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Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.
Kasher PR, Schertz KE, Thomas M, Jackson A, Annunziata S, Ballesta-Martinez MJ, Campeau PM, Clayton PE, Eaton JL, Granata T, Guillén-Navarro E, Hernando C, Laverriere CE, Liedén A, Villa-Marcos O, McEntagart M, Nordgren A, Pantaleoni C, Pebrel-Richard C, Sarret C, Sciacca FL, Wright R, Kerr B, Glasgow E, Banka S. Kasher PR, et al. Among authors: lieden a. Am J Hum Genet. 2016 Feb 4;98(2):363-72. doi: 10.1016/j.ajhg.2015.12.014. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833329 Free PMC article.
Partial tetrasomy 14 associated with multiple malformations.
Winberg J, Lagerstedt Robinson K, Naess K, Lesko N, Wibom R, Liedén A, Anderlid BM, Graff C, Nordenskjöld A, Nordgren A, Gustavsson P. Winberg J, et al. Among authors: lieden a. Am J Med Genet A. 2013 Jun;161A(6):1284-90. doi: 10.1002/ajmg.a.35887. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613323
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM. Verberne EA, et al. Among authors: lieden a. Genet Med. 2021 Feb;23(2):374-383. doi: 10.1038/s41436-020-00992-z. Epub 2020 Oct 20. Genet Med. 2021. PMID: 33077894 Free article.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Lindstrand A, Ek M, Kvarnung M, Anderlid BM, Björck E, Carlsten J, Eisfeldt J, Grigelioniene G, Gustavsson P, Hammarsjö A, Helgadóttir HT, Hellström-Pigg M, Kuchinskaya E, Lagerstedt-Robinson K, Levin LÅ, Lieden A, Lindelöf H, Malmgren H, Nilsson D, Svensson E, Paucar M, Sahlin E, Tesi B, Tham E, Winberg J, Winerdal M, Wincent J, Johansson Soller M, Pettersson M, Nordgren A. Lindstrand A, et al. Among authors: lieden a. Genet Med. 2022 Nov;24(11):2296-2307. doi: 10.1016/j.gim.2022.07.022. Epub 2022 Sep 6. Genet Med. 2022. PMID: 36066546 Free article.
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.
Kvarnung M, Shahsavani M, Taylan F, Moslem M, Breeuwsma N, Laan L, Schuster J, Jin Z, Nilsson D, Lieden A, Anderlid BM, Nordenskjöld M, Syk Lundberg E, Birnir B, Dahl N, Nordgren A, Lindstrand A, Falk A. Kvarnung M, et al. Among authors: lieden a. Front Genet. 2019 Sep 24;10:896. doi: 10.3389/fgene.2019.00896. eCollection 2019. Front Genet. 2019. PMID: 31608123 Free PMC article.
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand A, Eisfeldt J, Pettersson M, Carvalho CMB, Kvarnung M, Grigelioniene G, Anderlid BM, Bjerin O, Gustavsson P, Hammarsjö A, Georgii-Hemming P, Iwarsson E, Johansson-Soller M, Lagerstedt-Robinson K, Lieden A, Magnusson M, Martin M, Malmgren H, Nordenskjöld M, Norling A, Sahlin E, Stranneheim H, Tham E, Wincent J, Ygberg S, Wedell A, Wirta V, Nordgren A, Lundin J, Nilsson D. Lindstrand A, et al. Among authors: lieden a. Genome Med. 2019 Nov 7;11(1):68. doi: 10.1186/s13073-019-0675-1. Genome Med. 2019. PMID: 31694722 Free PMC article.
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.
Caubit X, Gubellini P, Andrieux J, Roubertoux PL, Metwaly M, Jacq B, Fatmi A, Had-Aissouni L, Kwan KY, Salin P, Carlier M, Liedén A, Rudd E, Shinawi M, Vincent-Delorme C, Cuisset JM, Lemaitre MP, Abderrehamane F, Duban B, Lemaitre JF, Woolf AS, Bockenhauer D, Severac D, Dubois E, Zhu Y, Sestan N, Garratt AN, Lydia Kerkerian-Le Goff, Fasano L. Caubit X, et al. Among authors: lieden a. Nat Genet. 2016 Nov;48(11):1359-1369. doi: 10.1038/ng.3681. Epub 2016 Sep 26. Nat Genet. 2016. PMID: 27668656 Free PMC article.
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.
Vergult S, Krgovic D, Loeys B, Lyonnet S, Liedén A, Anderlid BM, Sharkey F, Joss S, Mortier G, Menten B. Vergult S, et al. Among authors: lieden a. Eur J Hum Genet. 2011 Oct;19(10):1032-7. doi: 10.1038/ejhg.2011.67. Epub 2011 Apr 20. Eur J Hum Genet. 2011. PMID: 21505450 Free PMC article.
34 results