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Photo of Dr. Meral Gunay-Aygun

Meral Gunay-Aygun, MD

Pediatrician, Metabolic Geneticist
Associate Professor of Pediatrics

See Research on Pubmed | See Research on Google Scholar

Female
Appointment Phone

410-955-3071

Main Location

Johns Hopkins Pediatric Specialty Clinic

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Titles

  • Pediatrician, Metabolic Geneticist
  • Associate Professor of Pediatrics

Centers & Institutes

  • McKusick-Nathans Institute of Genetic Medicine

Expertise

Genetics and Inherited Diseases, Medical Genetics, Pediatric Metabolic Disorders

Research Interests

Pediatric genetic disorders; Inborn errors of metabolism

Biography

Dr. Meral Gunay-Aygun is an associate professor of pediatrics and genetics at the McKusick-Nathans Institute of Genetic Medicine. She holds a medical degree from Hacettepe University School of Medicine in Ankara, Turkey.

Dr. Gunay-Aygun completed residencies in pediatrics at Marmara University Hospital, Hacettepe University Children’s Hospital and Cape Western Reserve University. She completed an additional residency in medical genetics at Cape Western Reserve University and a fellowship in biochemical genetics at the National Human Genome Research Institute (NHGRI) at the National Institutes of Health before joining the Johns Hopkins faculty in 2011.

She is a member of myriad professional organizations, including the American Society of Human Genetics, the American Academy of Pediatrics, the Society of Pediatric Research and the Society for Inherited Metabolic Disorders.

Her work has been recognized through the Innovative Leadership Award from the National Geographic Society, as well as an NHGRI merit award for her management of successful clinical protocol related to kidney disease and congenital hepatic fibrosis.

Languages

  • English
  • Turkish

Memberships

  • Ohio Department of Health Newborn Screening Laboratory Advisory Committee, Laboratory Consultants Subcommittee, 2001-2003
  • Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis Alliance, Professional Advisory Board
  • NHGRI, NIH, IRB, Scientific Review Board
  • American Society of Human Genetics
  • American Collage of Medical Genetics
  • Society for Inherited Metabolic Diseases
  • American Academy of Pediatrics
  • Society for Pediatric Research
Additional Resources +
  • Education +

    Training

    • Hacettepe University Faculty of Medicine (Ankara) (1987)

    Residencies

    • St. Vincent Charity Medical Center / Pediatrics (Cleveland OH ) (1998)
    • Case Western Reserve University / Genetics (Cleveland OH ) (1997)
    • Haceteppe Children's Hospital / Pediatrics (Ankara) (1994)
    • Marmara University Faculty of Medicine / Pediatrics (Istanbul) (1989)

    Fellowships

    • National Institutes of Health / Genetics (Bethesda MD ) (2004)
    • Cleveland Clinic (Cleveland OH ) (1999)

    Certifications

    • Clinical Genetics (MD), American Board of Medical Genetics (2010)
    • Clinical Biochemical Genetics, American Board of Medical Genetics (2005)
  • Research & Publications +

    Selected Publications View all on PubMed

     

