RehaToydemirMDPhD

PubMed

• 3 citations
  Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of ...
  Daniel P. Larson, Yassmine Akkari, Daniel L. Van Dyke, Gordana Raca, Juli Anne Gardner, Catherine Rehder, Kathleen Kaiser-Rogers, Penny Eagle, Jason A. Yuhas, Jun Gu, ...> ;Archives of Pathology & Laboratory Medicine. 2021 Feb 1
• 3 citations
  Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
  Thomas J Nicholas, Najla Al-Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak-Toydemir, Christine E Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J Hernandez,...> ;Molecular Genetics & Genomic Medicine. 2022 Apr 1
• 4 citations
  Identification of KMT2A-ARHGEF12 fusion in a child with a high-grade B-cell lymphoma.
  Kristian T. Schafernak, James A. Williams, Benjamin I. Clyde, Chelsea Marcus, Brennan Decker, Reha M. Toydemir> ;Cancer Genetics. 2021 Jun 27
• Flow Cytometry Is More Sensitive Than Fluorescence In Situ Hybridization for Detecting Minimal Residual Disease.
  David P Ng, Rodney R. Miles, Erica F. Andersen, Reha M. Toydemir> ;American Journal of Clinical Pathology. 2021 Sep 8
• Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism.
  Reha M. Toydemir, Emanuele Panza, Maria Longhurst, Sarah T. South, Alan F. Rope> ;Molecular Syndromology. 2020 Apr 10
• 8 citations
  Chronic myelomonocytic leukemia with ETV6-ABL1 rearrangement and SMC1A mutation.
  Melissa H. Cessna, Prabakaran Paulraj, Benjamin Hilton, Kianoush Sadre-Bazzaz, Philippe Szankasi, Alice Cluff, Jay Patel, Daanish Hoda, Reha M. Toydemir> ;Cancer Genetics. 2019 Oct 1
• 5 citations
  Pediatric acute myeloid leukemia with t(7;21)(p22;q22).
  Prabakaran Paulraj, Steven Diamond, Faisal Razzaqi, J. Daniel Ozeran, Maria Longhurst, Erica F. Andersen, Reha M. Toydemir, Bo Hong> ;Genes, Chromosomes & Cancer. 2019 Aug 1
• 2 citations
  Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature.
  John Herriges, Ellen M. Arch, Pamela A. Burgio, Erin E. Baldwin, Danielle LaGrave, Allen N. Lamb, Reha M. Toydemir> ;Journal of Child Neurology. 2019 Feb 1
• 4 citations
  Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions
  Sarah L. Dugan, Emanuele Panza, Amanda Openshaw, Lorenzo D. Botto, Jose A. Camacho, Reha M. Toydemir> ;American Journal of Medical Genetics. Part A. 2018 Dec 1
• Characterizing Atypical BCL6 Signal Patterns Detected by Digital Fluorescence In Situ Hybridization (FISH) Analysis.
  Michael Liew, Leslie R. Rowe, Phillipe Szankasi, Christian N. Paxton, Todd W. Kelley, Reha M. Toydemir, Mohamed E. Salama> ;Annals of Laboratory Medicine. 2018 Nov 1
• 2 citations
  Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey.
  Prabakaran Paulraj, Janice C. Palumbos, Amanda Openshaw, John C. Carey, Reha M. Toydemir> ;Cytogenetic and Genome Research. 2018 Jan 1
• 7 citations
  A novel AGGF1-PDGFRb fusion in pediatric T-cell acute lymphoblastic leukemia.
  , , , , , , , , , , , , , , , > ;Haematologica. 2017 Dec 28
• 9 citations
  Detection of genome-wide copy number variants in myeloid malignancies using next-generation sequencing
  Wei Shen, Christian N. Paxton, Philippe Szankasi, Maria Longhurst, Jonathan A. Schumacher, Kimberly Frizzell, Shelly Sorrells, Adam L. Clayton, Rakhi P Jattani, Jay Pa...> ;Journal of Clinical Pathology. 2018 Apr 1
• Developmental Delay and Colon Polyposis.
