MichaelJLyonsMD

PubMed

• 2 citations
  DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
  Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A Levy, Matthew L Tedder, Raymond J Louie, Robin S Fletcher, Hannah W Moore, Anna Ch...> ;Genetics in Medicine. 2023 Jan 1
• Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.
  Deanna Fry, Daniel Groepper, Gretchen MacCarrick, Erin M Demo, Matthew J Thomas, Margaret J Wilkes, Michael J Lyons, Megan E Tucker, Catherine Steding, Julie Fleischer> ;American Journal of Medical Genetics. Part A. 2022 Jul 1
• 3 citations
  A SOX3 duplication and lumbosacral spina bifida in three generations.
  Kameryn M Butler, Timothy Fee, Barbara R DuPont, Jane H Dean, Roger E Stevenson, Michael J Lyons> ;American Journal of Medical Genetics. Part A. 2022 May 1
• 8 citations
  Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
  William Boyce Burns, Lynne M. Bird, Delphine Héron, Boris Keren, Divya Ramachandra, Isabelle Thiffault, Florencia del Viso, Shivarajan Manickavasagam Amudhavalli, Kend...> ;American Journal of Medical Genetics. Part A. 2021 May 29
• 15 citations
  Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency
  Seok-Ho Yu, Tong Wang, Kali Wiggins, Raymond J. Louie, Emilio F. Merino, Cindy Skinner, Maria B. Cassera, Kirsten Meagher, Paul Goldberg, Neggy Rismanchi, Dillon Y. Ch...> ;Genetics in Medicine. 2021 Mar 17
• Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
  Bend, E. G.,Aref-Eshghi, E.,Everman, D. B.,Rogers, R. C.,Cathey, S. S.,Prijoles, E. J.,Lyons, M. J.,Davis, H.,Clarkson, K.,Gripp, K. W.,Li, D.,Bhoj, E.,Zackai, E.,Mark...> ;Clin Epigenetics. 2019 Apr 29
• Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
  Latham, S. L.,Ehmke, N.,Reinke, PYA.,Taft, M. H.,Eicke, D.,Reindl, T.,Stenzel, W.,Lyons, M. J.,Friez, M. J.,Lee, J. A.,Hecker, R.,Frühwald, M. C.,Becker, K.,Neuhann, T...> ;Nat Commun. 2018 Nov 20
• De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
  Helbig, K. L.,Lauerer, R. J.,Bahr, J. C.,Souza, I. A.,Myers, C. T.,Uysal, B.,Schwarz, N.,Gandini, M. A.,Huang, S.,Keren, B.,Mignot, C.,Afenjar, A.,Billette de Villemeu...> ;Am. J. Hum. Genet.. 2018 Oct 23
• Transgenerational Inheritance of Familial Lipomyelomeningocele.
  Larrew, T.,Eskandari, R.,Holden, K. R.,Chen, A.,Spellicy, C. J.,Jones, J. R.,Lee, J. A.,Lyons, M. J.> ;J. Child Neurol.. 2017 Nov 14
• 15 citations
  Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum
  Katherine G. Langley, Jordan Brown, Richard J. Gerber, Janelle Fox, Michael J. Friez, Michael J. Lyons, Samantha A. Schrier Vergano> ;American Journal of Medical Genetics. Part A. 2015 Dec 1
• Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome.
  Mooneyham, K. A.,Holden, K. R.,Cathey, S.,Dwivedi, A.,Dupont, B. R.,Lyons, M. J.> ;Am. J. Med. Genet. A. 2014 Aug 16
• Acquired Microcephaly in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Because of an Interstitial 3q22.3q23 Deletion.
  Dean, S. J.,Holden, K. R.,Dwivedi, A.,Dupont, B. R.,Lyons, M. J.> ;Pediatr. Neurol.. 2014 Apr 15
• Clinical Utility of the X-chromosome Array
  Sara S Cathey, R Curtis Rogers, David B Everman, Michael J Lyons, Yuri A Zarate, Neena L Champaigne, Joseph S Geer, Roger E Stevenson, Robert A Saul, Richard J Schroer...> ;Wiley. 2013 Jan
• Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism.
  Dwivedi, A. C.,Lyons, M. J.,Kwiatkowski, K.,Bartel, F. O.,Friez, M. J.,Holden, K. R.,Fung, E. T.,DuPont, B. R.> ;Mol Cytogenet. 2014 Dec 23
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