    1. Gunay-Aygun, Meral and William A Gahl. Autosomal-Recessive      Polycystic Kidney Disease Gets More Complex (Reply). Gastroenterology. 2013 May;144(5):1156-7.
    2. Gunay-Aygun M, Font-Montgomery      E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, Daryanani K, Turkbey      B, Fischer R, Bernardini I, Sincan M, Zhao X, Sandler N, Roque A, Douek D,      Graf J, Huizing M, Bryant J, Mohan P, Gahl W, Heller T. Characteristics of Congenital Hepatic Fibrosis in a      Large Cohort of Patients with Autosomal Recessive Polycystic Kidney      Disease. Gastroenterology. 2013      Jan;144(1):112-121
    3. Jill      A. Fahrner, Anne M. Murphy, and Meral Gunay-Aygun. Hypertrophic      Cardiomyopathy: How far should we go with genetic testing? Am J Med Genet A. 2012 Jun;158A(6):1414-21. doi:      10.1002/ajmg.a.35363. Epub 2012 May 14
    4. Jill A. Fahrner, Aisha      Frazier, Suha Bachir, Michael F.      Walsh, Carolyn D. Applegate, Reid Thompson, Marc K. Halushka, Anne M.      Murphy, and Meral Gunay-Aygun.      A Rasopathy Phenotype with Severe Congenital Hypertrophic Obstructive      Cardiomyopathy associated with a PTPN11 Mutation and a Novel      Variant in SOS1. American J      of Medical Genetics, 2012;158A(6):1414-21.     
    5. O’Brien K, Font-Montgomery      E, Lukose L, Bryant J, Piwnica-Worms K, Edwards H, Riney L, Garcia A, Daryanani      K, Choyke P, Mohan P, Heller T, Gahl WA, and Gunay-Aygun M. Congenital Hepatic Fibrosis and Portal      Hypertension in Autosomal Dominant Polycystic Kidney Disease. J Pediatr Gastroenterol Nutr. 2012 Jan; 54(1):83-9.
    6. Topaloglu R, T Vilboux, T.      Coskun, F. Ozaltin, B. Tinloy, M.      Gunay-Aygun , A. Bakkaloglu, N. Besbas, B. van den Heuvel, R. Kleta, W.A. Gahl. Genetic      basis of cystinosis in Turkish patients: a single center experience. Pediatr Nephrol. 2012 Jan;27(1):115-21.
    7. Bachmann-Gagescu R, Ishak      GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline      AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L,      Ronan A, Parisi MA, Mefford H, Glass I, Doherty D. Genotype-phenotype      correlation in CC2D2A-related      Joubert syndrome reveals an association with ventriculomegaly and      seizures. J Med Genet. 2012 Feb; 49(2):126-37.
    8. Ali H. Charafeddine, Eugenia J. Kim, Dawn M. Maynard,      Hong Yi, Timothy A. Weaver, Meral      Gunay-Aygun, Maria Russell, William A. Gahl, and Allan D. Kirk. Platelet-derived      CD154: ultrastructural localization and clinical correlation in organ      transplantation. Am J Transplant. 2012      Nov;12(11):3143-51.
    9. Gunay-Aygun M, Turkbey BI, Bryant J,      Daryanani KT, Gerstein MT, Piwnica-Worms K, Choyke P, Heller T, Gahl WA. Hepatorenal findings      in obligate heterozygotes for autosomal recessive polycystic kidney      disease. Mol Genet Metab. 2011 Dec;104(4):677-81.
    10. Cullinane      AR, Vilboux T, O’Brien K, Curry JA, Maynard D, Carlson-Donohoe, H,      Ciccone, C, NISC Comparative Sequencing Program, Markello, T, Gunay-Aygun M, HuizingM,      and Gahl AW. Homozygosity      Mapping and Whole Exome Sequencing to Diagnose SLC45A2 and G6PC3      Mutations Mimicking HPS-2. J Invest      Dermatol. 2011 Oct;131(10):2017-25.
    11. White JG and Gunay-Aygun M. The York Platelet      Syndrome: A third case. Platelets 2011; 22:117-34.
    12. Gunay- Aygun M, Falik-Zaccai      T, Vilboux T, Zivony-Elboum      Y, Gumruk F, Cetin M, Khayat M, Boerkoel C, Kfir N, Huang Y, Maynard D, Dorward H, Berger K,      Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel      Beate E10,      Jurk Kerstin10,      Cruz Pedro11, Mullikin Jim C11,      White James G12, Huizing Marjan1,Gahl      William A1,2 NBEAL2 is mutated in Gray Platelet Syndrome and required for biogenesis of      platelet alpha-granules. Nat Genet. 2011      Jul 17;43(8):732-4.
