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Year Number of Results
2008 2
2010 2
2011 2
2012 1
2014 1
2015 1
2016 3
2017 2
2018 1
2019 3
2020 3
2021 5
2022 2
2023 3
2024 3

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31 results

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Page 1
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Mensah MA, Niskanen H, Magalhaes AP, Basu S, Kircher M, Sczakiel HL, Reiter AMV, Elsner J, Meinecke P, Biskup S, Chung BHY, Dombrowsky G, Eckmann-Scholz C, Hitz MP, Hoischen A, Holterhus PM, Hülsemann W, Kahrizi K, Kalscheuer VM, Kan A, Krumbiegel M, Kurth I, Leubner J, Longardt AC, Moritz JD, Najmabadi H, Skipalova K, Snijders Blok L, Tzschach A, Wiedersberg E, Zenker M, Garcia-Cabau C, Buschow R, Salvatella X, Kraushar ML, Mundlos S, Caliebe A, Spielmann M, Horn D, Hnisz D. Mensah MA, et al. Among authors: hitz mp. Nature. 2023 Feb;614(7948):564-571. doi: 10.1038/s41586-022-05682-1. Epub 2023 Feb 8. Nature. 2023. PMID: 36755093 Free PMC article.
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T; INTERVAL Study; Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J; UK10K Consortium; Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD; Deciphering Developmental Disorders Study; Hurles ME. Sifrim A, et al. Among authors: hitz mp. Nat Genet. 2016 Sep;48(9):1060-5. doi: 10.1038/ng.3627. Epub 2016 Aug 1. Nat Genet. 2016. PMID: 27479907 Free PMC article.
Recent advances in congenital heart disease genomics.
Wilsdon A, Sifrim A, Hitz MP, Hurles M, Brook JD. Wilsdon A, et al. Among authors: hitz mp. F1000Res. 2017 Jun 12;6:869. doi: 10.12688/f1000research.10113.1. eCollection 2017. F1000Res. 2017. PMID: 28663792 Free PMC article. Review.
The omics discovery REST interface.
Dass G, Vu MT, Xu P, Audain E, Hitz MP, Grüning BA, Hermjakob H, Perez-Riverol Y. Dass G, et al. Among authors: hitz mp. Nucleic Acids Res. 2020 Jul 2;48(W1):W380-W384. doi: 10.1093/nar/gkaa326. Nucleic Acids Res. 2020. PMID: 32374843 Free PMC article.
Cardiology: Race for healthy hearts.
Hitz MP, Andelfinger G. Hitz MP, et al. Nature. 2015 Apr 9;520(7546):160-1. doi: 10.1038/nature14379. Epub 2015 Apr 1. Nature. 2015. PMID: 25830886 No abstract available.
STIGMA: Single-cell tissue-specific gene prioritization using machine learning.
Balachandran S, Prada-Medina CA, Mensah MA, Glaser J, Kakar N, Nagel I, Pozojevic J, Audain E, Hitz MP, Kircher M, Sreenivasan VKA, Spielmann M. Balachandran S, et al. Among authors: hitz mp. Am J Hum Genet. 2024 Mar 7;111(3):618. doi: 10.1016/j.ajhg.2024.01.009. Am J Hum Genet. 2024. PMID: 38458167 Free PMC article. No abstract available.
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes.
Breuer K, Riedhammer KM, Müller N, Schaidinger B, Dombrowsky G, Dittrich S, Zeidler S, Bauer UMM, Westphal DS, Meitinger T, Dakal TC, Hitz MP, Breuer J, Reutter H, Hilger AC, Hoefele J. Breuer K, et al. Among authors: hitz mp. Eur J Hum Genet. 2022 Aug;30(8):946-954. doi: 10.1038/s41431-022-01100-2. Epub 2022 Apr 26. Eur J Hum Genet. 2022. PMID: 35474353 Free PMC article.
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.
Škorić-Milosavljević D, Tadros R, Bosada FM, Tessadori F, van Weerd JH, Woudstra OI, Tjong FVY, Lahrouchi N, Bajolle F, Cordell HJ, Agopian AJ, Blue GM, Barge-Schaapveld DQCM, Gewillig M, Preuss C, Lodder EM, Barnett P, Ilgun A, Beekman L, van Duijvenboden K, Bokenkamp R, Müller-Nurasyid M; KORA-Study Group; Vliegen HW, Konings TC, van Melle JP, van Dijk APJ, van Kimmenade RRJ, Roos-Hesselink JW, Sieswerda GT, Meijboom F, Abdul-Khaliq H, Berger F, Dittrich S, Hitz MP, Moosmann J, Riede FT, Schubert S, Galan P, Lathrop M, Munter HM, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Veldink JH, van den Berg LH, Evans S, Nobrega MA, Aneas I, Radivojkov-Blagojević M, Meitinger T, Oechslin E, Mondal T, Bergin L, Smythe JF, Altamirano-Diaz L, Lougheed J, Bouma BJ, Chaix MA, Kline J, Bassett AS, Andelfinger G, van der Palen RLF, Bouvagnet P, Clur SB, Breckpot J, Kerstjens-Frederikse WS, Winlaw DS, Bauer UMM, Mital S, Goldmuntz E, Keavney B, Bonnet D, Mulder BJ, Tanck MWT, Bakkers J, Christoffels VM, Boogerd CJ, Postma AV, Bezzina CR. Škorić-Milosavljević D, et al. Among authors: hitz mp. Circ Res. 2022 Jan 21;130(2):166-180. doi: 10.1161/CIRCRESAHA.120.317107. Epub 2021 Dec 10. Circ Res. 2022. PMID: 34886679 Free PMC article.
Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.
Wünnemann F, Ta-Shma A, Preuss C, Leclerc S, van Vliet PP, Oneglia A, Thibeault M, Nordquist E, Lincoln J, Scharfenberg F, Becker-Pauly C, Hofmann P, Hoff K, Audain E, Kramer HH, Makalowski W, Nir A, Gerety SS, Hurles M, Comes J, Fournier A, Osinska H, Robins J, Pucéat M; MIBAVA Leducq Consortium principal investigators; Elpeleg O, Hitz MP, Andelfinger G. Wünnemann F, et al. Among authors: hitz mp. Nat Genet. 2020 Jan;52(1):40-47. doi: 10.1038/s41588-019-0536-2. Epub 2019 Dec 16. Nat Genet. 2020. PMID: 31844321 Free PMC article.
31 results