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

Year Number of Results
1981 1
1986 1
1988 2
1989 1
1990 2
1991 4
1992 1
1993 4
1994 2
1995 5
1996 2
1997 3
1998 4
1999 4
2000 1
2001 3
2002 9
2003 9
2004 6
2005 7
2006 3
2007 8
2008 10
2009 16
2010 19
2011 26
2012 26
2013 27
2014 31
2015 39
2016 41
2017 43
2018 49
2019 50
2020 61
2021 52
2022 66
2023 62
2024 83
2025 96
2026 59

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821 results

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Page 1
Autonomous biomedical research with an artificial intelligence agent.
Huang K, Zhang S, Wang H, Qu Y, Lu Y, Li R, Roohani Y, Qiu L, Cao S, Li G, Zhang J, Yin D, Wierenga R, Kavi D, Liu S, She T, Marwaha S, Carter JN, Zhou X, Wheeler MT, Bernstein JA, Wang M, He P, Zhou J, Snyder MP, Cong L, Regev A, Leskovec J. Huang K, et al. Among authors: bernstein ja. Science. 2026 Jul 9:eadz4351. doi: 10.1126/science.adz4351. Online ahead of print. Science. 2026. PMID: 42424436
Therapeutic Targeting of the Bradykinin B2 Receptor in Immunological and Vascular Diseases: Insights from Kinin Biology to Clinical Outcomes.
Riedl MA, Cohn DM, Magerl M, Farkas H, Aygören-Pürsün E, Banerji A, Bernstein JA, Schmaier AH, Pardali E, Lesage A, Lu P, Newby DE. Riedl MA, et al. Among authors: bernstein ja. Clin Rev Allergy Immunol. 2026 Jul 3;69(1):56. doi: 10.1007/s12016-026-09178-y. Clin Rev Allergy Immunol. 2026. PMID: 42397484 Free PMC article. Review.
DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade.
Leon Tenorio AA, Sugio T, Cheng J, Bonner DE, Esfahani MS, Kasinathan S, Hsu JJ, Moyer A, Pimentel Vera L, Carter J, Reuter CM, Marwaha S, Balboni I; Undiagnosed Diseases Network; Wheeler MT, Bernstein JA, Alizadeh A, Gomez-Ospina N. Leon Tenorio AA, et al. Among authors: bernstein ja. ACR Open Rheumatol. 2026 Feb;8(2):e70184. doi: 10.1002/acr2.70184. ACR Open Rheumatol. 2026. PMID: 42396794 Free PMC article.
Population-scale detection of methylation outliers from long-read genome sequencing.
Jensen TD, Kaur R, Bonner DE, Nguyen J, Reuter CM; Undiagnosed Diseases Network, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Ashley EA, Bernstein JA, Wheeler MT, Montgomery SB. Jensen TD, et al. Among authors: bernstein ja. medRxiv [Preprint]. 2026 Jun 11:2026.06.09.26355279. doi: 10.64898/2026.06.09.26355279. medRxiv. 2026. PMID: 42326780 Free PMC article. Preprint.
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Matalon DR, Duker AL, Arriaga TM, Russell K, Mendez HR, Bonner DE, Harley ME, Singer-Berk M, Wojcik MH, Pais L, DiTroia S, O'Leary M, Cassini T, Ezell K, Niehaus AD, Kaplan J, Wargowski DS, Smid CJ, Longenecker ED, Rodriguez Barreto AM, Miller DE, Keefe AC, Calderwood L, Enns GM, Tekin M, Bivona SA, Vora NL, Gilmore KL, Khan TN, Davis EE, Wang AW, Khan S, Maddirevula S, AlAbdi L, Abuyousef O, Shamseldin HE, Alkhalifi S, Abdulwahab F, Alqahtani M, Alhumaidi ZA, Nadeef S, Al Hashem AM, Bakur K, Faqeih EA, Abdalla E, Clarke A, Fletcher E, Keng WT, Ousager LB, de Silva DC, Haniffa M, Mari F, Lam W, Campbell J, Homfray T, Nampoothiri S, Li C, Chaudhari BP, Truxal K; Genomics Research to Elucidate the Genetics of Rare Diseases consortium, Undiagnosed Diseases Network; Bernstein JA, Montgomery SB, Wheeler MT, Alkuraya FS, O'Donnell-Luria A, Jackson AP, Campbell IM, Ganesh VS, Robertson N, Lemire G. Matalon DR, et al. Among authors: bernstein ja. Genet Med. 2026 Jun 19:102633. doi: 10.1016/j.gim.2026.102633. Online ahead of print. Genet Med. 2026. PMID: 42322193 Free article.
