. Dr. Brummel is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. His top areas of expertise are Pelvic Floor Dysfunction, Chronic Obstructive Pulmonary Disease (COPD), Type 2 Diabetes (T2D), and Lung Metastases.

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 Fibrous Tissue Hyperplasia Skeletal Dysplasia. His top areas of expertise are Epicanthal Folds, Strabismus, Brown Syndrome, and Hypotonia.

Kevin Schendel is a primary care provider, practicing in Internal Medicine in Lafayette, Indiana. Dr. Schendel is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. His top areas of expertise are Hypothyroidism, Obesity in Children, Umbilical Hernia, Endoscopy, and Ureteroscopy. Dr. Schendel is currently accepting new patients.

Kenneth Wells is a primary care provider, practicing in Family Medicine in Jamestown, Rhode Island. Dr. Wells is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. His top areas of expertise are Total Anomalous Pulmonary Venous Return, Chronic Pain, COVID-19, and Maturity Onset Diabetes of the Young.

Jerry Whetzel is a primary care provider, practicing in Family Medicine in Portland, Indiana. Dr. Whetzel is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. His top areas of expertise are Familial Hypertension, Hypertension, Glucocorticoid-Remediable Aldosteronism, and Maturity Onset Diabetes of the Young. Dr. Whetzel is currently accepting new patients.

Robert Luebbers is a primary care provider, practicing in Family Medicine in Burlington, Vermont. Dr. Luebbers is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. His top areas of expertise are Sciatica, Scoliosis, Movement Disorders, and Parkinson's Disease.

Juana Gonzalez-Aguirre is a primary care provider, practicing in Internal Medicine in Concord, California. Dr. Gonzalez-Aguirre is rated as a Distinguished provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. Her top areas of expertise are Trichorhinophalangeal Syndrome Type 1 (TRPS1), VACTERL Association, Acro-Pectoro-Renal Field Defect, and Sirenomelia.

Richard Lords is a primary care provider, practicing in Internal Medicine in Brockton, Massachusetts. Dr. Lords is rated as a Distinguished provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. His top areas of expertise are Type 1 Diabetes (T1D), ADULT Syndrome, Bartsocas-Papas Syndrome, and Acropectoral Syndrome. Dr. Lords is currently accepting new patients.

Avantica Gondi is a primary care provider, practicing in Family Medicine in Lakeland, Florida. Dr. Gondi is rated as an Advanced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. Her top areas of expertise are Acropectoral Syndrome, Adams-Oliver Syndrome, Trichorhinophalangeal Syndrome Type 1 (TRPS1), and Bartsocas-Papas Syndrome.

Edwin Cabrera is a primary care provider, practicing in Family Medicine in San Diego, California. Dr. Cabrera is rated as an Advanced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. His top areas of expertise are Acropectoral Syndrome, Thrombocytopenia-Absent Radius Syndrome, Collins Pope Syndrome, and VACTERL Association.

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 Fibrous Tissue Hyperplasia Skeletal Dysplasia. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

Nicholas Kipreos is a primary care provider, practicing in Family Medicine in Mount Airy, North Carolina. Dr. Kipreos has been practicing medicine for over 36 years and is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. His top areas of expertise are Coronary Heart Disease, Childhood Iron Deficiency Anemia, Urinary Tract Infection in Children, and Urinary Tract Infection (UTI).

Neal Emery is a primary care provider, practicing in Pediatrics and Internal Medicine in Wilmington, Delaware. Dr. Emery is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. His top areas of expertise are Cerebral Palsy, Autism Spectrum Disorder, Down Syndrome, and Sickle Cell Disease.

Steven Kohl is a primary care provider, practicing in Family Medicine in Redford, Michigan. Dr. Kohl is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. His top areas of expertise are Osteogenesis Imperfecta, Cirrhosis, Familial Combined Hyperlipidemia, and Xanthoma.

Charmaine Wright is a primary care provider, practicing in Internal Medicine and Pediatrics in Wilmington, Delaware. Dr. Wright is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. Her top areas of expertise are Cerebral Palsy, Sickle Cell Disease, Autism Spectrum Disorder, and Down Syndrome.

Linda Rossetti is a Pediatrics specialist and a Medical Genetics provider in Grand Rapids, Michigan. Dr. Rossetti has been practicing medicine for over 10 years and is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. Her top areas of expertise are Smith-Magenis Syndrome, Miller-Dieker Syndrome, Chromosome 6q Duplication, and Chromosome 8p Deletion.

Mary Stephens is a primary care provider, practicing in Pediatrics in Philadelphia, Pennsylvania. Dr. Stephens is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. Her top areas of expertise are Down Syndrome, Autism Spectrum Disorder, Cerebral Palsy, and Moebius Syndrome. Dr. Stephens is currently accepting new patients.

Amy Hollen is a primary care provider, practicing in Family Medicine in Grand Rapids, Michigan. Dr. Hollen is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. Her top areas of expertise are Generalized Anxiety Disorder (GAD), Seasonal Affective Disorder (SAD), Diabetic Nephropathy, and Type 2 Diabetes (T2D).

Sheri Peterson-Buckley, MD, is a board-certified family medicine physician offering patient-focused primary care for individuals of all ages, with a special interest in preventive medicine and chronic disease management. She strives to build strong relationships with patients and their families to address their overall physical, mental and social health.Dr. Peterson-Buckley is a member of the American Board of Family Medicine and American Academy of Family Physicians.Away from work, Dr. Peterson-Buckley enjoys spending time with family, walking her dogs, crafting and reading. Dr. Peterson is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. Her top areas of expertise are Type 2 Diabetes (T2D), Osteomyelitis in Children, Maturity Onset Diabetes of the Young, and High Cholesterol.

Jose Lozano is a primary care provider, practicing in Internal Medicine in Fort Worth, Texas. Dr. Lozano is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. His top areas of expertise are Obesity, Obesity in Children, Glucocorticoid-Remediable Aldosteronism, Parathyroidectomy, and Sleeve Gastrectomy.