BradAngleMD

PubMed

• 11 citations
  Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
  Elke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, Juliet E Hampstead, Alexander J M Dingemans, Dmitrijs Rots, Lukas Lütje, Tazeen Ashraf, Rachel Baker, Mouna Barat...> ;Genetics in Medicine. 2022 Oct 1
• 14 citations
  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, C. T. R....> ;Journal of Medical Genetics. 2020 Oct 1
• 14 citations
  Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.
  Shivarajan M. Amudhavalli, Randi Hanson, Brad Angle, Kelly Bontempo, Karen W. Gripp> ;American Journal of Medical Genetics. Part A. 2018 Jul 1
• 48 citations
  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 ...> ;American Journal of Medical Genetics. Part A. 2018 Apr 1
• 63 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
• 42 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
• 24 citations
  Early-life epileptic encephalopathy secondary to SZT2 pathogenic recessive variants
  Charu Venkatesan, Brad Angle, John Millichap> ;Epileptic Disorders. 2016 Jun 1
• 27 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
• 27 citations
  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, Simon W. M. Tanley, Malcol...> ;Journal of the American Society of Nephrology. 2015 Apr 1
• 3 citations
  A Treatable Metabolic Cause of Encephalopathy: Cobalamin C Deficiency in an 8-Year-Old Male
  Jena M. Krueger, Juan Piantino, Craig M. Smith, Brad Angle, Charu Venkatesan, Mark S. Wainwright> ;Pediatrics. 2015 Jan 1
• 51 citations
  Further delineation of the KAT6B molecular and phenotypic spectrum
  Tamsin Gannon, Rahat Perveen, Helene Schlecht, Simon C Ramsden, Beverley Anderson, Bronwyn Kerr, Ruth Day, Siddharth Banka, Mohnish Suri, Siren Berland, Michael T. Gab...> ;European Journal of Human Genetics. 2015 Sep 1
• 52 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
• 86 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 A. Barshop, Christiane Grolik...> ;Molecular Genetics and Metabolism. 2014 Jan 1
• 27 citations
  Mouse model implicates GNB3 duplication in a childhood obesity syndrome
  Ian S. Goldlust, Karen Hermetz, Lisa M. Catalano, Richard Barfield, Rebecca Cozad, Grace M. Wynn, Alev Cagla Ozdemir, Karen N. Conneely, Jennifer G. Mulle, Shikha Dhar...> ;Proceedings of the National Academy of Sciences of the United States of America. 2013 Sep 10
• 35 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 5
• 396 citations
  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
• 15 citations
  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
• 83 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 Pepin, Dru F. Leistritz, Richard Dineen, Catharine J. Harris, Barbara K. Burton, Brad Angle, Katherin...> ;Human Molecular Genetics. 2011 Apr 15
• 1 citations
  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
• 44 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
• 1 citations
  A 4-month-old Girl With an Enlarged Tongue and Limb Asymmetry
  Brad Angle> ;Pediatric Annals. 2007 May 1
• A 3-day-old Infant with a Congenital Heart Defect and Hypocalcemia
  Brad Angle> ;Pediatric Annals. 2007 May 1
• An 8-month-old Boy with Cleft Palate, Microcephaly, Developmental Delay, and Syndactyly
  Brad Angle> ;Pediatric Annals. 2007 May 1
• 33 citations
  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
• 205 citations
  Fibulin-4: A novel gene for an autosomal recessive cutis laxa syndrome
  Vishwanathan Hucthagowder, Nina Sausgruber, Katherine H. Kim, Brad Angle, Lihua Y. Marmorstein, Zsolt Urban> ;American Journal of Human Genetics. 2006 Jun 1
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Journal Articles

• Further Delineation of Aymé‐Gripp Syndrome and Use of Automated Facial Analysis Tool  
  Brad Angle, Kelly Bontempo, Karen W Gripp, American Journal of Medical Genetics Part A