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

Year Number of Results
2005 1
2006 2
2007 1
2008 1
2010 1
2011 5
2012 4
2013 3
2014 2
2015 2
2016 4
2017 3
2018 2
2019 3
2020 4
2021 4
2022 3
2023 4
2024 2

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43 results

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Page 1
Cerebral organoids model human brain development and microcephaly.
Lancaster MA, Renner M, Martin CA, Wenzel D, Bicknell LS, Hurles ME, Homfray T, Penninger JM, Jackson AP, Knoblich JA. Lancaster MA, et al. Among authors: bicknell ls. Nature. 2013 Sep 19;501(7467):373-9. doi: 10.1038/nature12517. Epub 2013 Aug 28. Nature. 2013. PMID: 23995685 Free PMC article.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Tessadori F, Duran K, Knapp K, Fellner M; Deciphering Developmental Disorders Study; Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O'Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, Saenz MS, Thiffault I, Del Viso F, Devine P, Rego S, Tenney J, van Haeringen A, Ruivenkamp CAL, Koene S, Robertson SP, Deshpande C, Pfundt R, Verbeek N, van de Kamp JM, Weiss JMM, Ruiz A, Gabau E, Banne E, Pepler A, Bottani A, Laurent S, Guipponi M, Bijlsma E, Bruel AL, Sorlin A, Willis M, Powis Z, Smol T, Vincent-Delorme C, Baralle D, Colin E, Revencu N, Calpena E, Wilkie AOM, Chopra M, Cormier-Daire V, Keren B, Afenjar A, Niceta M, Terracciano A, Specchio N, Tartaglia M, Rio M, Barcia G, Rondeau S, Colson C, Bakkers J, Mace PD, Bicknell LS, van Haaften G. Tessadori F, et al. Among authors: bicknell ls. Am J Hum Genet. 2022 Apr 7;109(4):750-758. doi: 10.1016/j.ajhg.2022.02.003. Epub 2022 Feb 23. Am J Hum Genet. 2022. PMID: 35202563 Free PMC article.
Histones: coming of age in Mendelian genetic disorders.
Knapp K, Naik N, Ray S, van Haaften G, Bicknell LS. Knapp K, et al. Among authors: bicknell ls. J Med Genet. 2023 Mar;60(3):213-222. doi: 10.1136/jmg-2022-109085. Epub 2023 Jan 23. J Med Genet. 2023. PMID: 36690428 Review.
The molecular genetics of nELAVL in brain development and disease.
Mulligan MR, Bicknell LS. Mulligan MR, et al. Among authors: bicknell ls. Eur J Hum Genet. 2023 Nov;31(11):1209-1217. doi: 10.1038/s41431-023-01456-z. Epub 2023 Sep 12. Eur J Hum Genet. 2023. PMID: 37697079 Free PMC article. Review.
Biallelic variants in DNA2 cause microcephalic primordial dwarfism.
Tarnauskaitė Ž, Bicknell LS, Marsh JA, Murray JE, Parry DA, Logan CV, Bober MB, de Silva DC, Duker AL, Sillence D, Wise C, Jackson AP, Murina O, Reijns MAM. Tarnauskaitė Ž, et al. Among authors: bicknell ls. Hum Mutat. 2019 Aug;40(8):1063-1070. doi: 10.1002/humu.23776. Epub 2019 Jun 23. Hum Mutat. 2019. PMID: 31045292 Free PMC article.
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium; Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP. Logan CV, et al. Among authors: bicknell ls. Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503519 Free PMC article.
A second hotspot for pathogenic exon-skipping variants in CDC45.
Schoch K, Ruegg MSG, Fellows BJ, Cao J, Uhrig S, Einsele-Scholz S, Biskup S, Hawarden SRA, Salpietro V, Capra V; Undiagnosed Diseases Network; Brown CM, Accogli A, Shashi V, Bicknell LS. Schoch K, et al. Among authors: bicknell ls. Eur J Hum Genet. 2024 Mar 11. doi: 10.1038/s41431-024-01583-1. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38467731
43 results