The 20 Best Camptodactyly Taurinuria Doctors in The United States

. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

Dr. Couser obtained his bachelor’s degree from the University of Virginia and his Medical Doctorate from the Virginia Commonwealth University School of Medicine (VCU SOM). Dr. Couser’s ophthalmology residency was completed at Howard University where he served as co-chief resident in the last year of his residency. He received fellowship training in pediatric ophthalmology and adult strabismus at Emory University. Dr. Couser received a master’s degree in biotechnology from the Johns Hopkins University and completed a residency in clinical genetics at the University of North Carolina at Chapel Hill. He is one of only a few individuals currently board-certified by both the American Board of Ophthalmology and the American Board of Medical Genetics and Genomics. CV https://www.hopkinsmedicine.org/-/media/wilmer/documents/cvs/couser-cv Research Summary My primary research focus involves the identification and management of genetic eye diseases including rare inherited disorders affecting the eyes. Research and scholarly activities have been an integral component of my career path. I have been the principal investigator on 10 clinical trial/IRB studies and a co-investigator on others, participated with several committees or advisory panels related to research activities. I have been credited with over 120 book chapter, journal article and abstract publications. In addition, I served as the primary author/sole editor for a textbook titled Ophthalmic Genetic Diseases: A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities, 1st Edition, published by Elsevier in 2018, which is one of only a few textbooks published in this subject area. I also served as a grant review panelist for the National Eye Institute Career Development Awards. Selected Publications *Couser NL, Masood MM, Strande NT, Foreman AKM, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM. 2015. The phenotype of multiple congenital anomalies- hypotonia-seizures syndrome 1: Report and review. Am J Med Genet Part A 9999A:1–6 *Couser NL, Lambert SR. Botulinum toxin: A treatment of consecutive esotropia in children. Strabismus 2012; 20(4):158-161 Couser NL, Lenhart PD, Hutchinson AK. Augmented Hummelsheim procedure to treat complete abducens nerve palsy. J AAPOS 2012;16(4):331-5 *Natario L. Couser, Maheer M. Masood, Arthur S. Aylsworth, and Roger E. Stevenson. Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genet. 2017, Jan 23:1-12 *Couser NL, Brooks BP, Drack AV, Shankar SP. The evolving role of genetics in ophthalmology. Ophthalmic Genet. 2021 Jan 12:1-4. doi: 10.1080/13816810.2020.1868011. Dr. Couser is rated as an Advanced provider by MediFind in the treatment of Camptodactyly Taurinuria. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Epicanthal Folds, Strabismus, Hypotonia, and Brown Syndrome. Dr. Couser is board certified in American Board Of Medical Genetics And Genomics and American Board Of Ophthalmology.

. Dr. Arnold is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Mitochondrial Trifunctional Protein Deficiency, Krabbe Disease, and Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. Dr. Arnold is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

Angela Scheuerle is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Dallas, Texas. Dr. Scheuerle is rated as an Advanced provider by MediFind in the treatment of Camptodactyly Taurinuria. She is also highly rated in 170 other conditions, according to our data. Her clinical expertise encompasses Hennekam Syndrome, Fetal Akinesia Sequence, Hemihyperplasia, and Incontinentia Pigmenti.

Dr. Nara Lygia De Macena Sobreira is an assistant professor at the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine. Her area of expertise is rare Mendelian phenotypes, analysis of next-generation sequencing, and functional testing of candidate causative variants. She earned her M.D. at the University of Pernambuco in Brazil. She finished her Ph.D. in Human Genetics at Johns Hopkins followed by a one-year postdoc also at Johns Hopkins School of Medicine. During her Ph.D., she worked with Dr. David Valle using next-generation sequencing to elucidate the molecular basis of rare Mendelian phenotypes and in 2010 she discovered PTPN11 as the gene responsible for metachondromatosis by using whole-genome sequencing. She completed residencies in clinical genetics at both Universidade Federal de Sao Paulo and Johns Hopkins. Her main clinical and research focus is on identifying the genetic bases of rare phenotypes, mainly, phenotypes associated with cartilage tumors and vascular anomalies (including Ollier disease and Maffucci syndrome), and on understanding the physiopathology of these phenotypes to identify pharmacological strategies to treat them. She has worked extensively on developing strategies to better analyze the variants identified by next-generation sequencing and on novel strategies for data sharing. She participated on the development of PhenoDB, a phenotypic and genomic database, and created PhenoDB Variant Analysis Tool used worldwide. She is also one of the creators of GeneMatcher, VariantMatcher, and one of the co-founders of the Matchmaker Exchange, all intended to share next-generation sequencing data. She has also worked extensively on functional studies that evaluate the possible pathogenic effects of the candidate causative variants. Recent News Articles and Media Coverage Living the Hopkins Mission Honorees, Johns Hopkins Medicine Successes in Characterizing Genes through GeneMatcher with Nara L. M. Sobreira, MD, PhD, Ambry Genetics (April 30, 2018) Enfermedades raras: el desafio es encontrar otros pacientes que tienen el mismo mal, Lun (26 de septiembre de 2019) 2021 Science Writers' Boot Camp, Johns Hopkins Medicine (June 7, 2021) Making the Perfect Match, Johns Hopkins Medicine (February 1, 2020). Dr. De Macena Sobreira is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. She is also highly rated in 24 other conditions, according to our data. Her clinical expertise encompasses Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy. Dr. De Macena Sobreira is board certified in American Board Of Medical Genetics And Genomics.

