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Year Number of Results
1963 1
1965 1
1966 1
1967 1
1968 3
1969 3
1972 1
1973 1
1974 4
1975 5
1989 1
1990 2
1991 2
1992 2
1993 1
1996 1
1997 1
2002 3
2003 1
2004 1
2010 1
2011 1
2017 3
2018 10
2019 9
2020 16
2021 15
2022 5
2023 2
2024 1

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89 results

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Page 1
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD Jr, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA Jr, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S; Focal Cortical Dysplasia Neurogenetics Consortium; Brain Somatic Mosaicism Network; Gleeson JG. Chung C, et al. Among authors: stanley v. Nat Genet. 2023 Feb;55(2):209-220. doi: 10.1038/s41588-022-01276-9. Epub 2023 Jan 12. Nat Genet. 2023. PMID: 36635388 Free PMC article.
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB. Kour S, et al. Among authors: stanley v. Nat Commun. 2021 May 7;12(1):2558. doi: 10.1038/s41467-021-22627-w. Nat Commun. 2021. PMID: 33963192 Free PMC article.
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.
Chai G, Szenker-Ravi E, Chung C, Li Z, Wang L, Khatoo M, Marshall T, Jiang N, Yang X, McEvoy-Venneri J, Stanley V, Anzenberg P, Lang N, Wazny V, Yu J, Virshup DM, Nygaard R, Mancia F, Merdzanic R, Toralles MBP, Pitanga PML, Puri RD, Hernan R, Chung WK, Bertoli-Avella AM, Al-Sannaa N, Zaki MS, Willert K, Reversade B, Gleeson JG. Chai G, et al. Among authors: stanley v. N Engl J Med. 2021 Sep 30;385(14):1292-1301. doi: 10.1056/NEJMoa2033911. N Engl J Med. 2021. PMID: 34587386 Free PMC article.
Somatic mosaicism reveals clonal distributions of neocortical development.
Breuss MW, Yang X, Schlachetzki JCM, Antaki D, Lana AJ, Xu X, Chung C, Chai G, Stanley V, Song Q, Newmeyer TF, Nguyen A, O'Brien S, Hoeksema MA, Cao B, Nott A, McEvoy-Venneri J, Pasillas MP, Barton ST, Copeland BR, Nahas S, Van Der Kraan L, Ding Y; NIMH Brain Somatic Mosaicism Network; Glass CK, Gleeson JG. Breuss MW, et al. Among authors: stanley v. Nature. 2022 Apr;604(7907):689-696. doi: 10.1038/s41586-022-04602-7. Epub 2022 Apr 20. Nature. 2022. PMID: 35444276 Free PMC article.
Lincomycin-curare interaction.
Samuelson RJ, Giesecke AT Jr, Kallus FT, Stanley VF. Samuelson RJ, et al. Among authors: stanley vf. Anesth Analg. 1975 Jan-Feb;54(1):103-5. doi: 10.1213/00000539-197501000-00021. Anesth Analg. 1975. PMID: 1167742
Developmental and temporal characteristics of clonal sperm mosaicism.
Yang X, Breuss MW, Xu X, Antaki D, James KN, Stanley V, Ball LL, George RD, Wirth SA, Cao B, Nguyen A, McEvoy-Venneri J, Chai G, Nahas S, Van Der Kraan L, Ding Y, Sebat J, Gleeson JG. Yang X, et al. Among authors: stanley v. Cell. 2021 Sep 2;184(18):4772-4783.e15. doi: 10.1016/j.cell.2021.07.024. Epub 2021 Aug 12. Cell. 2021. PMID: 34388390 Free PMC article.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmán-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network; Schoser B, Rösler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bönnemann CG, Gleeson JG, Martini R, Janke C, Senderek J. Shashi V, et al. Among authors: stanley v. EMBO J. 2018 Dec 3;37(23):e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12. EMBO J. 2018. PMID: 30420557 Free PMC article.
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.
von Elsner L, Chai G, Schneeberger PE, Harms FL, Casar C, Qi M, Alawi M, Abdel-Salam GMH, Zaki MS, Arndt F, Yang X, Stanley V, Hempel M, Gleeson JG, Kutsche K. von Elsner L, et al. Among authors: stanley v. Brain. 2022 May 24;145(4):1551-1563. doi: 10.1093/brain/awab403. Brain. 2022. PMID: 34694367 Free PMC article.
Evidence of maternal vascular malperfusion in placentas of women with congenital heart disease.
Rodríguez-Soto AE, Pham D, Tran T, Meads M, Stanley V, Melber D, Lamale-Smith L, Zhang-Rutledge K, Rakow-Penner R, Alshawabkeh L, Parast MM, Contijoch F. Rodríguez-Soto AE, et al. Among authors: stanley v. Placenta. 2022 Jan;117:209-212. doi: 10.1016/j.placenta.2021.12.016. Epub 2021 Dec 18. Placenta. 2022. PMID: 34953287 No abstract available.
89 results