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

Year Number of Results
1998 1
2003 1
2004 1
2005 3
2006 2
2007 1
2008 1
2009 3
2010 1
2011 2
2012 2
2013 2
2014 3
2016 6
2017 8
2018 6
2019 8
2020 3
2021 9
2022 9
2023 5
2024 1

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68 results

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Page 1
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N, Mulhern MS, Kushary S, Akman CI, Heinzen EL, Yeh R, Bi W, Hanchard NA, Burrage LC, Leduc MS, Chong JSC, Bend R, Lyons MJ, Lee JA, Suwannarat P, Brilstra E, Simon M, Koopmans M, van Binsbergen E, Groepper D, Fleischer J, Nava C, Keren B, Mignot C, Mathieu S, Mancini GMS, Madan-Khetarpal S, Infante EM, Bluvstein J, Seeley A, Bachman K, Klee EW, Schultz-Rogers LE, Hasadsri L, Barnett S, Ellingson MS, Ferber MJ, Narayanan V, Ramsey K, Rauch A, Joset P, Steindl K, Sheehan T, Poduri A, Vasquez A, Ruivenkamp C, White SM, Pais L, Monaghan KG, Goldstein DB, Sands TT, Aggarwal V. Ernst ME, et al. Among authors: hanchard na. Epilepsia. 2021 Jul;62(7):e103-e109. doi: 10.1111/epi.16931. Epub 2021 May 26. Epilepsia. 2021. PMID: 34041744 Free PMC article.
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.
Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Müller MF, Yépez VA, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA; Undiagnosed Diseases Network; Lee B. Murdock DR, et al. Among authors: hanchard na. J Clin Invest. 2021 Jan 4;131(1):e141500. doi: 10.1172/JCI141500. J Clin Invest. 2021. PMID: 33001864 Free PMC article. Clinical Trial.
Editorial overview: Congenital cardiovascular disease.
Hanchard NA, Mefford HC. Hanchard NA, et al. Curr Opin Genet Dev. 2022 Dec;77:102006. doi: 10.1016/j.gde.2022.102006. Epub 2022 Nov 23. Curr Opin Genet Dev. 2022. PMID: 36434853 No abstract available.
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Meng L, et al. Among authors: hanchard na. JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4. JAMA Pediatr. 2017. PMID: 28973083 Free PMC article.
Addressing underrepresentation in genomics research through community engagement.
Lemke AA, Esplin ED, Goldenberg AJ, Gonzaga-Jauregui C, Hanchard NA, Harris-Wai J, Ideozu JE, Isasi R, Landstrom AP, Prince AER, Turbitt E, Sabatello M, Schrier Vergano SA, Taylor MRG, Yu JH, Brothers KB, Garrison NA. Lemke AA, et al. Among authors: hanchard na. Am J Hum Genet. 2022 Sep 1;109(9):1563-1571. doi: 10.1016/j.ajhg.2022.08.005. Am J Hum Genet. 2022. PMID: 36055208 Free PMC article. Review.
"Iron"ing out hemophagocytosis through PIEZO1.
Hanchard NA, Wonkam A. Hanchard NA, et al. Cell. 2021 Feb 18;184(4):856-858. doi: 10.1016/j.cell.2021.01.038. Cell. 2021. PMID: 33606984 Free PMC article.
Five Priorities of African Genomics Research: The Next Frontier.
Wonkam A, Munung NS, Dandara C, Esoh KK, Hanchard NA, Landoure G. Wonkam A, et al. Among authors: hanchard na. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:499-521. doi: 10.1146/annurev-genom-111521-102452. Epub 2022 May 16. Annu Rev Genomics Hum Genet. 2022. PMID: 35576571 Free article. Review.
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR; Undiagnosed Diseases Network; Westerfield M, De Matteis MA, Lee B. Marom R, et al. Among authors: hanchard na. Am J Hum Genet. 2021 Sep 2;108(9):1710-1724. doi: 10.1016/j.ajhg.2021.08.002. Epub 2021 Aug 26. Am J Hum Genet. 2021. PMID: 34450031 Free PMC article.
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.
Asselin L, Rivera Alvarez J, Heide S, Bonnet CS, Tilly P, Vitet H, Weber C, Bacino CA, Baranaño K, Chassevent A, Dameron A, Faivre L, Hanchard NA, Mahida S, McWalter K, Mignot C, Nava C, Rastetter A, Streff H, Thauvin-Robinet C, Weiss MM, Zapata G, Zwijnenburg PJG, Saudou F, Depienne C, Golzio C, Héron D, Godin JD. Asselin L, et al. Among authors: hanchard na. Nat Commun. 2020 May 15;11(1):2441. doi: 10.1038/s41467-020-16294-6. Nat Commun. 2020. PMID: 32415109 Free PMC article.
68 results