AnnHaskinsOlneyMD

PubMed

• 3 citations
  The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.
  Scott C. Smith, Ann Haskins Olney, Angela Beavers, Joanna Spaulding, Marilu Nelson, Shelly Nielsen, Jennifer N. Sanmann> ;American Journal of Medical Genetics. Part A. 2020 Jul 24
• 52 citations
  DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
  Clare V. Logan, Jennie E. Murray, David A. Parry, Andrea Robertson, Roberto Bellelli, Žygimantė Tarnauskaitė, Rachel C. Challis, Louise Cleal, Valerie Borel, Adeline F...> ;American Journal of Human Genetics. 2018 Dec 6
• In memory of Murray Feingold (1930-2015).
  G. Bradley Schaefer, Catherine Nowak, Ann Haskins Olney> ;American Journal of Medical Genetics. Part A. 2016 May 5
• 50 citations
  A specific mutation in TBL1XR1 causes Pierpont syndrome
  Charlotte A Heinen, Aldo Jongejan, Peter J. Watson, B. Redeker, Anita Boelen, Olga Boudzovitch-Surovtseva, Francesca Forzano, Roel Hordijk, Richard I. Kelley, Ann Hask...> ;Journal of Medical Genetics. 2016 May 1
• 26 citations
  Myhre syndrome: Clinical features and restrictive cardiopulmonary complications
  Lois J. Starr, Dorothy K. Grange, Jeffrey W. Delaney, Anji T. Yetman, James M. Hammel, Jennifer N. Sanmann, Deborah Perry, G. Bradley Schaefer, Ann Haskins Olney> ;American Journal of Medical Genetics. Part A. 2015 Dec 1
• 13 citations
  Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
  Mrinmoy Sanyal, Marie Morimoto, Alireza Baradaran-Heravi, Kunho Choi, Neeraja Kambham, Kent P. Jensen, Suparna Dutt, Kira Y. Dionis-Petersen, Lan Xiang Liu, Katie Feli...> ;Clinical Immunology. 2015 Dec 1
• 99 citations
  Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
  Karen W. Gripp, Cynthia J. Curry, Ann Haskins Olney, Claudio Sandoval, Jamie Fisher, Jessica X. Chong, Lisa Pilchman, Rebecca Sahraoui, Deborah L. Stabley, Katia Sol-C...> ;American Journal of Medical Genetics. Part A. 2014 Sep 1
• 1 citations
  Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: patient report and review of 20qter duplications.
  Lois J. Starr, Edward J. Truemper, Diane L. Pickering, Warren G. Sanger, Ann Haskins Olney> ;American Journal of Medical Genetics. Part A. 2014 Aug 1
• 6 citations
  Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication.
  Lois J. Starr, Jennifer N. Sanmann, Ann Haskins Olney, Melissa Wandoloski, Warren G. Sanger, Don W. Coulter> ;American Journal of Medical Genetics. Part A. 2014 Apr 1
• 29 citations
  Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
  Eric T. Rush, Margaret P. Adam, Robin D. Clark, Cynthia J. Curry, Julianne E. Hartmann, William B. Dobyns, Ann Haskins Olney> ;American Journal of Medical Genetics. Part A. 2013 Feb 1
• 10 citations
  Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: review of distal 7q deletions.
  Eric T. Rush, Jadd M. Stevens, Warren G. Sanger, Ann Haskins Olney> ;American Journal of Medical Genetics. Part A. 2013 Jul 1
• 29 citations
  Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.