    13. Ware S, Gunay-Aygun M, Hildebrant F. Other      ciliopathies with some clinical features of Primary Ciliary Dyskinesia. (Primary Ciliary Dyskinesia and Overlapping Syndromes). Proc Am Thorac Soc. 2011 Sep;8(5):444-50.
    14. Gunay-Aygun M, Zivony-Elboum      Y, Gumruk F, Geiger D, Cetin M, Khayat M,      Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Bugos M, Shalata A, Stanescu      H, Manaster  J, Arat      M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P,      Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen      NF,Cherukuri PF, Jones M,      Cruz P, Mullikin JC, Nurden A, White JG,      Gahl WA, and Falik-Zaccai TC. Gray      Platelet Syndrome: Natural history of a large patient cohort and locus      assignment to chromosome 3p. Blood      2010:116:4990-5001
    15. Chetty-John S, Piwnica-Worms K, Bryant      J, Bernardini I, Fischer R, Heller T, Gahl WA and Gunay-Aygun M. Fibrocystic Disease of the Liver and Pancreas;      Underrecognized features of the X-linked Ciliopathy Oral-Facial-Digital      Syndrome Type 1 (OFD I). American J of Medical Genetics 2010;152:2640-5.
    16. Maynard DM, Heijnen HF,      Gahl WA, Gunay-Aygun M. The alpha granule proteome: novel      proteins in normal and ghost granules in gray platelet syndrome. Journal of Thrombosis and      Homeostasis 2010; 8:1786-96.
    17. Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J,      Bryant JC, Kleta R, Garcia A, Edwards H, Piwnica-Worms K, Adams D, Bernardini      I, Fischer RE, Krasnewich D, Oden N, Ling A, Quezado Z, Zak C, Daryanani      K, Turkbey B, Choyke P, Guay-Woodford L, Gahl WA. Correlation of Kidney      Function, Volume, and Imaging Findings and PKHD1 Mutations in 73 Patients      with Autosomal Recessive Polycystic Kidney Disease. Clinical Journal of the American Society of Nephrology 2010;      5:972-84.
    18. Doherty D,Parisi M,Finn LS,      Gunay-Aygun M, Al-Mateen      M, Bates D, Clericuzio C, Demir      H, Dorschner M, van      Essen AJ, Gahl WA, Gentile M, Gorden      NT, Hikida A, Knutzen D, Özyurek H, Phelps I, Rosentha P, Verloe A, Weigand H, Chance PF, Dobyns      WB, and Glass IA. Mutations in 3 genes (MKS3, RPGRIP1L,      and CC2D2A) cause COACH syndrome/Joubert syndrome with congenital hepatic      fibrosis. Journal of Medical     Genetics 2010; 47:8-21
    19. Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards      H, Garcia A, Ausawarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini      I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA. PKHD1 Sequence      variations in 78 Children and Adults with Autosomal Recessive Polycystic      Kidney Disease and Congenital Hepatic Fibrosis. Molecular Genetics and Metabolism 2010; 99:160-73.
    20. Gunay-Aygun M. Liver      and Kidney Disease in Disorders of the Primary Non-Motile Cilia. American Journal of Medical Genetics,      Seminars in Medical Genetics 2009; 151 :296-306.
    21. Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Lukose      L, Bryant JC, Golas G, Dorward H, Ciccone C, Daryanani KT, Kleiner DE,      Huizing M, Turkbey B, Choyke P, Guay-Woodford      L, Heller T, Szymanska K, Johnson CA,      Glass I, Gahl WA. MKS3-related      Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease,      Nephronophthisis and Joubert Syndrome. Journal      of Pediatrics 2009; 155:386-92.
    22. Turkbey B, Ocak I,      Daryanani K, Font-Montgomery E, Lukose L, Bryant J, Tuchman M, Mohan P,      Heller T, Gahl WA, Choyke PL, Gunay-Aygun      M. Autosomal recessive polycystic kidney disease and congenital      hepatic fibrosis (ARPKD/CHF). Pediatric Radiology 2009; 39:100-11.
    23. Huizing M, Helip-Wooley A,      Westbroek W, Gunay-Aygun M,      Gahl WA. Disorders of lysosome-related organelle biogenesis: clinical and      molecular genetics. Annual Reviews in      Genomics Human Genetics 2008; 9: 359-86.
