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Items: 5

1.
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment
Isabelle Schrauwen, Imen Chakchouk, Khurram Liaqat, Abid Jan, Abdul Nasir, Shabir Hussain, Deborah A. Nickerson, Michael J. Bamshad, Asmat Ullah, Wasim Ahmad, Suzanne M. Leal
Hum Genet. Author manuscript; available in PMC 2018 Aug 16.
Published in final edited form as: Hum Genet. 2018 Jul; 137(6-7): 471–478. Published online 2018 Jul 3. doi: 10.1007/s00439-018-1899-7
PMCID:
PMC6094940
AbstractArticlePDF–764K
2.
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction
Mieke Wesdorp, Pia A. M. de Koning Gans, Margit Schraders, Jaap Oostrik, Martijn A. Huynen, Hanka Venselaar, Andy J. Beynon, Judith van Gaalen, Vitória Piai, Nicol Voermans, Michelle M. van Rossum, Bas P. Hartel, Stefan H. Lelieveld, Laurens Wiel, Berit Verbist, Liselotte J. Rotteveel, Marieke F. van Dooren, Peter Lichtner, Henricus P. M. Kunst, Ilse Feenstra, Ronald J. C. Admiraal, DOOFNL Consortium, Helger G. Yntema, Lies H. Hoefsloot, Ronald J. E. Pennings, Hannie Kremer
Hum Genet. 2018; 137(5): 389–400. Published online 2018 May 12. doi: 10.1007/s00439-018-1880-5
PMCID:
PMC5973959
AbstractArticlePDF–1.6M
3.
Functional analysis of the nuclear LIM domain interactor NLI.
L W Jurata, G N Gill
Mol Cell Biol. 1997 Oct; 17(10): 5688–5698. doi: 10.1128/mcb.17.10.5688
PMCID:
PMC232417
SummaryPDF–1.7M
4.
Whole Genome Microarray Analysis of Gene Expression in Prader–Willi Syndrome
Douglas C. Bittel, Nataliya Kibiryeva, Susan M. Sell, Theresa V. Strong, Merlin G. Butler
Am J Med Genet A. Author manuscript; available in PMC 2017 Jun 12.
Published in final edited form as: Am J Med Genet A. 2007 Mar 1; 143A(5): 430–442. doi: 10.1002/ajmg.a.31606
PMCID:
PMC5467864
AbstractArticlePDF–357K
5.
Methylation Linear Discriminant Analysis (MLDA) for identifying differentially methylated CpG islands
Wei Dai, Jens M Teodoridis, Janet Graham, Constanze Zeller, Tim HM Huang, Pearlly Yan, J Keith Vass, Robert Brown, Jim Paul
BMC Bioinformatics. 2008; 9: 337. Published online 2008 Aug 8. doi: 10.1186/1471-2105-9-337
PMCID:
PMC2529322
AbstractArticlePDF–594K

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