Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2009 1
2010 1
2011 2
2012 1
2013 1
2014 2
2015 4
2017 5
2018 3
2019 6
2020 3
2021 1
2022 6
2023 6
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

37 results

Results by year

Filters applied: . Clear all
Page 1
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: bachmann gagescu r. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941. medRxiv. 2023. PMID: 37398376 Free PMC article. Preprint.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Hiatt SM, et al. Among authors: bachmann gagescu r. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. Am J Hum Genet. 2023. PMID: 36586412 Free PMC article.
The photoreceptor cilium and its diseases.
Bachmann-Gagescu R, Neuhauss SC. Bachmann-Gagescu R, et al. Curr Opin Genet Dev. 2019 Jun;56:22-33. doi: 10.1016/j.gde.2019.05.004. Epub 2019 Jun 28. Curr Opin Genet Dev. 2019. PMID: 31260874 Review.
Mortality in Joubert syndrome.
Dempsey JC, Phelps IG, Bachmann-Gagescu R, Glass IA, Tully HM, Doherty D. Dempsey JC, et al. Among authors: bachmann gagescu r. Am J Med Genet A. 2017 May;173(5):1237-1242. doi: 10.1002/ajmg.a.38158. Epub 2017 Mar 28. Am J Med Genet A. 2017. PMID: 28371402
Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.
Asadollahi R, Delvendahl I, Muff R, Tan G, Rodríguez DG, Turan S, Russo M, Oneda B, Joset P, Boonsawat P, Masood R, Mocera M, Ivanovski I, Baumer A, Bachmann-Gagescu R, Schlapbach R, Rehrauer H, Steindl K, Begemann A, Reis A, Winkler J, Winner B, Müller M, Rauch A. Asadollahi R, et al. Among authors: bachmann gagescu r. Hum Mol Genet. 2023 Jun 19;32(13):2192-2204. doi: 10.1093/hmg/ddad048. Hum Mol Genet. 2023. PMID: 37010102 Free PMC article.
Control of meiotic chromosomal bouquet and germ cell morphogenesis by the zygotene cilium.
Mytlis A, Kumar V, Qiu T, Deis R, Hart N, Levy K, Masek M, Shawahny A, Ahmad A, Eitan H, Nather F, Adar-Levor S, Birnbaum RY, Elia N, Bachmann-Gagescu R, Roy S, Elkouby YM. Mytlis A, et al. Among authors: bachmann gagescu r. Science. 2022 Jun 17;376(6599):eabh3104. doi: 10.1126/science.abh3104. Epub 2022 Jun 17. Science. 2022. PMID: 35549308 Free article.
37 results