BradAngleMD

PubMed

• Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes inclu...
  Jorge L Granadillo, Alexander P.A. Stegmann, Hui Guo, Kun Xia, Brad Angle, Kelly Bontempo, Judith D. Ranells, Patricia Newkirk, Carrie Costin, Joleen Viront, Constanze...> ;Journal of Medical Genetics. 2020 Mar 9
• Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.
  Shivarajan Manickavasagam Amudhavalli, Randi Hanson, Brad Angle, Kelly Bontempo, Karen W. Gripp> ;American Journal of Medical Genetics Part A. 2018 Jul 1
• Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
  Yuri A. Zarate, Constance Smith-Hicks, Carol L. Greene, Mary Alice Abbott, Victoria Mok Siu, Amy R.U.L. Calhoun, Arti Pandya, Chumei Li, Elizabeth A. Sellars, Julie Ka...> ;American Journal of Medical Genetics Part A. 2018 Apr 1
• 7 citations
  WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects
  Koutaro Yokote, Sirisak Chanprasert, Lin Lee, Katharina Eirich, Minoru Takemoto, Aki Watanabe, Naoko Koizumi, Davor Lessel, Takayasu Mori, Fuki M. Hisama, Paula D. Lad...> ;Human Mutation. 2017 Jan 1
• 7 citations
  Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder
  Francisca Millan, Megan T. Cho, Kyle Retterer, Kristin G. Monaghan, Renkui Bai, Patrik Vitazka, David B. Everman, Brooke T. Smith, Brad Angle, Victoria Roberts, LaDonn...> ;American Journal of Medical Genetics Part A. 2016 Jul 1
• 6 citations
  Early-life epileptic encephalopathy secondary to SZT2 pathogenic recessive variants.
  Venkatesan, C., Angle, B., Millichap, J. J.> ;Epileptic disorders : international epilepsy journal with videotape. 2016 Jun 2
• 1 citations
  A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
  David B. Beck, Megan T. Cho, Francisca Millan, Carin Yates, Mark C. Hannibal, Bridget C. O’Connor, Marwan Shinawi, Anne M. Connolly, Darrel Waggoner, Sara Halbach, Bra...> ;Neurogenetics. 2016 Apr 19
• Urinary Tract Effects of HPSE2 Mutations
  Helen M. Stuart, Neil A. Roberts, Emma Hilton, Edward A. McKenzie, Sarah B. Daly, Kristen D. Hadfield, Jeffery S Rahal, Natalie J. Gardiner, S.W.M. Tanley, Malcolm A. ...> ;Journal of The American Society of Nephrology. 2015 Apr 1
• 1 citations
  A treatable metabolic cause of encephalopathy: cobalamin C deficiency in an 8-year-old male.
  Krueger, J. M., Piantino, J., Smith, C. M., Angle, B., Venkatesan, C., Wainwright, M. S.> ;Pediatrics. 2014 Dec 17
• 1 citations
  Further delineation of the KAT6B molecular and phenotypic spectrum.
