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

Year Number of Results
2002 3
2003 5
2004 5
2005 4
2006 6
2007 5
2008 7
2009 4
2010 6
2011 5
2012 3
2013 7
2014 9
2015 7
2016 9
2017 4
2018 5
2019 3
2020 6
2021 14
2022 8
2023 5
2024 1

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110 results

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Page 1
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Gonzales PR, Andersen EF, Brown TR, Horner VL, Horwitz J, Rehder CW, Rudy NL, Robin NH, Thorland EC, On Behalf Of The Acmg Laboratory Quality Assurance Committee. Gonzales PR, et al. Among authors: robin nh. Genet Med. 2022 Feb;24(2):255-261. doi: 10.1016/j.gim.2021.10.004. Epub 2021 Dec 3. Genet Med. 2022. PMID: 34906464 Free article.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: robin nh. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
Choose your words carefully.
Robin NH. Robin NH. Am J Med Genet A. 2021 Jul;185(7):1953. doi: 10.1002/ajmg.a.62206. Epub 2021 Apr 8. Am J Med Genet A. 2021. PMID: 33830647 No abstract available.
Editorial: Prenatal genetic testing.
Jenkins M, Seasely AR, Subramaniam A, Robin NH. Jenkins M, et al. Among authors: robin nh. Curr Opin Pediatr. 2022 Dec 1;34(6):531-532. doi: 10.1097/MOP.0000000000001175. Curr Opin Pediatr. 2022. PMID: 36321220 No abstract available.
Direct-to-consumer genetic testing.
Henegan JC Jr, Robin NH. Henegan JC Jr, et al. Among authors: robin nh. Curr Opin Pediatr. 2010 Dec;22(6):685-6. doi: 10.1097/MOP.0b013e3283402e50. Curr Opin Pediatr. 2010. PMID: 21610329 No abstract available.
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E. Patterson V, et al. Among authors: robin nh. Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631. Epub 2023 Apr 26. Sci Adv. 2023. PMID: 37126546 Free PMC article.
Radiogenomics: towards a personalized radiation oncology.
Roberson JD 2nd, Burnett OL 3rd, Robin N. Roberson JD 2nd, et al. Among authors: robin n. Curr Opin Pediatr. 2016 Dec;28(6):713-717. doi: 10.1097/MOP.0000000000000408. Curr Opin Pediatr. 2016. PMID: 27552070 Review.
Editorial: The genetics assessment of pediatric cancer.
Farmer MB, Robin NH. Farmer MB, et al. Among authors: robin nh. Curr Opin Pediatr. 2015 Dec;27(6):657-8. doi: 10.1097/MOP.0000000000000289. Curr Opin Pediatr. 2015. PMID: 26474339 No abstract available.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Among authors: robin nh. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.
110 results