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Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data.
Am J Med Genet A. 2024 May;194(5):e63505. doi: 10.1002/ajmg.a.63505. Epub 2024 Jan 2.
Am J Med Genet A. 2024.
PMID: 38168469
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
Garnier N, Berghout J, Zygmunt A, Singh D, Huang KA, Kantz W, Blankart CR, Gillner S, Zhao J, Roettger R, Saier C, Kirschner J, Schenk J, Atkins L, Ryan N, Zarakowska K, Zschüntzsch J, Zuccolo M, Müllenborn M, Man YS, Goodman L, Trad M, Chalandon AS, Sansen S, Martinez-Fresno M, Badger S, Walther van Olden R, Rothmann R, Lehner P, Tschohl C, Baillon L, Gumus G, Gross E, Stefanov R, Iskrov G, Raycheva R, Kostadinov K, Mitova E, Einhorn M, Einhorn Y, Schepers J, Hübner M, Alves F, Iskandar R, Mayer R, Renieri A, Piperkova A, Gut I, Beltran S, Matthiesen ME, Poetz M, Hansson M, Trollmann R, Agolini E, Ottombrino S, Novelli A, Bertini E, Selvatici R, Farnè M, Fortunato F, Ferlini A.
Garnier N, et al. Among authors: einhorn y.
PLoS One. 2023 Nov 22;18(11):e0293503. doi: 10.1371/journal.pone.0293503. eCollection 2023.
PLoS One. 2023.
PMID: 37992053
Free PMC article.
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Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project.
Ferlini A, Gross ES, Garnier N; Screen4Care consortium.
Ferlini A, et al.
Orphanet J Rare Dis. 2023 Oct 4;18(1):310. doi: 10.1186/s13023-023-02916-x.
Orphanet J Rare Dis. 2023.
PMID: 37794437
Free PMC article.
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Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.
Einhorn Y, Einhorn M, Kurolap A, Steinberg D, Mory A, Bazak L, Paperna T, Grinshpun-Cohen J, Basel-Salmon L, Weiss K, Singer A, Yaron Y, Baris Feldman H.
Einhorn Y, et al.
Hum Genomics. 2023 Mar 28;17(1):30. doi: 10.1186/s40246-023-00472-w.
Hum Genomics. 2023.
PMID: 36978159
Free PMC article.
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The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
DiStefano MT, Goehringer S, Babb L, Alkuraya FS, Amberger J, Amin M, Austin-Tse C, Balzotti M, Berg JS, Birney E, Bocchini C, Bruford EA, Coffey AJ, Collins H, Cunningham F, Daugherty LC, Einhorn Y, Firth HV, Fitzpatrick DR, Foulger RE, Goldstein J, Hamosh A, Hurles MR, Leigh SE, Leong IUS, Maddirevula S, Martin CL, McDonagh EM, Olry A, Puzriakova A, Radtke K, Ramos EM, Rath A, Riggs ER, Roberts AM, Rodwell C, Snow C, Stark Z, Tahiliani J, Tweedie S, Ware JS, Weller P, Williams E, Wright CF, Yates TM, Rehm HL.
DiStefano MT, et al. Among authors: einhorn y.
Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
Genet Med. 2022.
PMID: 35507016
Free PMC article.
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Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Rodrigues EDS, Griffith S, Martin R, Antonescu C, Posey JE, Coban-Akdemir Z, Jhangiani SN, Doheny KF, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Sheffer A, Chong JX, Einhorn Y, Cupak M, Sobreira N.
Rodrigues EDS, et al. Among authors: einhorn y.
Hum Mutat. 2022 Jun;43(6):782-790. doi: 10.1002/humu.24359. Epub 2022 Mar 21.
Hum Mutat. 2022.
PMID: 35191117
Free PMC article.
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Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Guemez-Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki MS, Saleem SN, Musaev D, McEvoy-Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson-Omay EZ, Yasuno K, Bilguvar K, Heimer G, Pillar N, Shomron N, Weissglas-Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben-Zeev B, Gunel M, Gleeson JG.
Guemez-Gamboa A, et al. Among authors: einhorn y.
Ann Neurol. 2018 Nov;84(5):638-647. doi: 10.1002/ana.25327. Epub 2018 Oct 4.
Ann Neurol. 2018.
PMID: 30178464
Free PMC article.
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Differential analysis of mutations in the Jewish population and their implications for diseases.
Einhorn Y, Weissglas-Volkov D, Carmi S, Ostrer H, Friedman E, Shomron N.
Einhorn Y, et al.
Genet Res (Camb). 2017 May 15;99:e3. doi: 10.1017/S0016672317000015.
Genet Res (Camb). 2017.
PMID: 28502252
Free PMC article.
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