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Down syndrome: national conference on patient registries, research databases, and biobanks.
Oster-Granite ML, Parisi MA, Abbeduto L, Berlin DS, Bodine C, Bynum D, Capone G, Collier E, Hall D, Kaeser L, Kaufmann P, Krischer J, Livingston M, McCabe LL, Pace J, Pfenninger K, Rasmussen SA, Reeves RH, Rubinstein Y, Sherman S, Terry SF, Whitten MS, Williams S, McCabe ER, Maddox YT. Oster-Granite ML, et al. Among authors: kaufmann p. Mol Genet Metab. 2011 Sep-Oct;104(1-2):13-22. doi: 10.1016/j.ymgme.2011.07.005. Epub 2011 Jul 13. Mol Genet Metab. 2011. PMID: 21835664 Free PMC article.
Carrier testing for spinal muscular atrophy.
Gitlin JM, Fischbeck K, Crawford TO, Cwik V, Fleischman A, Gonye K, Heine D, Hobby K, Kaufmann P, Keiles S, MacKenzie A, Musci T, Prior T, Lloyd-Puryear M, Sugarman EA, Terry SF, Urv T, Wang C, Watson M, Yaron Y, Frosst P, Howell RR. Gitlin JM, et al. Among authors: kaufmann p. Genet Med. 2010 Oct;12(10):621-2. doi: 10.1097/GIM.0b013e3181ef6079. Genet Med. 2010. PMID: 20808230 Free PMC article.
Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.
Austin CP, Cutillo CM, Lau LPL, Jonker AH, Rath A, Julkowska D, Thomson D, Terry SF, de Montleau B, Ardigò D, Hivert V, Boycott KM, Baynam G, Kaufmann P, Taruscio D, Lochmüller H, Suematsu M, Incerti C, Draghia-Akli R, Norstedt I, Wang L, Dawkins HJS; International Rare Diseases Research Consortium (IRDiRC). Austin CP, et al. Among authors: kaufmann p. Clin Transl Sci. 2018 Jan;11(1):21-27. doi: 10.1111/cts.12500. Epub 2017 Oct 23. Clin Transl Sci. 2018. PMID: 28796445 Free PMC article. Review. No abstract available.
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H. Boycott KM, et al. Among authors: kaufmann p. Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003. Am J Hum Genet. 2017. PMID: 28475856 Free PMC article.
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS. Baynam G, et al. Among authors: kaufmann p. Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Adv Exp Med Biol. 2017. PMID: 29214566 Review.
Facilitating Clinical Studies in Rare Diseases.
Gopal-Srivastava R, Kaufmann P. Gopal-Srivastava R, et al. Among authors: kaufmann p. Adv Exp Med Biol. 2017;1031:125-140. doi: 10.1007/978-3-319-67144-4_6. Adv Exp Med Biol. 2017. PMID: 29214568 Review.
A call for global action for rare diseases in Africa.
Baynam GS, Groft S, van der Westhuizen FH, Gassman SD, du Plessis K, Coles EP, Selebatso E, Selebatso M, Gaobinelwe B, Selebatso T, Joel D, Llera VA, Vorster BC, Wuebbels B, Djoudalbaye B, Austin CP, Kumuthini J, Forman J, Kaufmann P, Chipeta J, Gavhed D, Larsson A, Stojiljkovic M, Nordgren A, Roldan EJA, Taruscio D, Wong-Rieger D, Nowak K, Bilkey GA, Easteal S, Bowdin S, Reichardt JKV, Beltran S, Kosaki K, van Karnebeek CDM, Gong M, Shuyang Z, Mehrian-Shai R, Adams DR, Puri RD, Zhang F, Pachter N, Muenke M, Nellaker C, Gahl WA, Cederroth H, Broley S, Schoonen M, Boycott KM, Posada M. Baynam GS, et al. Among authors: kaufmann p. Nat Genet. 2020 Jan;52(1):21-26. doi: 10.1038/s41588-019-0552-2. Nat Genet. 2020. PMID: 31873296 No abstract available.
The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.
Lochmüller H, Torrent I Farnell J, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P, Dawkins HJ, Lasko P, Austin CP, Boycott KM; IRDiRC Consortium Assembly. Lochmüller H, et al. Among authors: kaufmann p. Eur J Hum Genet. 2017 Dec;25(12):1293-1302. doi: 10.1038/s41431-017-0008-z. Epub 2017 Nov 20. Eur J Hum Genet. 2017. PMID: 29158551 Free PMC article.
1,194 results