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Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.
Am J Respir Crit Care Med. 2024 Apr 16. doi: 10.1164/rccm.202308-1370OC. Online ahead of print.
Am J Respir Crit Care Med. 2024.
PMID: 38626355
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Dougherty GW, Mizuno K, Nöthe-Menchen T, Ikawa Y, Boldt K, Ta-Shma A, Aprea I, Minegishi K, Pang YP, Pennekamp P, Loges NT, Raidt J, Hjeij R, Wallmeier J, Mussaffi H, Perles Z, Elpeleg O, Rabert F, Shiratori H, Letteboer SJ, Horn N, Young S, Strünker T, Stumme F, Werner C, Olbrich H, Takaoka K, Ide T, Twan WK, Biebach L, Große-Onnebrink J, Klinkenbusch JA, Praveen K, Bracht DC, Höben IM, Junger K, Gützlaff J, Cindrić S, Aviram M, Kaiser T, Memari Y, Dzeja PP, Dworniczak B, Ueffing M, Roepman R, Bartscherer K, Katsanis N, Davis EE, Amirav I, Hamada H, Omran H.
Dougherty GW, et al. Among authors: bracht dc.
Nat Commun. 2020 Nov 2;11(1):5520. doi: 10.1038/s41467-020-19113-0.
Nat Commun. 2020.
PMID: 33139725
Free PMC article.
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Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.
Wallmeier J, Bracht D, Alsaif HS, Dougherty GW, Olbrich H, Cindric S, Dzietko M, Heyer C, Teig N, Thiels C, Faqeih E, Al-Hashim A, Khan S, Mogarri I, Almannai M, Al Otaibi W, Alkuraya FS, Koerner-Rettberg C, Omran H.
Wallmeier J, et al.
Am J Hum Genet. 2021 Jul 1;108(7):1318-1329. doi: 10.1016/j.ajhg.2021.05.002. Epub 2021 Jun 1.
Am J Hum Genet. 2021.
PMID: 34077761
Free PMC article.
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Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.
Biebach L, Cindrić S, Koenig J, Aprea I, Dougherty GW, Raidt J, Bracht D, Ruppel R, Schreiber J, Hjeij R, Olbrich H, Omran H.
Biebach L, et al.
Am J Respir Cell Mol Biol. 2022 Sep;67(3):409-413. doi: 10.1165/rcmb.2022-0032LE.
Am J Respir Cell Mol Biol. 2022.
PMID: 36047773
Free PMC article.
No abstract available.
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Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
Hjeij R, Aprea I, Poeta M, Nöthe-Menchen T, Bracht D, Raidt J, Honecker BI, Dougherty GW, Olbrich H, Schwartz O, Keller U, Nüsse H, Diderich KEM, Vogelberg C, Santamaria F, Omran H.
Hjeij R, et al.
Genet Med. 2023 May;25(5):100798. doi: 10.1016/j.gim.2023.100798. Epub 2023 Jan 31.
Genet Med. 2023.
PMID: 36727596
Free article.
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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P.
Dodd DO, et al.
Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26.
Science. 2024.
PMID: 38662826
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Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE, Doherty D, Strømme P, Frengen E, Bergmann C, Misceo D.
Epting D, et al.
Hum Mutat. 2020 Dec;41(12):2179-2194. doi: 10.1002/humu.24127. Epub 2020 Nov 1.
Hum Mutat. 2020.
PMID: 33131181
Free PMC article.
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