    24. Gunay-Aygun M, Avner ED, Bacallao RL, Choyke P, Flynn J, Germino GG,      Guay-Woodford L, Harris PC, Heller T, Ingelfinger J, Kaskel F, Kleta R, LaRusso      NF, Mohan P, Pazour GJ, Shneider BL, Torres V, Wilson P, Zak C, Zhou J,      Gahl WA. Autosomal Recessive Polycystic Kidney Disease and Congenital      Hepatic Fibrosis: Summary Statement of a First National Institutes of      Health/Office of Rare Diseases Conference. Journal of Pediatrics 2006:149:159-64.
    25. Gunay-Aygun M. Inborn Errors Digest: 3-Methylglutaconic      Aciduria: A Common Biochemical Marker in Various Syndromes with Diverse      Clinical Features. Molecular Genetics      and Metabolism 2005; 84:1-3.
    26. Zarzour W, Kleta R, Frangoul H, Suwannarat      P, Jeong A, Kim SY, Wayne AS, Gunay-Aygun      M, White J, Filipovich AH, Gahl WA. Two novel CHS1 (LYST)      mutations: Clinical correlations in an infant with Chediak-Higashi      syndrome. Molecular Genetics and      Metabolism 2005; 85:125-32.
    27. Gunay-Aygun M, Huizing M, Gahl WA. Molecular Defects      That Affect Platelet Dense Granules. Seminars      in Thrombosis and Hemoastasis 2004; 30: 537-547.
    28. Gunay-Aygun M, Schwartz S, Heeger S, O’Riordian MA, and      Cassidy SB. The changing purpose of Prader-Willi Syndrome Clinical      Diagnostic Criteria and Proposed Revised Criteria. Pediatrics 2001; 108: 1200-1201.
    29. Kilic I, Kilic BA, Gunay-Aygun M, and Aksit MA. Camptodactyly, Myopia, and      Fibrosis of the Medial Rectus of the eye in two sibs born to      Consanguineous Parents: Autosomal Recessive Entity? American Journal of Medical Genetics 1998; 77:28-30.
    30. Gunay-Aygun M, Cassidy SB, and Nicholls RD.      Prader-Willi and other syndromes associated with obesity and mental      retardation. Behavior Genetics 1997; 27:307-324.
    31. Gunay-Aygun M, Heeger S, Schwartz S, Cassidy SB. Delayed      diagnosis in patients with Prader-Willi syndrome due to maternal      uniparental disomy 15. American      Journal of Medical Genetics 1997; 71:106-110.
    32. Robin NH, Gunay-Aygun M, Polinkovsky A, Warman ML, and Morrison      S. Clinical and locus heterogeneity in brachydactyly type C. American Journal of Medical Genetics      1997; 68:369-377.
    33. Gunay M, and Aysun S. Neuronal      migration disorders presenting with mild clinical symptoms. Pediatric Neurology 1996;      14:153-154.
    34. Gogus S, Topcu M, Kucukali T, Akcoren Z,      Berkel I, Ersoy F, Gunay M, and Saatci I. Griscelli      Syndrome: Report of three cases. Pediatric      Pathology and Laboratory Medicine 1995; 15:309-319.
    35. Özsoylu S, Cemeroglu AP, Gunay M. Vitamin A for Varicella. Journal of Pediatrics 1994;      125:1017-8.
    36. Aysun S, Topçu M, Gunay M, Topaloglu H. Neurologic features as initial      presentations of childhood malignancies. Pediatric Neurology 1994; 10:40-43.
    37. Gürgey A, Sayli T, Gunay M, Ersoy F, Küçükali T, Kale G, Çaglar M.      High-dose methylprednisolone and VP-16 in the treatment of Griscelli      syndrome with central nervous system involvement. American Journal of Hematology 1994; 47:331-2.
    38. Ozon A, Topaloglu H, Cila A, Gunay M, and Çetin M. Acute      ascending myelitis and encephalopathy after intrathecal cytosine      arabinoside and methotrexate in an adolescent boy with acute lymphoblastic      leukemia. Brain and Development      1994; 16:246-8.
    39. Çetin M, Yetgin S, Kara A, Tuncer M, Gunay M, Gümrük F, Gürgey A.      Hyperglycemia, ketoacidosis and other complications of L- Asparaginase in      children with acute lymphoblastic leukemia. Journal of Medicine 1994; 25:219-29.
    40. Balci S, Önol B, Erçal MD, Gunay M, Besim A, Eryilmaz M.      Autosomal recessive holoprosencephaly with cyclops in three female sibs:      prenatal ultrasonographic diagnosis at 18th week. Clinical Dysmorphology 1993; 2:165-8.
    41. Tokatli A, Coskun T, Ozalp      I, Gunay M. The major      presenting symptom in a biotinidase deficient patient: Laryngeal stridor. Journal of Inherited Metabolic Disease      1992; 15: 281-2.
  • Academic Affiliations & Courses +

