{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["20(12)"],"submitter":["Cogal AG"],"funding":["NCATS NIH HHS","NIDDK NIH HHS","Rare Kidney Stone Consortium"],"journal":["Clinical journal of the American Society of Nephrology : CJASN"],"pagination":["1670-1682"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12590417"],"repository":["biostudies-literature"],"pubmed_title":["Genetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease."],"pmcid":["PMC12590417"],"funding_grant_id":["U54DK83908","R01 DK133171","R01DK133171","R21TR003174","R21 TR003174","U54 DK083908"],"pubmed_authors":["Pearl R","Campagna J","Wilson R","Kennedy GN","Armstrong L","Boumitri M","Ali AE","Lewis JB","Lane J","Kennel K","Shafi ST","Gole E","Manohar S","Gutierrez J","Elfering S","Verghese P","James M","Eidman K","Jalbani I","Grewal M","Patel H","Copelovitch L","Pinsk M","Langone A","Liss Y","Samm B","O'Hare A","Thomas-Mathew S","Kusumi K","Pfau A","Couser S","Moe S","Slocombe K","Petras K","Gutierrez B","Matteen M","Tebben P","Schlesinger M","Beck A","Stahl J","Aigbe M","Lasic LB","Cadnapaphornchai M","Zand L","Eison M","Hogan M","Portale A","Sirota H","Kompotiatis P","Lieske JC","Kim E","Akber A","Lee M","Auron A","Winnicki E","Alegria-Torres G","Torres V","Bleyer A","Al-Uzri A","Siomou E","Rossler KJ","George T","Dalal V","Pearle M","Cheng C","Reynolds LM","Neu A","Tran C","Turman M","Bock M","Arnous MG","Matossian D","Zhou X","Larosa C","Mohtat D","Keddis M","Baker S","Slocum J","Cheungpasitporn W","Tran L","Wierenga C","Avant R","Hanna C","Lambert M","Chebib F","Tanzer M","Baum M","Investigators of the Rare Kidney Stone Consortium","Khatri M","Milliner DS","Almardini R","Segal Y","Shin H","Mian A","Radhakrishnan Y","Muff-Luett M","Kalinsky B","Assimos D","Wang X","Lingeman J","Arroyo J","Prochnau C","Alhadi A","Sinnakirouchenan R","Sharma S","Wasserstein A","Trivedi H","Jernigan S","Abroug S","Weiss A","Kaminski A","Harris PC","Juran P","Dines G","Sharma J","Rule A","Krambeck A","Eisner B","Harvey L","Bolton D","Seide BM","Polcari A","Heilberg IP","Mao M","Vuppali K","Printza N","Monk R","Sethna C","Haws R","Gavrilova R","Cogal AG","Zhou LT","Foreman J","Lakkis R","Biyabani SR","Straatmann C","Sengupta U","Schwartz G","Elbarougy DE","Talati J","Rims V","Coe F","Lesses J","Steinberg P","Amanzadeh J","Benoit S","Chapman E","Jackson R","Erickson S","Goldfarb DS","Blazius B","Salyer A","Sas DJ","Chamarthi G","Ruebner R","Kamath N","Puliyanda D","Kumar J","Devor K","Stricevic V","Porter I","Ghamrawi R","Rhuma N","Kohlenberg J","Lorenz E","Norby S"],"additional_accession":[]},"is_claimable":false,"name":"Genetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease.","description":null,"dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Dec","modification":"2026-06-06T14:49:24.365Z","creation":"2026-06-01T03:07:28.704Z"},"accession":"S-EPMC12590417","cross_references":{"pubmed":["40794449"],"doi":["10.2215/cjn.0000000817","10.2215/CJN.0000000817"]}}