DimitarKirilovGavrilovMD

PubMed

• SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations.
  Karen Sanders, Dawn Peck, Gisele Bentz Pino, April Studinski Jones, Amy White, Dietrich Matern, Devin Oglesbee, Matthew Schultz, Silvia Tortorelli, Patricia L Hall, Di...> ;Molecular Genetics and Metabolism. 2024 Mar 24
• 5 citations
  [Analysis of the distribution of alleles of four hypervariable tandem repeats among unrelated Russian individuals living in Moscow, using the polymerase chain reaction].
  D A Chistiakov, D K Gavrilov, Igor V. Ovchinnikov, Nosikov Vv> ;Molekuliarnaia Biologiia. 1993 Nov 1
• 3 citations
  [Use of the polymerase chain reaction for typing allelic variants of the human HLA-DQA1 by hybridization with oligonucleotide probes, specific for specific alleles].
  Igor V. Ovchinnikov, D K Gavrilov, Nosikov Vv, V. G. Debabov> ;Molekuliarnaia Biologiia. 1991 Sep 1
• G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.
  Savov A, Jordanova A, Gavrilov D, Angelicheva D, Kalaydjieva L> ;Human molecular genetics.
• 9 citations
  Frequency analysis of HLA-DQA1 and HLA-DQB1 gene alleles and susceptibility to type 1 diabetes mellitus in Russian patients.
  D. K. Gavrilov, T. L. Kuraeva, Ivan Ivanovich Dedov, A. S. Sergeev, Nosikov Vv> ;Acta Diabetologica. 1994 Jun 1
• 66 citations
  Expression of urokinase plasminogen activator and receptor in conjunction with the ets family and AP-1 complex transcription factors in high grade prostate cancers
  D. Gavrilov, O. Kenzior, M. Evans, R. Calaluce, William R. Folk> ;European Journal of Cancer. 2001 May 1
• 10 citations
  A new D-galactose treatment monitoring index for PGM1-CDG.
  Ester Perales-Clemente, Kristen Liedtke, April Studinski, Silvia Radenkovic, Dimitar Gavrilov, Devin Oglesbee, Dietrich Matern, Piero Rinaldo, Silvia Tortorelli, Eva M...> ;Journal of Inherited Metabolic Disease. 2021 May 27
• 4 citations
  The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.
  Adam J. Guenzel, Patricia L. Hall, Anna I. Scott, Christina Lam, Irene J. Chang, Jenny Thies, Carlos Ferreira, Pavel N. Pichurin, William Laxen, Kimiyo Raymond, Dimita...> ;JIMD Reports. 2021 Apr 5
• 5 citations
  Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
  Sheri A. Poskanzer, Matthew J. Schultz, Coleman T. Turgeon, Noemi Vidal-Folch, Kris Liedtke, Devin Oglesbee, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Pier...> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 18 citations
  A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
  Karen A. Sanders, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, John J. Hopwood, Fred Lorey, Ramanath Majumdar, Charles A. Kroll, Amber McDonald...> ;International Journal of Neonatal Screening. 2020 May 30
• 3 citations
  Laboratory monitoring of patients with hereditary tyrosinemia type I
  Matthew J. Schultz, Brian C. Netzel, Rani H. Singh, Gisele Pino, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli, Wendy E. Smith, Di...> ;Molecular Genetics and Metabolism. 2020 Jun 6
• 8 citations
  Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Tes...
  Aashish N. Adhikari, Robert J. Currier, Hao Tang, Coleman T. Turgeon, Robert L. Nussbaum, Rajgopal Srinivasan, Uma Sunderam, Pui-Yan Kwok, Steven E. Brenner, Dimitar G...> ;International Journal of Neonatal Screening. 2020 May 26
• 16 citations
  Pyridoxine Responsiveness in a Type 1 Primary Hyperoxaluria Patient With a Rare (Atypical) AGXT Gene Mutation.
  Prince Singh, Fouad T. Chebib, Andrea G. Cogal, Dimitar Gavrilov, Peter C. Harris, John C. Lieske> ;Kidney International Reports. 2020 Apr 13
• 19 citations
  The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalami...