    Graduate Program Affiliation

    • Medical Genetics Residency and Clinical Biochemical Genetics Fellowship Programs, Johns Hopkins University School of Medicine
    • Medical Genetics Fellowship Program, NHGRI, NIH
    • Medical Biochemical Genetics Residency Program, NHGRI, NIH
    • Inborn errors of metabolism course (MEDI 507), Foundation for advanced education in the sciences (FAES) graduate school at NIH
  • Activities & Honors +

    Honors

    • Most productive pediatric resident award. Hacettepe University Children’s Hospital, Ankara Turkey (1994)
    • Best senior pediatric resident research project award, Science Day, Rainbow Babies and Childrens Hospital, / Case Western Reserve University, Cleveland, Ohio. (1998)
    • NHGRI merit award for “initiation and management of an extremely successful clinical protocol investigating autosomal recessive polycystic kidney disease and congenital hepatic fibrosis”. (2007)
    • Innovative Leadership Award for ARPKD/CHF Research. Genetic Alliance 25th Anniversary Celebration. National Geographic Society in Washington, DC, September 22, 2011. (2011)
    • Awarded NIH Intramural Sequencing Center (NISC)-Funded Flagship Project “Identification of Ciliopathy Genes” (Whole exome sequencing of 130 samples of cilipathy families). (2013)

    Professional Activities

    Dr. Gunay-Aygun performs her reseacrh at the National Human Genome Research Institute (NHGRI), at the National Institutes of Heath (NIH). She is senior attending staff at the NIH Clinical Center.

    • Professional advisory board of ARPKD/CHF Alliance
    • Reviewer, Scientific Review Committee, NHGRI IRB
    • NHGRI representative of NIH scientific organizing committee for Middle East-North Africa - Newborn Screening initiative (MENA-NBS).
    • Nutrition and Dietary Supplement Interventions for Inborn Errors of Metabolism Committee. A National Institutes of Health / Office of Dietary Supplements / Office of Rare Diseases Research Initiative to Guide Clinical Practice through Evidence-Based Research

    Peer-Review Journal Participation:

    • American Journal of Medical Genetics
    • Journal of Inherited Metabolic Disorders
    • Molecular Genetics and Metabolism
    • European Journal of Pediatrics
    • Journal of Pediatrics
    • Pediatric Nephrology
    • Saudi Journal of Gastroenterology
    • UpToDate in Pediatrics
    • World Journal of Pediatrics
    • Kidney International
    • Haematologica
    • Pediatric and Developmental Pathology
    • Molecular Genetics & Genomic Medicine
    • American Journal of Kidney Diseases
    • Proteomics and Bioinformatics
    • Pediatric and Developmental Pathology
    • Pediatrics
    • American Journal of Human Genetics
    • European Journal of Medical Genetics
  • Videos & Media +

