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Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration.

Authors :Seddon JM , De D , Casazza W , Cheng SY , Punzo C , Daly M , Zhou D , Coss SL , Atkinson JP , Yu CY
Published On :2023
Journal Article


Precise Engineering of Growth Factor Presentation Using Extracellular Microenvironment-Mimicking Microfluidic Microparticles.

Authors :Hasani-Sadrabadi MM , Yuan W , Ferreira LAQ , Liu Z , Shen J , Sarrión P , Sharifi F , Malek-Khatabi A , Dashtimoghadam E , Yu B , Ansari S , Moshaverinia A
Published On :2024 Mar 11
Journal Article Research Support, Non-U.S. Gov't


The influence of sleep factors and dietary habits on the disease pattern of ulcerative colitis patients with long and short disease courses - a multicentre cross-sectional analysis.

Authors :Guo M , Ruan G , Ding X , Yu Y , Tian L , Shen J , Bai X , Jiang L , Zheng W , Shu H , Zhang X , Yang H
Published On :2024 Dec
Multicenter Study Journal Article Research Support, Non-U.S. Gov't


Colossal Barocaloric Effect of Binary Fatty Acid Methyl Esters under Low Pressures near Room Temperature.

Authors :Su X , Zhang Z , Liu J , Zheng Q , Li Z , Shen J , Li B , Du J
Published On :2024 Feb 22
Journal Article


Development and evaluation of INT(2)GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome.

Authors :Isidro RA , Chittenden A , Walker M , Schwartz A , Koeller DR , Hayes CP , Unal B , Manam MD , Buehler RM , Manning DK , Sholl LM , Redston MS , Yurgelun MB , Rana HQ , Garber JE , Ghazani AA
Published On :2023
Journal Article


Poor Glycemic Control Increases Dental Risk in a Sri Lankan Population.

Authors :Steigmann L , Gunaratnam S , Giannobile WV , Van Til M , Daignault-Newton S , Herman WH , Gunaratnam N , Katulanda P , Sarma AV
Published On :2024 Jan 31
Journal Article


Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.

Authors :Wojcik MH , Lemire G , Zaki MS , Wissman M , Win W , White S , Weisburd B , Waddell LB , Verboon JM , VanNoy GE , Töpf A , Tan TY , Straub V , Stenton SL , Snow H , Singer-Berk M , Silver J , Shril S , Seaby EG , Schneider R , Sankaran VG , Sanchis-Juan A , Russell KA , Reinson K , Ravenscroft G , Pierce EA , Place EM , Pajusalu S , Pais L , Õunap K , Osei-Owusu I , Okur V , Oja KT , O'Leary M , O'Heir E , Morel C , Marchant RG , Mangilog BE , Madden JA , MacArthur D , Lovgren A , Lerner-Ellis JP , Lin J , Laing N , Hildebrandt F , Groopman E , Goodrich J , Gleeson JG , Ghaoui R , Genetti CA , Gazda HT , Ganesh VS , Ganapathy M , Gallacher L , Fu J , Evangelista E , England E , Donkervoort S , DiTroia S , Cooper ST , Chung WK , Christodoulou J , Chao KR , Cato LD , Bujakowska KM , Bryen SJ , Brand H , Bonnemann C , Beggs AH , Baxter SM , Agrawal PB , Talkowski M , Austin-Tse C , Rehm HL , O'Donnell-Luria A
Published On :2023 Aug 13
Preprint Journal Article


Direct reprogramming of non-limb fibroblasts to cells with properties of limb progenitors.

Authors :Atsuta Y , Lee C , Rodrigues AR , Colle C , Tomizawa RR , Lujan EG , Tschopp P , Galan L , Zhu M , Gorham JM , Vannier JP , Seidman CE , Seidman JG , Ros MA , Pourquié O , Tabin CJ
Published On :2024 Feb 5
Journal Article Research Support, U.S. Gov't, Non-P.H.S. Research Support, N.I.H., Extramural


Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Authors :Donkervoort S , Mohassel P , O'Leary M , Bonner DE , Hartley T , Acquaye N , Brull A , Mozaffar T , Saporta MA , Dyment DA , Sampson JB , Pajusalu S , Austin-Tse C , Hurth K , Cohen JS , McWalter K , Warman-Chardon J , Crunk A , Foley AR , Undiagnosed Diseases Network , Mammen AL , Wheeler MT , O'Donnell-Luria A , Bönnemann CG
Published On :2024 Mar
Journal Article Research Support, Non-U.S. Gov't


Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.

Authors :Agaoglu NB , Unal B , Hayes CP , Walker M , Ng OH , Doganay L , Can ND , Rana HQ , Ghazani AA
Published On :2024 Feb
Journal Article Research Support, Non-U.S. Gov't


Rapid Generation of hPSC-Derived High Endothelial Venule Organoids with In Vivo Ectopic Lymphoid Tissue Capabilities.

Authors :Wang X , Li X , Zhao J , Li Y , Shin SR , Ligresti G , Ng AHM , Bromberg JS , Church G , Lemos DR , Abdi R
Published On :2024 Apr
Journal Article


Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.

Authors :Ansari M , Faour KNW , Shimamura A , Grimes G , Kao EM , Denhoff ER , Blatnik A , Ben-Isvy D , Wang L , Helm BM , Firth H , Breman AM , Bijlsma EK , Iwata-Otsubo A , de Ravel TJL , Fusaro V , Fryer A , Nykamp K , Stühn LG , Haack TB , Korenke GC , Constantinou P , Bujakowska KM , Low KJ , Place E , Humberson J , Napier MP , Hoffman J , Juusola J , Deardorff MA , Shao W , Rockowitz S , Krantz I , Kaur M , Raible S , Dortenzio V , Kliesch S , Singer-Berk M , Groopman E , DiTroia S , Ballal S , Srivastava S , Rothfelder K , Biskup S , Rzasa J , Kerkhof J , McConkey H , Sadikovic B , Hilton S , Banka S , Tüttelmann F , Conrad DF , O'Donnell-Luria A , Talkowski ME , FitzPatrick DR , Boone PM
Published On :2024 Apr 11
Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural


RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.

Authors :Fazal S , Danzi MC , Xu I , Kobren SN , Sunyaev S , Reuter C , Marwaha S , Wheeler M , Dolzhenko E , Lucas F , Wuchty S , Tekin M , Züchner S , Aguiar-Pulido V
Published On :2024 Jan 31
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol.

Authors :Zhang Y , Dron JS , Bellows BK , Khera AV , Liu J , Balte PP , Oelsner EC , Amr SS , Lebo MS , Nagy A , Peloso GM , Natarajan P , Rotter JI , Willer C , Boerwinkle E , Ballantyne CM , Lutsey PL , Fornage M , Lloyd-Jones DM , Hou L , Psaty BM , Bis JC , Floyd JS , Vasan RS , Heard-Costa NL , Carson AP , Hall ME , Rich SS , Guo X , Kazi DS , de Ferranti SD , Moran AE
Published On :2024 Mar 1
Journal Article Research Support, N.I.H., Intramural Research Support, N.I.H., Extramural


Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.

Authors :Liu D , Billington CJ Jr , Raja N , Wong ZC , Levin MD , Resch W , Alba C , Hupalo DN , Biamino E , Bedeschi MF , Digilio MC , Squeo GM , Villa R , Parrish PCR , Knutsen RH , Osgood S , Freeman JA , Dalgard CL , Merla G , Pober BR , Mervis CB , Roberts AE , Morris CA , Osborne LR , Kozel BA
Published On :2024 Feb 6
Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural