Livija Medne, MS, LCGC

Papers

Original papers

2012

Descipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, et al. Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization. Am J Med Genet A. 2012 Sep;158A(9):2152-61. doi: 10.1002/ajmg.a.35574. Epub 2012 Jul 27. Cited in PubMed; PMID 22847950.

Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, et al. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 33(1):165-79, 2012. Cited in PubMed; PMID 21948486.

2011

Flanigan KM, Dunn D, Larsen CA, Medne L, Bönnemann CB, Weiss RB. Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene. Muscle Nerve. 2011 Nov;44(5):822-5. doi: 10.1002/mus.22226. Cited in PubMed; PMID PMCID: PMC3404890.

Foley AR, Hu Y, Zou Y, Yang M, Medne L, Leach M, et al. Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. Ann Neurol. 2011 Jan;69(1):206-11. doi: 10.1002/ana.22283. Cited in PubMed; PMID 21280092.

2010

Ahmad Z, Zackai EH, Medne L, Garg A. Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. Am J Med Genet A. 2010 Nov;152A(11):2703-10. Cited in PubMed; PM.

Soltanzadeh P, Friez MJ, Dunn D, von Niederhauser A, Gurvich OL, Swoboda KJ, et al. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord. 2010 Aug;20(8):499-504. Epub 2010 Jul 13. Cited in PubMed; PMID PMCID:PMC2944769.

Ohye T, Inagaki H, Kogo, H, Tsutsumi M, Kato T, Tong M, et al. Paternal origin of the de novo constitutional t(11;22)(q23;q11). Eur J Hum Genet. 2010 Jul;18(7):783-7. Epub 2010 Feb 24. Cited in PubMed; PMID 20179746.

Conlin LK, Thiel B, Bönnemann CG, Medne L, Ernst LM, Zackai EH, et al. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet. 2010 Apr 1;19(7):1263-75. Epub 2010 Jan 6. Cited in PubMed; PMID 20053666.

2009

Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat. 2009 Dec;30(12):1657-66. Cited in PubMed; PMCID: PMC3404892.

Flanigan KM, Dunn DM, von Niederhausern A, Howard MT, Mendell J, Connolly A, et al. DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. Neuromuscul Disord., 19(11):743-748, 2009. Neuromuscul Disord. 2009 Nov;19(11):743-8. Epub 2009 Sep 29. Cited in PubMed; PMCID: PMC3142924.

Purandare SM, Ernst L, Medne L, Huff D, Zackai EH. Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases. Am J Med Genet A. 2009 Aug;149A(8):1740-8. Cited in PubMed; 19606475.

Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, et al. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res. 2009 Sep;19(9):1682-90. Epub 2009 Jul 10. Cited in PubMed; 19592680.

2008

Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, et al. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A. 2008 Jul 1;146A(13):1637-54. Cited in PubMed; PMCID: PMC2801020.

Nino M, Matos-Miranda C, Maeda M, Chen L, Allanson J, Armour C, et al. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. Am J Med Genet A. 2008 Apr 15;146A(8):997-1008. Cited in PubMed; 18348268.

Gurvich OL, Tuohy TM, Howard MT, Finkel RS, Medne L, Anderson CB, et al. DMD pseudoexon mutations: splicing efficiency, phenotype and potential therapy. Ann Neurol. 2008 Jan;63(1):81-9. Cited in PubMed; PMID 18059005.

2007

Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, et al. Discovery of a previously unrecognized microdeletion syndrome of 19p11.2-p12.2 Nat Genet. 2007 Sep;39(9):1071-3. Epub 2007 Aug 19. Cited in PubMed; PMID 17704777.

Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, et al. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of corpus callosum. Am J Hum Genet. 2007 Aug;81(2):292-303. Epub 2007 Jun 13. Cited in PubMed; PMID PMCID: PMC1950798.

Hoffman JD, Irons M, Schwartz CE, Medne L, Zackai EH. A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. Am J Med Genet A. 2007 Jun 15;143A(12):1282-6. Cited in PubMed; 17506099.

Gotter AL, Nimmakayalu MA, Jalali GR, Hacker AM, Vorstman J, Conforto Duffy D, et al. A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies. Genome Res. 2007 Apr;17(4):470-81. Epub 2007 Mar 9. Cited in PubMed; PMID 17351131.

Schessl J, Medne L, Hu Y, Zou Y, Brown MJ, Huse JT, et al. MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement. Neuromuscul Disord. 2007 Jan;17(1):28-32. Epub 2006 Nov 28. Cited in PubMed; 17134899.

