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

Year Number of Results
1955 1
1965 1
1977 1
1984 1
1986 1
1987 1
1988 2
1989 1
1990 1
1992 1
1994 1
1995 4
1997 3
1999 1
2001 3
2002 1
2005 1
2006 1
2007 2
2008 6
2009 5
2010 2
2011 7
2012 8
2013 9
2014 10
2015 8
2016 6
2017 16
2018 26
2019 12
2020 10
2021 12
2022 7
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157 results
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Page 1
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study, Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group, Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. Olson HE, et al. Among authors: nesbitt ai. Am J Hum Genet. 2018 May 3;102(5):995-1007. doi: 10.1016/j.ajhg.2018.03.005. Epub 2018 Apr 12. Am J Hum Genet. 2018. PMID: 29656858 Free PMC article.
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J. Smol T, et al. Among authors: nesbitt a. Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6. Neurogenetics. 2018. PMID: 29511999
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S. Küry S, et al. Among authors: nesbitt ai. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003. Am J Hum Genet. 2017. PMID: 29100089 Free PMC article.
Cluster headache.
Nesbitt AD, Goadsby PJ. Nesbitt AD, et al. BMJ. 2012 Apr 11;344:e2407. doi: 10.1136/bmj.e2407. BMJ. 2012. PMID: 22496300 Review. No abstract available.
Overactive bladder syndrome: Management and treatment options.
Hutchinson A, Nesbitt A, Joshi A, Clubb A, Perera M. Hutchinson A, et al. Among authors: nesbitt a. Aust J Gen Pract. 2020 Sep;49(9):593-598. doi: 10.31128/AJGP-11-19-5142. Aust J Gen Pract. 2020. PMID: 32864677 Free article.
Delayed sleep-wake phase disorder.
Nesbitt AD. Nesbitt AD. J Thorac Dis. 2018 Jan;10(Suppl 1):S103-S111. doi: 10.21037/jtd.2018.01.11. J Thorac Dis. 2018. PMID: 29445534 Free PMC article. Review.
Headache, drugs and sleep.
Nesbitt AD, Leschziner GD, Peatfield RC. Nesbitt AD, et al. Cephalalgia. 2014 Sep;34(10):756-66. doi: 10.1177/0333102414542662. Epub 2014 Jul 22. Cephalalgia. 2014. PMID: 25053748 Review.
A systematic review of the correlates of violence against sex workers.
Deering KN, Amin A, Shoveller J, Nesbitt A, Garcia-Moreno C, Duff P, Argento E, Shannon K. Deering KN, et al. Among authors: nesbitt a. Am J Public Health. 2014 May;104(5):e42-54. doi: 10.2105/AJPH.2014.301909. Epub 2014 Mar 13. Am J Public Health. 2014. PMID: 24625169 Free PMC article. Review.
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Baker SW, Murrell JR, Nesbitt AI, Pechter KB, Balciuniene J, Zhao X, Yu Z, Denenberg EH, DeChene ET, Wilkens AB, Bhoj EJ, Guan Q, Dulik MC, Conlin LK, Abou Tayoun AN, Luo M, Wu C, Cao K, Sarmady M, Bedoukian EC, Tarpinian J, Medne L, Skraban CM, Deardorff MA, Krantz ID, Krock BL, Santani AB. Baker SW, et al. Among authors: nesbitt ai. J Mol Diagn. 2019 Jan;21(1):38-48. doi: 10.1016/j.jmoldx.2018.07.008. J Mol Diagn. 2019. PMID: 30577886 Free article.
157 results