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Year Number of Results
1997 1
2011 1
2015 1
2017 1
2018 1
2019 2
2020 3
2021 2
2022 1
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13 results
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Page 1
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. Among authors: cindric s. 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.
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: cindric s. Nat Commun. 2020 Nov 2;11(1):5520. doi: 10.1038/s41467-020-19113-0. Nat Commun. 2020. PMID: 33139725 Free PMC article.
Sternotomy and crutches.
Sanders LH, Chen W, Cindric SE, Newman MA. Sanders LH, et al. Among authors: cindric se. Interact Cardiovasc Thorac Surg. 2011 Aug;13(2):237-9. doi: 10.1510/icvts.2010.258509. Epub 2011 May 4. Interact Cardiovasc Thorac Surg. 2011. PMID: 21543367
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
Ta-Shma A, Hjeij R, Perles Z, Dougherty GW, Abu Zahira I, Letteboer SJF, Antony D, Darwish A, Mans DA, Spittler S, Edelbusch C, Cindrić S, Nöthe-Menchen T, Olbrich H, Stuhlmann F, Aprea I, Pennekamp P, Loges NT, Breuer O, Shaag A, Rein AJJT, Gulec EY, Gezdirici A, Abitbul R, Elias N, Amirav I, Schmidts M, Roepman R, Elpeleg O, Omran H. Ta-Shma A, et al. Among authors: cindric s. PLoS Genet. 2018 Aug 27;14(8):e1007602. doi: 10.1371/journal.pgen.1007602. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30148830 Free PMC article.
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
Wallmeier J, Frank D, Shoemark A, Nöthe-Menchen T, Cindric S, Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T, Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW, Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmüller J, Krenz H, Wöste M, Brentrup A, Ahrens F, Vogelberg C, Morris-Rosendahl DJ, Omran H. Wallmeier J, et al. Among authors: cindric s. Am J Hum Genet. 2019 Nov 7;105(5):1030-1039. doi: 10.1016/j.ajhg.2019.09.022. Epub 2019 Oct 17. Am J Hum Genet. 2019. PMID: 31630787 Free PMC article.
13 results