Stephanie Campbell is a Pediatrics provider practicing medicine in Royal Oak, Michigan. She has been practicing medicine for over 10 years. Dr. Campbell is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Increased Head Circumference, Delayed Growth, Congenital Athymia, and Acromesomelic Dysplasia Campailla Martinelli Type. Dr. Campbell is board certified in American Board Of Pediatrics. Dr. Campbell is currently accepting new patients.

Erica Fernandes is a Medical Genetics specialist and a Pediatrics provider practicing medicine in New Hyde Park, New York. Dr. Fernandes is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. She is also highly rated in 153 other conditions, according to our data. Her clinical expertise encompasses Microcephaly, Chromosome 13q Deletion, Hennekam Syndrome, and Acrodermatitis Enteropathica.

David Tegay is a Medical Genetics provider practicing medicine in Great Neck, New York. Dr. Tegay is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. His clinical expertise encompasses KBG Syndrome, Gaucher Disease Type 3, Gaucher Disease Type 2, and Gaucher Disease Type 1. Dr. Tegay is board certified in American Board Of Medical Genetics and American Osteopathic Board Of Internal Medicine.

Julie Kaplan is a Pediatrics provider practicing medicine in Cleveland, Ohio. She has been practicing medicine for over 29 years. Dr. Kaplan is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Mosaicism, Gingival Fibromatosis with Hypertrichosis, Mixed Gonadal Dysgenesis, and Turner Syndrome. Dr. Kaplan is board certified in American Board Of Medical Genetics And Genomics, 2020.

Linda Rossetti is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 10 years. Dr. Rossetti is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. She is also highly rated in 87 other conditions, according to our data. Her clinical expertise encompasses Smith-Magenis Syndrome, Miller-Dieker Syndrome, Chromosome 6q Duplication, and Chromosome 8p Deletion. Dr. Rossetti is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

Karen Gripp is a Medical Genetics provider practicing medicine in Wilmington, Delaware. Dr. Gripp is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. She is also highly rated in 122 other conditions, according to our data. Her clinical expertise encompasses Costello Syndrome, RASopathies, Noonan Syndrome, and Gingival Fibromatosis with Hypertrichosis.

Laura Mackay is a Medical Genetics provider practicing medicine in Dallas, Texas. Dr. Mackay is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. She is also highly rated in 132 other conditions, according to our data. Her clinical expertise encompasses Isovaleric Acidemia, Beta-Ketothiolase Deficiency, Biotinidase Deficiency, and Adrenoleukodystrophy (ALD).

Luis Umana is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Dallas, Texas. Dr. Umana is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. He is also highly rated in 177 other conditions, according to our data. His clinical expertise encompasses Classic Galactosemia, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Biotinidase Deficiency, and Argininosuccinic Aciduria.

Helen Lyon is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Lyon is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. She is also highly rated in 81 other conditions, according to our data. Her clinical expertise encompasses Ehlers-Danlos Syndrome (EDS), Musculocontractural Ehlers-Danlos Syndrome (mcEDS), Cockayne Syndrome Type 1, and Manitoba Oculotrichoanal Syndrome. Dr. Lyon is board certified in Clinical Genetics And Genomics.

Amy Kritzer is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Kritzer is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. She is also highly rated in 33 other conditions, according to our data. Her clinical expertise encompasses Maternal Hyperphenylalaninemia, Phenylketonuria (PKU), Biotinidase Deficiency, and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). Dr. Kritzer is board certified in Pediatrics, Medical Biochemical Genetics, and Clinical Genetics And Genomics.

Reena Jethva is a Pediatrics provider practicing medicine in Hackensack, New Jersey. Dr. Jethva is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. Her clinical expertise encompasses Autism Spectrum Disorder, Sunken Fontanelles, HNRNPH2-Related Disorder, and Microcephaly. Dr. Jethva is board certified in American Board Of Medical Genetics And Genomics , American Board Of Medical Genetics And Genomics , and American Board Of Pediatrics.

Ryan Gates is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Fort Worth, Texas. Dr. Gates is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Micrognathia, Von Gierke Disease, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, and PIK3CA-Related Overgrowth Spectrum.

Carolyn Jones is a Medical Genetics provider practicing medicine in Winfield, Illinois. She has been practicing medicine for over 35 years. Dr. Jones is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. She is also highly rated in 101 other conditions, according to our data. Her clinical expertise encompasses Fabry Disease, Multiple Sulfatase Deficiency, Megalencephalic Leukoencephalopathy with Subcortical Cysts, and Danon Disease. Dr. Jones is board certified in American Board Of Medical Genetics And Genomics - Clinical Genetics And Genomics (Certified).

Garrett Gotway is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Dallas, Texas. Dr. Gotway is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. He is also highly rated in 132 other conditions, according to our data. His clinical expertise encompasses Caudal Duplication, 2q37 Deletion Syndrome, 47 XYY Syndrome, and Marshall Syndrome.

John De Dios is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Dayton, Ohio. Dr. De Dios is rated as an Advanced provider by MediFind in the treatment of Camptodactyly Taurinuria. He is also highly rated in 104 other conditions, according to our data. His clinical expertise encompasses Ehlers-Danlos Syndrome (EDS), Camptodactyly Taurinuria, Delayed Growth, and Klinefelter Syndrome.