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

Year Number of Results
1993 1
1995 1
1996 6
1997 4
1998 1
2000 3
2001 1
2003 1
2004 2
2005 2
2006 5
2007 4
2008 6
2009 9
2010 6
2011 13
2012 6
2013 6
2014 10
2015 6
2016 3
2017 4
2018 8
2019 3
2020 9
2021 13
2022 11
2023 12
2024 11
2025 15

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167 results

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Page 1
Adolescent idiopathic scoliosis.
Cheng JC, Castelein RM, Chu WC, Danielsson AJ, Dobbs MB, Grivas TB, Gurnett CA, Luk KD, Moreau A, Newton PO, Stokes IA, Weinstein SL, Burwell RG. Cheng JC, et al. Among authors: gurnett ca. Nat Rev Dis Primers. 2015 Sep 24;1:15030. doi: 10.1038/nrdp.2015.30. Nat Rev Dis Primers. 2015. PMID: 27188385 Review.
Diverse monogenic subforms of human spermatogenic failure.
Nagirnaja L, Lopes AM, Charng WL, Miller B, Stakaitis R, Golubickaite I, Stendahl A, Luan T, Friedrich C, Mahyari E, Fadial E, Kasak L, Vigh-Conrad K, Oud MS, Xavier MJ, Cheers SR, James ER, Guo J, Jenkins TG, Riera-Escamilla A, Barros A, Carvalho F, Fernandes S, Gonçalves J, Gurnett CA, Jørgensen N, Jezek D, Jungheim ES, Kliesch S, McLachlan RI, Omurtag KR, Pilatz A, Sandlow JI, Smith J, Eisenberg ML, Hotaling JM, Jarvi KA, Punab M, Rajpert-De Meyts E, Carrell DT, Krausz C, Laan M, O'Bryan MK, Schlegel PN, Tüttelmann F, Veltman JA, Almstrup K, Aston KI, Conrad DF. Nagirnaja L, et al. Among authors: gurnett ca. Nat Commun. 2022 Dec 26;13(1):7953. doi: 10.1038/s41467-022-35661-z. Nat Commun. 2022. PMID: 36572685 Free PMC article.
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD Jr, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA Jr, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S; Focal Cortical Dysplasia Neurogenetics Consortium; Brain Somatic Mosaicism Network; Gleeson JG. Chung C, et al. Among authors: gurnett ca. Nat Genet. 2023 Feb;55(2):209-220. doi: 10.1038/s41588-022-01276-9. Epub 2023 Jan 12. Nat Genet. 2023. PMID: 36635388 Free PMC article.
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K. Oppermann H, et al. Among authors: gurnett ca. Eur J Hum Genet. 2023 Nov;31(11):1251-1260. doi: 10.1038/s41431-023-01445-2. Epub 2023 Aug 30. Eur J Hum Genet. 2023. PMID: 37644171 Free PMC article.
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E, Cottrell CE, Davidson NO, Gurnett CA, Heusel JW, Stitziel NO, Chen LS, Hartz S, Nagarajan R, Saccone NL, Bierut LJ. Olfson E, et al. Among authors: gurnett ca. PLoS One. 2015 Sep 2;10(9):e0135193. doi: 10.1371/journal.pone.0135193. eCollection 2015. PLoS One. 2015. PMID: 26332594 Free PMC article.
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Zerafati-Jahromi G, Oxman E, Hoang HD, Charng WL, Kotla T, Yuan W, Ishibashi K, Sebaoui S, Luedtke K, Winrow B, Ganetzky RD, Ruiz A, Manso-Basúz C, Spataro N, Kannu P, Athey T, Peroutka C, Barnes C, Sidlow R, Anadiotis G, Magnussen K, Valenzuela I, Moles-Fernandez A, Berger S, Grant CL, Vilain E, Arnadottir GA, Sulem P, Sulem TS, Stefansson K, Massey S, Ginn N, Poduri A, D'Gama AM, Valentine R, Trowbridge SK, Murali CN, Franciskovich R, Tran Y, Webb BD, Keppler-Noreuil KM, Hall AL, McGivern B, Monaghan KG, Guillen Sacoto MJ, Baldridge D, Silverman GA, Dahiya S, Turner TN, Schedl T, Corbin JG, Pak SC, Zohn IE, Gurnett CA. Zerafati-Jahromi G, et al. Among authors: gurnett ca. Am J Hum Genet. 2025 Mar 6;112(3):537-553. doi: 10.1016/j.ajhg.2025.01.001. Epub 2025 Jan 28. Am J Hum Genet. 2025. PMID: 39879987 Free PMC article.
Genetics of clubfoot.
Dobbs MB, Gurnett CA. Dobbs MB, et al. Among authors: gurnett ca. J Pediatr Orthop B. 2012 Jan;21(1):7-9. doi: 10.1097/BPB.0b013e328349927c. J Pediatr Orthop B. 2012. PMID: 21817922 Free PMC article. Review.
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B. Rebello D, et al. Among authors: gurnett ca. Hum Mol Genet. 2023 Sep 16;32(19):2913-2928. doi: 10.1093/hmg/ddad117. Hum Mol Genet. 2023. PMID: 37462524 Free PMC article.
Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders.
Srivastava S, Cole JJ, Cohen JS, Chopra M, Smith HS, Deardorff MA, Pedapati E, Corner B, Anixt JS, Jeste S, Sahin M, Gurnett CA, Campbell CA; Intellectual and Developmental Disabilities Research Center (IDDRC) Workgroup on Advocating for Access to Genomic Testing. Srivastava S, et al. Among authors: gurnett ca. Ann Neurol. 2024 Nov;96(5):900-913. doi: 10.1002/ana.27045. Epub 2024 Sep 25. Ann Neurol. 2024. PMID: 39319594 Review.
The Brain Gene Registry: a data snapshot.
Baldridge D, Kaster L, Sancimino C, Srivastava S, Molholm S, Gupta A, Oh I, Lanzotti V, Grewal D, Riggs ER, Savatt JM, Hauck R, Sveden A; Brain Gene Registry Consortium; Constantino JN, Piven J, Gurnett CA, Chopra M, Hazlett H, Payne PRO. Baldridge D, et al. Among authors: gurnett ca. J Neurodev Disord. 2024 Apr 17;16(1):17. doi: 10.1186/s11689-024-09530-3. J Neurodev Disord. 2024. PMID: 38632549 Free PMC article.
167 results