Sebetralstat for on-demand treatment of hereditary angioedema: A pooled analysis of placebo-controlled clinical trials.
Aygören-Pürsün E, Cohn DM, Agmon-Levin N, Banerji A, Bernstein JA, Busse P, Cancian M, de Castro ED, Farkas H, Grivcheva-Panovska V, Hagin D, Hakl R, Honda D, Kessel A, Kinaciyan T, Ifaad, Kurowski M, Li HH, Lleonart R, Longhurst HJ, Lumry WR, Magerl M, Martinez-Saguer I, Melamed I, Psarros F, Savic S, Soteres DF, Staevska M, Stobiecki M, Wedner HJ, Zanichelli A, Hao J, Patil K, Iverson M, Owiredu-Yeboa S, Smith MD, Yea CM, Audhya PK, Riedl MA, Kiani-Alikhan S, Maurer M. Aygören-Pürsün E, et al. Among authors: bernstein ja. World Allergy Organ J. 2026 Jun 9;19(7):101401. doi: 10.1016/j.waojou.2026.101401. eCollection 2026 Jul. World Allergy Organ J. 2026. PMID: 42318595 Free PMC article.
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.
Nagaraj V, Thomas QH, Nóbrega PR, Rodriguez Gil JL, Garavatti E, Scala M, Severino M, Efthymiou S, Amaral S, Ng TC, Inder T, Gao J, Matreyek KA, Castro MAA, Kok F, Sakata MT, Lima PLGSB, Pessoa ALS, Safraou H, Bernstein JA, Nichols CG, van Haaften G, Tran Mau-Them F, Smeland MF, McClenaghan C. Nagaraj V, et al. Among authors: bernstein ja. Neurol Genet. 2026 Jun 10;12(4):e200385. doi: 10.1212/NXG.0000000000200385. eCollection 2026 Aug. Neurol Genet. 2026. PMID: 42290677 Free PMC article.
Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric Surveillance.
Ebuen M, Krishnan V, Irby K, Monsberger R, Hopkin RJ, Brand MR, Friedman N, Thom RP, Reiss AL, Algaze C, Bernstein JA, Alexander S, Cormier-Daire V, Lin AE, Bachir S. Ebuen M, et al. Among authors: bernstein ja. Am J Med Genet C Semin Med Genet. 2026 Jun 10. doi: 10.1002/ajmg.c.70011. Online ahead of print. Am J Med Genet C Semin Med Genet. 2026. PMID: 42267964
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.
Heavner BD, Wheeler MM, Bengtsson JD, Carvalho CM, Cheung WA, Conomos MP, Délot EC, DiTroia S, Ganesh VS, Gogarten SM, Grochowski CM, Jhangiani SN, King CH, LeMaster C, Marvin CT, Marwaha S, Miller DE, O'Donnell-Luria A, Pais L, Patterson K, Qi G, Richardson M, Smail C, Stilp AM, Tong CC, Ungar RA, Weisburd B, Bamshad MJ, Bernstein JA, Eichler EE, Gibbs RA, Lupski JR, May S, Montgomery SB, Pastinen T, Posey J, Rehm HL, Shojaie A, Talkowski ME, Vilain E, Wei C, Wheeler MT, Yi Q; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; GREGoR Consortium Data Standards and Analysis Working Group; Berger SI, Chong JX. Heavner BD, et al. Among authors: bernstein ja. bioRxiv [Preprint]. 2026 May 19:2026.05.15.725546. doi: 10.64898/2026.05.15.725546. bioRxiv. 2026. PMID: 42239344 Free PMC article. Preprint.
821 results