2005

DeBerardinis RJ, Medne L, Spinner NB, Zackai EH. DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother. Am J Med Genet A. 2005 Oct 1;138A(2):155-9. Cited in PubMed; PMID 16114050.

Morrissette JJ, Medne L, Bentley T, Owens NL, Geiger E, Pipan M, et al.  A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage. Am J Med Genet A. 2005 Aug 30;137(2):208-12. Cited in PubMed; PMID 16082706.

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, et al. Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. Epub 2005 Feb 25. Cited in PubMed; PMID 16053902.

Posters and Presentations

2011

Medne L. Neuromuscular disease and arthrogryposis [presentation]. International Fetal Diagnosis and Treatment Conference; 2011 Mar; Philadelphia, PA.

2010

Medne L, Foley AR, Hu Y, Zou Y, Yang M, Leach M, et al. Use of chromosomal microarrays in the diagnosis of primary neuromuscular diseases [poster presentation]. 60th Annual Meeting of the American Society of Human Genetics; 2010 Nov 2-6; Washington, DC.

2009

Ohye T, Inagaki H, Kogo H, Tsutsumi M, Kato T, Tong M, et al. Parental origin of de novo t(11;22)(q23;q11) [poster presentation]. 59th Annual Meeting of the American Society of Human Genetics; 2009 Oct 20-24; Honolulu, HI.

2008

Medne L. Finding meaning in losses and gains: the Zen of genomic arrays [Array CGH/copy number variant workshop]. Association for Molecular Pathology 2008 Annual Meeting; 2008 Oct; Grapevine, TX.

2007

Medne L, Waldman A, Bönnemann C. PTEN gene mutation causes megalencephaly with prominent Virchow-Robin spaces without cognitive delays or autism: new PTHS phenotype [poster presentation]. American Society of Human Genetics, 57th Annual Meeting; 2007  Oct 23-27; San Diego, CA.

Braverman N, Matos C, Maeda M, Chen L, Allanson J, Armour C, et al. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata [platform presentation]. American Society of Human Genetics, 57th Annual Meeting; 2007  Oct 23-27; San Diego, CA.

Haldeman-Englert C, McDonald-McGinn DM, Geiger E, Medne L, Bönnemann C, Brigatti K, et al. Utility of microarrays in characterizing two patients with 11q deletions and clinical features of Jacobsen syndrome [poster presentation]. American Society of Human Genetics, 57th Annual Meeting; 2007  Oct 23-27; San Diego, CA.

2006

Shaikh TH, Medne L, McDonald-McGinn D, Saitta S, Bönnemann C, Zackai EH. Improved detection of genomic disorders: will denser arrays identify new syndromes? [poster presentation]. American Society of Human Genetics, 56th Annual Meeting; 2006 Oct 10-13; New Orleans, LA.

Mendoza-Londono R, Yatsenko SA, Napieral D, Medne L, Zackai EH, Armfield Uhas K, et al. Clinical and molecular characterization of patients with microdeletions of 6p21 [poster presentation].American Society of Human Genetics, 56th Annual Meeting; 2006 Oct 10-13; New Orleans, LA.

Medne L, Golden J, Finkel R, Ming J, Ciprero K, Lunardi J, et al. Classic congenital myopathies presenting with lethal neonatal phenotypes [platform presentation]. The 26th Annual David W. Smith Workshop on Malformations and Morphogenesis; 2005; Iowa City, IA, 2005.

Medne L, Golden J, Finkel R, Ming J, Ciprero K, Lunardi J, et al. Classic congenital myopathies presenting with lethal neonatal phenotypes [poster presentation]. American Society of Human Genetics, 55th Annual Meeting; 2005 Oct 26-29; Salt Lake City, UT.

Purandare S, Unanue N, Ciprero KL, Medne L, Guttneberg M, Zackai EH. Expanding the phenotypic spectrum of cerebro-costo-mandibular syndrome [poster presentation]. American Society of Human Genetics, 55th Annual Meeting; 2005 Oct 26-29; Salt Lake City, UT.

Morrissette JJD, Medne L, McDaniel R, Gupta A, Parrish B, Anderson CE, et al. Duplication 4p and autism: cytogenetic identification of a common region for autistic disorder [poster presentation]. American Society of Human Genetics, 55th Annual Meeting; 2005 Oct 26-29; Salt Lake City, UT.