  Dimitar Gavrilov, Amy L Piazza, Gisele Pino, Coleman T. Turgeon, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Piero Rinaldo> ;International Journal of Neonatal Screening. 2020 Apr 10
• 34 citations
  The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
  Adam J. Guenzel, Coleman T. Turgeon, Kim K. Nickander, Amy L. White, Dawn Peck, Gisele Pino, April Studinski, Vinod K. Prasad, Joanne Kurtzberg, Maria L. Escolar, Mari...> ;Genetics in Medicine. 2020 Feb 24
• 13 citations
  Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
  Dawn S Peck, Jean M Lacey, Amy L White, Gisele Pino, April L Studinski, Rachel Fisher, Ayesha Ahmad, Linda Spencer, Sarah Viall, Natalie Shallow, Amy Siemon, J Austin ...> ;International Journal of Neonatal Screening. 2020 Mar 1
• 5 citations
  Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.
  Gisele Pino, Erin Conboy, Silvia Tortorelli, Sara Minnich, Kim K. Nickander, Jean M. Lacey, Dawn Peck, April Studinski, Amy M White, Dimitar Gavrilov, Piero Rinaldo, D...> ;Molecular Genetics and Metabolism. 2020 Feb 1
• 8 citations
  Clinical, Biochemical and Molecular Characteristics of malonyl-CoA Decarboxylase Deficiency and Long-Term Follow-Up of Nine Patients
  Cristel C. Chapel-Crespo, Dimitar Gavrilov, Mary Sowa, Jessica Myers, Debra-Lynn Day-Salvatore, Haley Lynn, Debra S Regier, Danielle Starin, Maija R. Steenari, Kees Sc...> ;Molecular Genetics and Metabolism. 2019 Jan 1
• 37 citations
  Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy
  Noemi Vidal-Folch, Dimitar Gavrilov, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli, Dietrich Matern, Devin Oglesbee> ;Clinical Chemistry. 2018 Jan 1
• 95 citations
  Precision newborn screening for lysosomal disorders.
  Melissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, Lea Mott, Dawn Peck, Stephanie L. Nett, Jason S Eckerman, Jean M. Lacey, Coleman T. Turgeon, Dimitar Gavrilov,...> ;Genetics in Medicine. 2018 Aug 1
• 40 citations
  Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.
  Silvia Tortorelli, Jason S Eckerman, Joseph J. Orsini, Colleen F. Stevens, Jeremy Hart, Patricia L. Hall, John J. Alexander, Dimitar Gavrilov, Devin Oglesbee, Kimiyo R...> ;Genetics in Medicine. 2018 Aug 1
• 7 citations
  Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.
  Ramanath Majumdar, Andrew Yori, Peggy W. Rush, Kimiyo Raymond, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Piero Rinaldo, Gerald L. Feldman, Devin Oglesbee> ;Molecular Genetics & Genomic Medicine. 2017 Sep 11
• 11 citations
  A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening
  Noemi Vidal-Folch, Dragana Milosevic, Ramanath Majumdar, Dimitar Gavrilov, Dietrich Matern, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli, Roshini S. Abraham, Devin...> ;The Journal of Molecular Diagnostics. 2017 Sep 1
• 3 citations
  Cyanide-Nitroprusside Colorimetric Assay: A Rapid Colorimetric Screen for Urinary Cystine
  Clayton T. Brady, Callen D. Giesen, Nikolay Voskoboev, Robin S. Chirackal, Dimitar Gavrilov, Ryan M. Flanagan, John C. Lieske> ;The Journal of Applied Laboratory Medicine. 2017 Jul 1
• 17 citations
  Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.
  Sophie Nambot, D Gavrilov, Julien Thevenon, Ange-Line Bruel, Matthew N. Bainbridge, Marlène Rio, Cyril Goizet, Agnès Rötig, Jaak Jaeken, N Niu, Fan Xia, A Vital, Nada ...> ;Clinical Genetics. 2017 Feb 1
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