Share

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.

Authors :Horvat C , Johnson R , Lam L , Munro J , Mazzarotto F , Roberts AM , Herman DS , Parfenov M , Haghighi A , McDonough B , DePalma SR , Keogh AM , Macdonald PS , Hayward CS , Roberts A , Barton PJR , Felkin LE , Giannoulatou E , Cook SA , Seidman JG , Seidman CE , Fatkin D
Published On :2019 Jan
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Building Capacity for a Global Genome Editing Observatory: Institutional Design.

Authors :Saha K , Hurlbut JB , Jasanoff S , Ahmed A , Appiah A , Bartholet E , Baylis F , Bennett G , Church G , Cohen IG , Daley G , Finneran K , Hurlbut W , Jaenisch R , Lwoff L , Kimes JP , Mills P , Moses J , Park BS , Parens E , Salzman R , Saxena A , Simmet H , Simoncelli T , Snead OC , Rajan KS , Truog RD , Williams P , Woopen C
Published On :2018 Aug
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.


Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study.

Authors :Olsen L , Sparsø T , Weinsheimer SM , Dos Santos MBQ , Mazin W , Rosengren A , Sanchez XC , Hoeffding LK , Schmock H , Baekvad-Hansen M , Bybjerg-Grauholm J , Daly MJ , Neale BM , Pedersen MG , Agerbo E , Mors O , Børglum A , Nordentoft M , Hougaard DM , Mortensen PB , Geschwind DH , Pedersen C , Thompson WK , Werge T
Published On :2018 Jul
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Morphogenesis and motility of the Astyanax mexicanus gastrointestinal tract.

Authors :Riddle MR , Boesmans W , Caballero O , Kazwiny Y , Tabin CJ
Published On :2018 Sep 15
Journal Article Research Support, N.I.H., Extramural


Building Capacity for a Global Genome Editing Observatory: Conceptual Challenges.

Authors :Hurlbut JB , Jasanoff S , Saha K , Ahmed A , Appiah A , Bartholet E , Baylis F , Bennett G , Church G , Cohen IG , Daley G , Finneran K , Hurlbut W , Jaenisch R , Lwoff L , Kimes JP , Mills P , Moses J , Park BS , Parens E , Salzman R , Saxena A , Simmet H , Simoncelli T , Snead OC , Rajan KS , Truog RD , Williams P , Woopen C
Published On :2018 Jul
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.


Making a Notch in the Evolution of the Human Cortex.

Authors :Bizzotto S , Walsh CA
Published On :2018 Jun 4
Journal Article Comment


Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.

Authors :Ganna A , Satterstrom FK , Zekavat SM , Das I , Kurki MI , Churchhouse C , Alfoldi J , Martin AR , Havulinna AS , Byrnes A , Thompson WK , Nielsen PR , Karczewski KJ , Saarentaus E , Rivas MA , Gupta N , Pietiläinen O , Emdin CA , Lescai F , Bybjerg-Grauholm J , Flannick J , GoT2D/T2D-GENES Consortium , Mercader JM , Udler M , SIGMA Consortium Helmsley IBD Exome Sequencing Project , FinMetSeq Consortium , iPSYCH-Broad Consortium , Laakso M , Salomaa V , Hultman C , Ripatti S , Hämäläinen E , Moilanen JS , Körkkö J , Kuismin O , Nordentoft M , Hougaard DM , Mors O , Werge T , Mortensen PB , MacArthur D , Daly MJ , Sullivan PF , Locke AE , Palotie A , Børglum AD , Kathiresan S , Neale BM
Published On :2018 Jun 7
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Late-Onset Crohn's Disease Is A Subgroup Distinct in Genetic and Behavioral Risk Factors With UC-Like Characteristics.

Authors :Li D , Haritunians T , Landers C , Potdar AA , Yang S , Huang H , Schumm LP , Daly M , Targan SR , McGovern DPB
Published On :2018 Oct 12
Journal Article Research Support, N.I.H., Extramural


Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides.

Authors :Zhang S , Samocha KE , Rivas MA , Karczewski KJ , Daly E , Schmandt B , Neale BM , MacArthur DG , Daly MJ
Published On :2018 Jul
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Hemoglobin disorders: lentiviral gene therapy in the starting blocks to enter clinical practice.

Authors :Sii-Felice K , Giorgi M , Leboulch P , Payen E
Published On :2018 Aug
Journal Article Research Support, Non-U.S. Gov't Review


High-throughput and selective solid-phase extraction of urinary catecholamines by crown ether-modified resin composite fiber.

Authors :Chen L , Wang H , Xu Z , Zhang Q , Liu J , Shen J , Zhang W
Published On :2018 Aug 3
Journal Article


The Genetics of Primary Microcephaly.

Authors :Jayaraman D , Bae BI , Walsh CA
Published On :2018 Aug 31
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review


Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Authors :Rivas MA , Avila BE , Koskela J , Huang H , Stevens C , Pirinen M , Haritunians T , Neale BM , Kurki M , Ganna A , Graham D , Glaser B , Peter I , Atzmon G , Barzilai N , Levine AP , Schiff E , Pontikos N , Weisburd B , Lek M , Karczewski KJ , Bloom J , Minikel EV , Petersen BS , Beaugerie L , Seksik P , Cosnes J , Schreiber S , Bokemeyer B , Bethge J , International IBD Genetics Consortium , NIDDK IBD Genetics Consortium , T2D-GENES Consortium , Heap G , Ahmad T , Plagnol V , Segal AW , Targan S , Turner D , Saavalainen P , Farkkila M , Kontula K , Palotie A , Brant SR , Duerr RH , Silverberg MS , Rioux JD , Weersma RK , Franke A , Jostins L , Anderson CA , Barrett JC , MacArthur DG , Jalas C , Sokol H , Xavier RJ , Pulver A , Cho JH , McGovern DPB , Daly MJ
Published On :2018 May
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Anthropometry-based 24-h urinary creatinine excretion reference for Chinese children.

Authors :Wang W , Du C , Lin L , Chen W , Tan L , Shen J , Pearce EN , Zhang Y , Gao M , Bian J , Wang X , Zhang W
Published On :2018
Journal Article Research Support, Non-U.S. Gov't


High-throughput creation and functional profiling of DNA sequence variant libraries using CRISPR-Cas9 in yeast.

Authors :Guo X , Chavez A , Tung A , Chan Y , Kaas C , Yin Y , Cecchi R , Garnier SL , Kelsic ED , Schubert M , DiCarlo JE , Collins JJ , Church GM
Published On :2018 Jul
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't