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

Year Number of Results
2009 2
2010 2
2011 1
2012 2
2013 1
2014 2
2015 8
2016 2
2017 3
2018 3
2019 2
2020 2
2024 0

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28 results

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Page 1
The Genetic Basis of Hydrocephalus.
Kousi M, Katsanis N. Kousi M, et al. Annu Rev Neurosci. 2016 Jul 8;39:409-35. doi: 10.1146/annurev-neuro-070815-014023. Epub 2016 May 2. Annu Rev Neurosci. 2016. PMID: 27145913 Review.
Genetic modifiers and oligogenic inheritance.
Kousi M, Katsanis N. Kousi M, et al. Cold Spring Harb Perspect Med. 2015 Jun 1;5(6):a017145. doi: 10.1101/cshperspect.a017145. Cold Spring Harb Perspect Med. 2015. PMID: 26033081 Free PMC article. Review.
Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.
Ylikallio E, Auranen M, Mahjneh I, Lamminen A, Kousi M, Träskelin AL, Muurinen T, Löfberg M, Salmi T, Paetau A, Lehesjoki AE, Piirilä P, Kiuru-Enari S. Ylikallio E, et al. Among authors: kousi m. J Neuromuscul Dis. 2016 Nov 29;3(4):475-485. doi: 10.3233/JND-160186. J Neuromuscul Dis. 2016. PMID: 27911336
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.
Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M. Muto V, et al. Among authors: kousi mm. Neurology. 2018 Jul 24;91(4):e319-e330. doi: 10.1212/WNL.0000000000005869. Epub 2018 Jun 29. Neurology. 2018. PMID: 29959261 Free PMC article.
PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia.
Monroe TO, Garrett ME, Kousi M, Rodriguiz RM, Moon S, Bai Y, Brodar SC, Soldano KL, Savage J, Hansen TF, Muzny DM, Gibbs RA, Barak L, Sullivan PF, Ashley-Koch AE, Sawa A, Wetsel WC, Werge T, Katsanis N. Monroe TO, et al. Among authors: kousi m. Nat Commun. 2020 Nov 19;11(1):5903. doi: 10.1038/s41467-020-19637-5. Nat Commun. 2020. PMID: 33214552 Free PMC article.
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights.
Gusev A, Mancuso N, Won H, Kousi M, Finucane HK, Reshef Y, Song L, Safi A; Schizophrenia Working Group of the Psychiatric Genomics Consortium; McCarroll S, Neale BM, Ophoff RA, O'Donovan MC, Crawford GE, Geschwind DH, Katsanis N, Sullivan PF, Pasaniuc B, Price AL. Gusev A, et al. Among authors: kousi m. Nat Genet. 2018 Apr;50(4):538-548. doi: 10.1038/s41588-018-0092-1. Epub 2018 Apr 9. Nat Genet. 2018. PMID: 29632383 Free PMC article.
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.
Kousi M, Söylemez O, Ozanturk A, Mourtzi N, Akle S, Jungreis I, Muller J, Cassa CA, Brand H, Mokry JA, Wolf MY, Sadeghpour A, McFadden K, Lewis RA, Talkowski ME, Dollfus H, Kellis M, Davis EE, Sunyaev SR, Katsanis N. Kousi M, et al. Nat Genet. 2020 Nov;52(11):1145-1150. doi: 10.1038/s41588-020-0707-1. Epub 2020 Oct 12. Nat Genet. 2020. PMID: 33046855 Free PMC article.
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL, Clarkson K, Clayton-Smith J, Corning K, Jones JR, Lam WWK, Mancini GMS, Marcelis C, Mohammed S, Pfundt R, Roifman M, Cohn R, Chitayat D; Deciphering Developmental Disorders Study; Millard TH, Katsanis N, Brunner HG, Banka S. Reijnders MRF, et al. Among authors: kousi m. Am J Hum Genet. 2017 Sep 7;101(3):466-477. doi: 10.1016/j.ajhg.2017.08.007. Am J Hum Genet. 2017. PMID: 28886345 Free PMC article.
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5.
Monzon AM, Carraro M, Chiricosta L, Reggiani F, Han J, Ozturk K, Wang Y, Miller M, Bromberg Y, Capriotti E, Savojardo C, Babbi G, Martelli PL, Casadio R, Katsonis P, Lichtarge O, Carter H, Kousi M, Katsanis N, Andreoletti G, Moult J, Brenner SE, Ferrari C, Leonardi E, Tosatto SCE. Monzon AM, et al. Among authors: kousi m. Hum Mutat. 2019 Sep;40(9):1474-1485. doi: 10.1002/humu.23856. Epub 2019 Aug 17. Hum Mutat. 2019. PMID: 31260570 Free PMC article.
28 results