  Nicole Reisch, Jan Idkowiak, Beverly A. Hughes, Hannah E Ivison, Omar A. Abdul-Rahman, Laura G. Hendon, Ann Haskins Olney, Shelly Nielsen, Rachel Harrison, Edward Blai...> ;The Journal of Clinical Endocrinology and Metabolism. 2013 Jan 30
• 19 citations
  Dental Abnormalities in Schimke Immuno-osseous Dysplasia
  Marie Morimoto, Olivia Kérourédan, M. Gendronneau, C. Shuen, Alireza Baradaran-Heravi, Yumi Asakura, Mitra Basiratnia, Radovan Bogdanovic, Dominique Bonneau, Anna Buck...> ;Journal of Dental Research. 2012 Jun 14
• 32 citations
  SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo
  Alireza Baradaran-Heravi, Anja Raams, Joanna M. Lubieniecka, Kyoung Sang Cho, Kristi Dehaai, Mitra Basiratnia, Pierre-Olivier Mari, Yutong Xue, Michael Rauth, Ann Hask...> ;American Journal of Medical Genetics. Part A. 2012 Sep 1
• 21 citations
  Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome
  Jennifer N. Sanmann, Danielle L. Bishay, Lois J. Starr, Carla A. Bell, Diane L. Pickering, Jadd M. Stevens, Stephen G. Kahler, Ann Haskins Olney, G. Bradley Schaefer, ...> ;American Journal of Medical Genetics. Part A. 2012 Jun 1
• 24 citations
  Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.
  Vinit B. Mahajan, Ann Haskins Olney, Penny Garrett, Ajit Chary, Ecaterina Dragan, Gary Lerner, Jeffrey C. Murray, Alexander G. Bassuk> ;American Journal of Medical Genetics. Part A. 2010 Nov 1
• 180 citations
  De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
  Dianna M. Milewicz, John R. Østergaard, Leena Ala-Kokko, Nadia Khan, Dorothy K. Grange, Roberto Mendoza-Londono, Timothy J. Bradley, Ann Haskins Olney, Lesley C. Adès,...> ;American Journal of Medical Genetics. Part A. 2010 Oct 1
• 60 citations
  Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
  Benjamin D. Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy J. Clegg, Mauricio R. Delgado, Kenneth N. Rosenbaum, Christèle Dubourg, Véronique David, Ann Haskins Oln...> ;Journal of Medical Genetics. 2010 Aug 1
• 7 citations
  18q22.3 --> 18q23 deletion syndrome and cleft palate.
  James D. Eudy, Diane L. Pickering, Richard E. Lutz, Kristal Platt, Bhavana J. Dave, Ann Haskins Olney, Warren G. Sanger> ;American Journal of Medical Genetics. Part A. 2010 Apr 1
• Inherited 14q duplication and 21q deletion: A rare adjacent‐2 segregation in multiple family members
  Bhavana J. Dave, Ann Haskins Olney, Dianna H. Zaleski, Diane L. Pickering, Troy A. Becker, Hope E. Chipman, Warren G. Sanger> ;American Journal of Medical Genetics. Part A. 2009 Oct 1
• 2 citations
  Case report: two patients with oculocerebrocutaneous syndrome and terminal digital amputations.
  Nathan G. Asher, Ann Haskins Olney, G. Bradley Schaefer> ;Seminars in Pediatric Neurology. 2008 Dec 1
• 39 citations
  Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations
  Diane L. Pickering, James D. Eudy, Ann Haskins Olney, Bhavana J. Dave, Denae M. Golden, Jadd M. Stevens, Warren G. Sanger> ;Genetics in Medicine. 2008 Apr 1
• 2 citations
  Macrocephaly syndromes.
  Ann Haskins Olney> ;Seminars in Pediatric Neurology. 2007 Sep 1
• 15 citations
  Carriers and patients with muscle–eye–brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts
  Jiri Vajsar, Wenli Zhang, William B. Dobyns, Doug Biggar, Kenton R. Holden, Cynthia Hawkins, Peter N. Ray, Ann Haskins Olney, Catherine M. Burson, Anand Srivastava, Ha...> ;Neuromuscular Disorders. 2006 Feb 1
• 5 citations
  Cryptic duplication and deletion of 9q34.3 --> qter in a family with a t(9;22)(q34.3;p11.2).
  Travis M. Sanger, Ann Haskins Olney, Dianna H. Zaleski, Diane L. Pickering, Marilu Nelson, Warren G. Sanger, Bhavana J. Dave> ;American Journal of Medical Genetics. Part A. 2005 Sep 15
• Join now to see all