  N. Jewel Samadder, Randall W. Burt, Reha M. Toydemir> ;Gastroenterology. 2017 Oct 1
• 13 citations
  Clinical features of trisomy 12 mosaicism—Report and review
  Bo Hong, Janice Zunich, Amanda Openshaw, Reha M. Toydemir> ;American Journal of Medical Genetics. Part A. 2017 Jun 1
• 10 citations
  The Occurrence of Occult Acetabular Dysplasia in Relatives of Individuals With Developmental Dysplasia of the Hip.
  Kristen L. Carroll, Alison N. Schiffern, Kathleen A. Murray, David A. Stevenson, David Viskochil, Reha M. Toydemir, Bruce A. MacWilliams, James W. Roach> ;Journal of Pediatric Orthopedics. 2015 Feb 1
• 2 citations
  Neoplastic plasma cell aberrant antigen expression patterns and their association with genetic abnormalities.
  Mohamed E. Salama, Shouying Du, Olga Efimova, Nahla M. Heikal, Erik Wendlandt, Reha M. Toydemir, Sarah T. South, Sherrie L. Perkins, Jerry W. Hussong, Fenghuang Zhan> ;Leukemia & Lymphoma. 2015 Feb 1
• 7 citations
  L1CAM whole gene deletion in a child with L1 syndrome.
  Brandalyn A. Chidsey, Erin E. Baldwin, Reha M. Toydemir, Lauren Ahles, Heather Hanson, David A. Stevenson> ;American Journal of Medical Genetics. Part A. 2014 Jun 1
• 11 citations
  A deletion 13q34/duplication 14q32.2–14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia†
  Pallister Pd, Adam B. Pallister, Sarah T. South, Reha M. Toydemir, John P. Johnson, Linda Beischel, John M. Opitz> ;American Journal of Medical Genetics. Part A. 2011 Apr 1
• 9 citations
  Cytogenetic and molecular characterization of double inversion 3 associated with a cryptic BCR-ABL1 rearrangement and additional genetic changes.
  Reha M. Toydemir, Leslie R. Rowe, Michele K. Hibbard, Mohamed E. Salama, Shashirekha Shetty> ;Cancer Genetics and Cytogenetics. 2010 Sep 1
• 30 citations
  Sheldon-Hall syndrome
  Reha M. Toydemir, Michael J. Bamshad> ;Orphanet Journal of Rare Diseases. 2009 Mar 23
• 52 citations
  Trismus‐pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8
  Reha M. Toydemir, Harold Chen, Virginia K. Proud, Rick A. Martin, Hans van Bokhoven, Ben C.J. Hamel, Joep H. A. M. Tuerlings, Constantine A. Stratakis, Lynn B. Jorde, ...> ;American Journal of Medical Genetics. Part A. 2006 Nov 15
• 100 citations
  A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome
  Reha M. Toydemir, Anna Marie E Brassington, Pinar Bayrak-Toydemir, P. A. Krakowiak, Lynn B. Jorde, Frank G. Whitby, Nicola Longo, David Viskochil, John C. Carey, Micha...> ;American Journal of Human Genetics. 2006 Nov 1
• 155 citations
  A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7
  Pinar Bayrak-Toydemir, Jamie McDonald, Nurten A. Akarsu, Reha M. Toydemir, Fernanda R.O. Calderon, Timur Tuncali, Wei Tang, Franklin J. Miller, Rong Mao> ;American Journal of Medical Genetics. Part A. 2006 Oct 15
• 185 citations
  Mutations in embryonic myosin heavy chain ( MYH3 ) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
  Reha M. Toydemir, Ann Rutherford, Frank G. Whitby, Lynn B. Jorde, John C. Carey, Michael J. Bamshad> ;Nature Genetics. 2006 Apr 16
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Journal Articles

• Delineation of the 9q31 Deletion Syndrome: Genomic Microarray Characterization of Two Patients with Overlapping Deletions  
  Lorenzo D Botto, Jose A Camacho, Reha M Toydemir, Sarah L Dugan, American Journal of Medical Genetics Part A