  Gannon, T., Perveen, R., Schlecht, H., Ramsden, S., Anderson, B., Kerr, B., Day, R., Banka, S., Suri, M., Berland, S., Gabbett, M. T., Ma, A., Lyonnet, S., Cormier-Dai...> ;European journal of human genetics : EJHG. 2014 Nov 27
• 12 citations
  Whole exome sequence analysis of Peters anomaly
  Eric Weh, Linda M. Reis, Hannah Happ, Alex V. Levin, Patricia G. Wheeler, Karen L. David, Erin Carney, Brad Angle, Natalie Hauser, Elena V. Semina> ;Human Genetics. 2014 Sep 3
• 1 citations
  Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
  Sylvia Stockler-Ipsiroglu, Clara D.M. van Karnebeek, Nicola Longo, G. Christoph Korenke, Saadet Mercimek-Mahmutoglu, Iris Marquart, Bruce Barshop, Christiane Grolik, A...> ;Molecular Genetics and Metabolism. 2014 Jan 1
• 12 citations
  Mouse model implicates GNB3 duplication in a childhood obesity syndrome
  Ian S. Goldlust, Karen E. Hermetz, Lisa M. Catalano, Richard Barfield, Rebecca Cozad, Grace M. Wynn, Alev Cagla Ozdemir, Karen N. Conneely, Jennifer G. Mulle, Shikha D...> ;Proceedings of the National Academy of Sciences of the United States of America. 2013 Sep 10
• 2 citations
  Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly
  Jill A. Rosenfeld, Katherine H. Kim, Brad Angle, Robin Troxell, Jerome L. Gorski, M. Westemeyer, M. Frydman, Y. Senturias, D. Earl, B. Torchia, Roger A. Schultz, Jay W...> ;Molecular Syndromology. 2013 Jan 1
• Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
  Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe, Sumit Parikh, Neil R. Friedman, Amy Goldstein, Robyn A. Filipink, Juliann Mcconnell, Brad Angle, Wendy S. Meschi...> ;The New England Journal of Medicine. 2012 Oct 3
• Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experience
  Loren D.M. Pena, Brad Angle, Barbara K. Burton, Joel Charrow> ;Genetics in Medicine. 2012 Jan 5
• Distinctive phenotype in 9 patients with deletion of chromosome 1q24‐q25
  Deepika D Cunha Burkardt, Jill A. Rosenfeld, Maria L. Helgeson, Brad Angle, Valerie Banks, Wendy E. Smith, Karen W. Gripp, Jessica Moline, Rocio Moran, Dmitriy Niyazov...> ;American Journal of Medical Genetics Part A. 2011 Jun 1
• 38 citations
  Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes
  Shawna M. Pyott, Ulrike Schwarze, Helena E. Christiansen, Melanie G. Pepin, Dru F. Leistritz, Richard Dineen, Catharine J. Harris, Barbara K. Burton, Brad Angle, Kathe...> ;Human Molecular Genetics. 2011 Apr 15
• Neuroimaging findings in children with rare or novel de novo chromosomal anomalies.
  Leon G. Epstein, Ali Jalali, Ajit Chary, Sophia Khan, Joshua Ross, Justine Coppinger, Katrin M. Carlson, Joel Charrow, Barbara K. Burton, Donald Zimmerman, John Curran...> ;Birth Defects Research Part A-clinical and Molecular Teratology. 2008 Apr 1
• 2 citations
  Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II.
  Brad Angle, Barbara K. Burton> ;Molecular Genetics and Metabolism. 2008 Jan 1
• Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency
  Devin Oglesbee, Miao He, Nilanjana Majumder, Jerry Vockley, Ayesha Ahmad, Brad Angle, Barbara K. Burton, Joel Charrow, Regina Ensenauer, Can Ficicioglu, Laura Davis Ke...> ;Genetics in Medicine. 2007 Feb 1
• 1 citations
  Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome.
  Angle, B., Yen, F., Hersh, J. H., Gowans, G. C.> ;American journal of medical genetics. Part A. 2003 Jan 11
• Partial duplication 4q and deletion 1p36 in monozygotic twins with discordant phenotypes.
  Angle, B., Yen, F., Hersh, J. H., Gowans, G. C., Barch, M.> ;American journal of medical genetics. 2002 Sep 5
• 1 citations
  Developmental field defects: Coming together of associations and sequences during blastogenesis
  Joseph H. Hersh, Brad Angle, Terry L. Fox, Rolf F. Barth, Robert W. Bendon, Gordon C. Gowans> ;American Journal of Medical Genetics. 2002 Jul 15
• Case of partial duplication 2q3 with characteristic phenotype: rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion.
  Angle, B., Hersh, J. H., Yen, F., Christensen, K. M.> ;American journal of medical genetics. 2000 Apr 5
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