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Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.

Authors :Fahed AC , Wang M , Homburger JR , Patel AP , Bick AG , Neben CL , Lai C , Brockman D , Philippakis A , Ellinor PT , Cassa CA , Lebo M , Ng K , Lander ES , Zhou AY , Kathiresan S , Khera AV
Published On :2020 Aug 20
Journal Article


APP gene copy number changes reflect exogenous contamination.

Authors :Kim J , Zhao B , Huang AY , Miller MB , Lodato MA , Walsh CA , Lee EA
Published On :2020 Aug
Letter Comment


De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.

Authors :Boskovski MT , Homsy J , Nathan M , Sleeper LA , Morton S , Manheimer KB , Tai A , Gorham J , Lewis M , Swartz M , Alfieris GM , Bacha EA , Karimi M , Meyer D , Nguyen K , Bernstein D , Romano-Adesman A , Porter GA Jr , Goldmuntz E , Chung WK , Srivastava D , Kaltman JR , Tristani-Firouzi M , Lifton R , Roberts AE , Gaynor JW , Gelb BD , Kim R , Seidman JG , Brueckner M , Mayer JE Jr , Newburger JW , Seidman CE
Published On :2020 Aug
Journal Article


Galactokinase deficiency: lessons from the GalNet registry.

Authors :Rubio-Gozalbo ME , Derks B , Das AM , Meyer U , Möslinger D , Couce ML , Empain A , Ficicioglu C , Juliá Palacios N , De Los Santos De Pelegrin MM , Rivera IA , Scholl-Bürgi S , Bosch AM , Cassiman D , Demirbas D , Gautschi M , Knerr I , Labrune P , Skouma A , Verloo P , Wortmann SB , Treacy EP , Timson DJ , Berry GT
Published On :2021 Jan
Journal Article


Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.

Authors :Heyne HO , Baez-Nieto D , Iqbal S , Palmer DS , Brunklaus A , May P , Epi25 Collaborative , Johannesen KM , Lauxmann S , Lemke JR , Møller RS , Pérez-Palma E , Scholl UI , Syrbe S , Lerche H , Lal D , Campbell AJ , Wang HR , Pan J , Daly MJ
Published On :2020 Aug 12
Journal Article


A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate.

Authors :Sylvester B , Brindopke F , Suzuki A , Giron M , Auslander A , Maas RL , Tsai B , Gao H , Magee W 3rd , Cox TC , Sanchez-Lara PA
Published On :2020 Aug 7
Journal Article


Paclitaxel Promotes Tumor-Infiltrating Macrophages in Breast Cancer.

Authors :Shen J , Chen C , Li Z , Hu S
Published On :2020 Jan-Dec
Journal Article


FH Tumor Predisposition Syndrome.

Authors :Adam MP , Feldman J , Mirzaa GM , Pagon RA , Wallace SE , Amemiya A , Kamihara J , Schultz KA , Rana HQ
Published On :1993
Review


GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.

Authors :Zhou W , Brumpton B , Kabil O , Gudmundsson J , Thorleifsson G , Weinstock J , Zawistowski M , Nielsen JB , Chaker L , Medici M , Teumer A , Naitza S , Sanna S , Schultheiss UT , Cappola A , Karjalainen J , Kurki M , Oneka M , Taylor P , Fritsche LG , Graham SE , Wolford BN , Overton W , Rasheed H , Haug EB , Gabrielsen ME , Skogholt AH , Surakka I , Davey Smith G , Pandit A , Roychowdhury T , Hornsby WE , Jonasson JG , Senter L , Liyanarachchi S , Ringel MD , Xu L , Kiemeney LA , He H , Netea-Maier RT , Mayordomo JI , Plantinga TS , Hrafnkelsson J , Hjartarson H , Sturgis EM , Palotie A , Daly M , Citterio CE , Arvan P , Brummett CM , Boehnke M , de la Chapelle A , Stefansson K , Hveem K , Willer CJ , Åsvold BO
Published On :2020 Aug 7
Journal Article


Korean Genome Project: 1094 Korean personal genomes with clinical information.

Authors :Jeon S , Bhak Y , Choi Y , Jeon Y , Kim S , Jang J , Jang J , Blazyte A , Kim C , Kim Y , Shim J , Kim N , Kim YJ , Park SG , Kim J , Cho YS , Park Y , Kim HM , Kim BC , Park NH , Shin ES , Kim BC , Bolser D , Manica A , Edwards JS , Church G , Lee S , Bhak J
Published On :2020 May
Journal Article



The Intermucosal Connection between the Mouth and Gut in Commensal Pathobiont-Driven Colitis.

Authors :Kitamoto S , Nagao-Kitamoto H , Jiao Y , Gillilland MG 3rd , Hayashi A , Imai J , Sugihara K , Miyoshi M , Brazil JC , Kuffa P , Hill BD , Rizvi SM , Wen F , Bishu S , Inohara N , Eaton KA , Nusrat A , Lei YL , Giannobile WV , Kamada N
Published On :2020 Jul 23
Journal Article


The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation.

Authors :Mealer RG , Jenkins BG , Chen CY , Daly MJ , Ge T , Lehoux S , Marquardt T , Palmer CD , Park JH , Parsons PJ , Sackstein R , Williams SE , Cummings RD , Scolnick EM , Smoller JW
Published On :2020 Aug 4
Journal Article


The whale shark genome reveals how genomic and physiological properties scale with body size.

Authors :Weber JA , Park SG , Luria V , Jeon S , Kim HM , Jeon Y , Bhak Y , Jun JH , Kim SW , Hong WH , Lee S , Cho YS , Karger A , Cain JW , Manica A , Kim S , Kim JH , Edwards JS , Bhak J , Church GM
Published On :2020 Aug 25
Journal Article


An Edge Based Multi-Agent Auto Communication Method for Traffic Light Control.

Authors :Wu Q , Wu J , Shen J , Yong B , Zhou Q
Published On :2020 Jul 31
Journal Article