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

Year Number of Results
2002 1
2003 1
2005 1
2007 2
2008 2
2009 2
2010 4
2011 4
2012 7
2013 13
2014 12
2015 13
2016 10
2017 14
2018 14
2019 10
2020 6
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96 results
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Page 1
Genetic epidemiology of neural tube defects.
Lupo PJ, Agopian AJ, Castillo H, Castillo J, Clayton GH, Dosa NP, Hopson B, Joseph DB, Rocque BG, Walker WO, Wiener JS, Mitchell LE. Lupo PJ, et al. Among authors: Wiener JS. J Pediatr Rehabil Med. 2017 Dec 11;10(3-4):189-194. doi: 10.3233/PRM-170456. J Pediatr Rehabil Med. 2017. PMID: 29125517 Review.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. Helbig KL, et al. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
Editorial Comment.
Wiener JS. Wiener JS. J Urol. 2018 Jun;199(6):1620. doi: 10.1016/j.juro.2017.11.152. Epub 2018 Mar 14. J Urol. 2018. PMID: 29550527 No abstract available.
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
Khan TN, Khan K, Sadeghpour A, Reynolds H, Perilla Y, McDonald MT, Gallentine WB, Baig SM; Task Force for Neonatal Genomics, Davis EE, Katsanis N. Khan TN, et al. Am J Hum Genet. 2019 Jan 3;104(1):94-111. doi: 10.1016/j.ajhg.2018.11.017. Am J Hum Genet. 2019. PMID: 30609410 Free PMC article.
Surgeries and Health Outcomes Among Patients With Spina Bifida.
Alabi NB, Thibadeau J, Wiener JS, Conklin MJ, Dias MS, Sawin KJ, Valdez R. Alabi NB, et al. Among authors: Wiener JS. Pediatrics. 2018 Sep;142(3):e20173730. doi: 10.1542/peds.2017-3730. Pediatrics. 2018. PMID: 30158199 Free PMC article.
Editorial Comment.
Wiener JS. Wiener JS. J Urol. 2019 Sep;202(3):615-616. doi: 10.1097/01.JU.0000574744.63514.de. Epub 2019 Aug 8. J Urol. 2019. PMID: 31237829 No abstract available.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. Helbig KL, et al. Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. Am J Hum Genet. 2019. PMID: 30849329 Free PMC article. No abstract available.
Spina Bifida Health-care Guidelines for Men's Health.
Wiener JS, Frimberger DC, Wood H. Wiener JS, et al. Urology. 2018 Jun;116:218-226. doi: 10.1016/j.urology.2018.01.005. Epub 2018 Mar 12. Urology. 2018. PMID: 29545051 Review.
A Genocentric Approach to Discovery of Mendelian Disorders.
Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Coban Akdemir ZH, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM; Task Force for Neonatal Genomics, Davis EE, Katsanis N, Sabo A, Posey JE, Yang Y, Wangler MF, Eng CM, Sutton VR, Lupski JR, Boerwinkle E, Gibbs RA. Hansen AW, et al. Am J Hum Genet. 2019 Nov 7;105(5):974-986. doi: 10.1016/j.ajhg.2019.09.027. Epub 2019 Oct 24. Am J Hum Genet. 2019. PMID: 31668702 Free PMC article.
Bladder Management and Continence Outcomes in Adults with Spina Bifida: Results from the National Spina Bifida Patient Registry, 2009 to 2015.
Wiener JS, Suson KD, Castillo J, Routh JC, Tanaka ST, Liu T, Ward EA, Thibadeau JK, Joseph DB; National Spina Bifida Patient Registry. Wiener JS, et al. J Urol. 2018 Jul;200(1):187-194. doi: 10.1016/j.juro.2018.02.3101. Epub 2018 Mar 26. J Urol. 2018. PMID: 29588216 Free PMC article.
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