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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 2
2008 4
2009 3
2010 5
2011 3
2012 2
2013 2
2014 2
2015 6
2016 6
2017 13
2018 10
2019 15
2020 13
2021 26
2022 27
2023 40
2024 11

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170 results

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Page 1
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Am J Hum Genet. 2024 Feb 16:S0002-9297(24)00033-8. doi: 10.1016/j.ajhg.2024.02.001. Online ahead of print. Am J Hum Genet. 2024. PMID: 38387458
Longitudinal patterns and predictors of response to standard-of-care therapy in lupus nephritis: data from the Accelerating Medicines Partnership Lupus Network.
Izmirly PM, Kim MY, Carlucci PM, Preisinger K, Cohen BZ, Deonaraine K, Zaminski D, Dall'Era M, Kalunian K, Fava A, Belmont HM, Wu M, Putterman C, Anolik J, Barnas JL, Diamond B, Davidson A, Wofsy D, Kamen D, James JA, Guthridge JM, Apruzzese W, Rao DA, Weisman MH; Accelerating Medicines Partnership in RA/SLE Network; Petri M, Buyon J, Furie R. Izmirly PM, et al. Among authors: rao da. Arthritis Res Ther. 2024 Feb 20;26(1):54. doi: 10.1186/s13075-024-03275-z. Arthritis Res Ther. 2024. PMID: 38378664 Free PMC article.
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
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. Donkervoort S, et al. Ann Clin Transl Neurol. 2024 Feb 4. doi: 10.1002/acn3.51983. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38311799 Free article.
Blood immunophenotyping identifies distinct kidney histopathology and outcomes in patients with lupus nephritis.
Horisberger A, Griffith A, Keegan J, Arazi A, Pulford J, Murzin E, Howard K, Hancock B, Fava A, Sasaki T, Ghosh T, Inamo J, Beuschel R, Cao Y, Preisinger K, Gutierrez-Arcelus M, Eisenhaure TM, Guthridge J, Hoover PJ, Dall'Era M, Wofsy D, Kamen DL, Kalunian KC, Furie R, Belmont M, Izmirly P, Clancy R, Hildeman D, Woodle ES, Apruzzese W, McMahon MA, Grossman J, Barnas JL, Payan-Schober F, Ishimori M, Weisman M, Kretzler M, Berthier CC, Hodgin JB, Demeke DS, Putterman C; Accelerating Medicines Partnership: RA/SLE Network; Brenner MB, Anolik JH, Raychaudhuri S, Hacohen N, James JA, Davidson A, Petri MA, Buyon JP, Diamond B, Zhang F, Lederer JA, Rao DA. Horisberger A, et al. Among authors: rao da. bioRxiv [Preprint]. 2024 Jan 15:2024.01.14.575609. doi: 10.1101/2024.01.14.575609. bioRxiv. 2024. PMID: 38293222 Free PMC article. Preprint.
Urine proteomic signatures of histological class, activity, chronicity, and treatment response in lupus nephritis.
Fava A, Buyon J, Magder L, Hodgin J, Rosenberg A, Demeke DS, Rao DA, Arazi A, Celia AI, Putterman C, Anolik JH, Barnas J, Dall'Era M, Wofsy D, Furie R, Kamen D, Kalunian K, James JA, Guthridge J, Atta MG, Monroy Trujillo J, Fine D, Clancy R, Belmont HM, Izmirly P, Apruzzese W, Goldman D, Berthier CC, Hoover P, Hacohen N, Raychaudhuri S, Davidson A, Diamond B; Accelerating Medicines Partnership in RA/SLE network; Petri M. Fava A, et al. Among authors: rao da. JCI Insight. 2024 Jan 23;9(2):e172569. doi: 10.1172/jci.insight.172569. JCI Insight. 2024. PMID: 38258904 Free article.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004. Am J Hum Genet. 2024. PMID: 38181735
Immunomodulator use, risk factors and management of flares, and mortality for patients with pre-existing rheumatoid arthritis after immune checkpoint inhibitors for cancer.
McCarter KR, Arabelovic S, Wang X, Wolfgang T, Yoshida K, Qian G, Kowalski EN, Vanni KMM, LeBoeuf NR, Buchbinder EI, Gedmintas L, MacFarlane LA, Rao DA, Shadick NA, Gravallese EM, Sparks JA. McCarter KR, et al. Among authors: rao da. Semin Arthritis Rheum. 2024 Feb;64:152335. doi: 10.1016/j.semarthrit.2023.152335. Epub 2023 Dec 8. Semin Arthritis Rheum. 2024. PMID: 38100899
Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution.
Kang JB, Shen AZ, Gurajala S, Nathan A, Rumker L, Aguiar VRC, Valencia C, Lagattuta KA, Zhang F, Jonsson AH, Yazar S, Alquicira-Hernandez J, Khalili H, Ananthakrishnan AN, Jagadeesh K, Dey K; Accelerating Medicines Partnership Program: Rheumatoid Arthritis and Systemic Lupus Erythematosus (AMP RA/SLE) Network; Daly MJ, Xavier RJ, Donlin LT, Anolik JH, Powell JE, Rao DA, Brenner MB, Gutierrez-Arcelus M, Luo Y, Sakaue S, Raychaudhuri S. Kang JB, et al. Among authors: rao da. Nat Genet. 2023 Dec;55(12):2255-2268. doi: 10.1038/s41588-023-01586-6. Epub 2023 Nov 30. Nat Genet. 2023. PMID: 38036787 Free PMC article.
170 results