    Lectures and Presentations

    1. Recent advances in diagnosing genetic disorders”, Neonatology/High risk obstetrics conference, Aultman Hospital, Aultman, OH, 2001
    2. “Clinical Findings of NIH Natural History Protocol on ARPKD/CHF”. First NIH/Office of Rare Diseases Conference on Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis (ARPKD/CHF). Bethesda, MD May 5, 2005.
    3. “NIH ARPKD/CHF Natural History Study”. Invited lecture in Polycystic Kidney Foundation Meeting, CA June 23, 2005
    4. “Report on the NIH ARPKD/CHF Natural History Study”. Invited lecture in Symposium on ARPKD/CHF Society for Pediatric Research /Pediatric Academic Societies Meeting, San Francisco, CA May 2, 2006
    5. “Cystic Diseases and Cilia: A New Frontier”, Invited lecture in National Institutes of Health “Demystifying Medicine” Lecture Series. January 22, 2008, Bethesda, MD.
    6. “Natural History of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis (ARPKD/CHF)”. Invited lecture in 2008 FASEB Summer Research Conferences, Polycystic Kidney Disease: Basic, Translational and Clinical Science, July 27-August 1, 2008, Snowmass Village, Colorado
    7. “Fibrocystic diseases of the kidneys and liver in disorders of the primary cilia/centrosome”. Invited lecture in 29th Annual David W. Smith Workshop on Malformations and Morphogenesis, August 8th - 13th, 2008, Hotel du Lac, Mont-Tremblant (Quebec).
    8. “Congenital Hepatic Fibrosis: A common feature in various ciliopathies”. Invited lecture in American Society of Human Genetics Annual Meeting.  November 11-15, 2008, Philadelphia, PA.
    9. “Autosomal Recessive Polycystic Kidney Disease; Lessons from the NHGRI Natural History Study”. Invited lecture in Pediatric Academic Societies Meeting, May 5, 2009, Baltimore, MD.
    10. “Kidney and Liver Disease in Joubert Syndrome and related disorders”. Invited lecture in Joubert Syndrome and Related Cerebellar Disorders Foundation Biennual Meeting. Cincinnati, OH, July 15-16, 2009
    11. Clinical Characteristics of Human Ciliopathies. Invited lecture in Johns-Hopkins University-McKusick-Nathans Institute of Genetic Medicine Seminar Series, Baltimore, MD. March 10, 2010.
    12. “Spectrum of Clinical Diseases Caused by Ciliopathies”.  Invited lecture in Primary Ciliary Dyskinesia and Overlapping Syndromes Conference, St. Louis, Missouri, September 30-October 1, 2010.
    13. “Characteristics of Kidney and Liver Disease in 40 Joubert syndrome patients”. Invited lecture in Joubert Syndrome and Related Cerebellar Disorders Foundation Biennual Meeting. Orlando, FL, July 15-16, 2011
    14. “Subtleties and Surprises: The Clinical Manifestations of Autosomal Recessive Polycystic Kidney Disease”. Invited lecture in session: Renal Cystic Diseases: New Insights into Clinical Disease Expression, April 10, 2011.  International Society of Nephrology, World Congress of Nephrology 2011. Vancouver, British Columbia, April 8-12, 2011.
    15. “Gray Platelet Syndrome: Clinical features and Genetic Analysis”  Invited lecture in symposium entitled “Congenital Thrombocytopenia” XXIII Congress of the International Society on Thrombosis and Homeostasis, Kyoto, Japan on July 23 to 28, 2011.
    16. “Overview of Clinical Features of Disorders of the Primary Cilia”. 25th Annual NIH Research Festival. Bethesda, MD. October 24, 2011.
    17. Panelist, National Institutes of Health Workshop “Natural History Studies of Rare Diseases: Meeting the Needs of Drug Development and Research”, “Prospective Cross-sectional studies” session. May 16–17, 2012, Bethesda, Maryland.
    18. Panelist, Autosomal Recessive Polycystic Kidney Disease: Consensus Development Meeting, May 7-8, 2013, Washington, DC.
    19. “Alstrom syndrome: NIH study findings”. 7th International Family Conference, Research Clinic, and Scientific Symposium. Plymouth, MA. May 9-13, 2013.
    20. “NIH Study “Clinical and Molecular Investigations into Human Ciliopathies"”. FASEB Mtg Biology of Cilia and Flagella, June 23-28, 2013 in Niagara Falls, New York.
    21. “Hepatorenal disease in Joubert syndrome and related disorders” Joubert Syndrome and Related Disorders Foundation Conference. Minneapolis, Minnesota. July 10-13, 2013.
    22. “Natural history of Joubert Syndrome” 2nd Joubert Syndrome Biennial Conference: Advancing Translational Ciliopathy Research, Enhancing Clinical Care. Satellite Mtg before American Society of Human Genetics Annual Mtg, October 21-22, 2013, Boston, MA
  • Events +

    Grand Rounds Lectures

    1. “Newborn screening for metabolic disorders in Ohio: interpretation, confirmatory testing and interim management” Pediatric Grand Rounds, Children’s Hospital Medical Center of Akron, Akron, OH, 2001
    2. “Approach to the child with fatty acid oxidation defect”, Pediatric Grand Rounds, Children’s Hospital Medical Center of Akron, Akron, OH, 2001
    3. “Clinical Characteristics of Autosomal Recessive Polycystic Kidney Disease and other Ciliopathies” Renal Grand Rounds. Johns   Hopkins University Medical School. Baltimore, MD, May 4, 2012.
    4. “Bardet-Biedel Syndrome” Genetics Grand Rounds, University Hospitals of Cleveland/Case Western Reserve University, Cleveland, Ohio, 1996
    5. “Abdominal wall defects: gastroschisis and omphalocele” Obstetrics – Genetics –High risk neonatology Grand Rounds, University Hospitals of Cleveland/Case Western Reserve University, Cleveland, OH, 1998
    6. “Fragile-X Syndrome” Genetics Grand Rounds, University Hospitals of Cleveland/Case Western Reserve University, Cleveland, Ohio, 1999
    7. “Ciliary Diseases: Converging Observations and Diverging Models”. NIH Clinical Center Grand Rounds, Bethesda, MD. January 27, 2010.
  • Contact & Locations +

    Locations

    Johns Hopkins Pediatric Specialty Clinic
    200 N. Wolfe Street
    Johns Hopkins Harriet-Lane Outpatient Clinic
    Baltimore, MD 21287
    Phone: 410-955-0317
    Appointment Phone: 410-955-3071
    Fax: 410-614-9246
    Location Map

    Department/Division

    • Pediatrics - Metabolism
    • Pediatrics - Genetics

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