The 20 Best Chromosome 12p Deletion Doctors Near Me

. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Chromosome 12p Deletion. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.

. Dr. Narumanchi is rated as an Advanced provider by MediFind in the treatment of Chromosome 12p Deletion. His top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, and Maternal Hyperphenylalaninemia.

Erica Fernandes is a Medical Genetics specialist and a Pediatrics provider in New Hyde Park, New York. Dr. Fernandes is rated as an Advanced provider by MediFind in the treatment of Chromosome 12p Deletion. Her top areas of expertise are Microcephaly, Chromosome 13q Deletion, Bowen-Conradi Syndrome, and Floating-Harbor Syndrome.

. Dr. Melnyk is rated as an Experienced provider by MediFind in the treatment of Chromosome 12p Deletion. His top areas of expertise are Ehlers-Danlos Syndrome (EDS), Musculocontractural Ehlers-Danlos Syndrome (mcEDS), Jacobsen Syndrome, and Chromosome 6q Deletion.

Ulrike Bacher practices in Goettingen, Germany. Ms. Bacher is rated as a Distinguished expert by MediFind in the treatment of Chromosome 12p Deletion. Her top areas of expertise are Acute Myeloid Leukemia (AML), Myelodysplastic Syndrome (MDS), Chromosome 12p Deletion, Bone Marrow Transplant, and Vitrectomy.

Nashwa Khazragy-El practices in Cairo, Egypt. Ms. Khazragy-El is rated as a Distinguished expert by MediFind in the treatment of Chromosome 12p Deletion. Her top areas of expertise are Chromosome 12p Deletion, Unstable Angina, Angina, and Acute Lymphoblastic Leukemia (ALL).

Luis Umana is a Medical Genetics specialist and a Pediatrics provider in Dallas, Texas. Dr. Umana is rated as an Advanced provider by MediFind in the treatment of Chromosome 12p Deletion. His top areas of expertise are Classic Galactosemia, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Biotinidase Deficiency, and Argininosuccinic Aciduria.

Angela Scheuerle is a Pediatrics specialist and a Medical Genetics provider in Dallas, Texas. Dr. Scheuerle is rated as an Advanced provider by MediFind in the treatment of Chromosome 12p Deletion. Her top areas of expertise are Hennekam Syndrome, Fetal Akinesia Sequence, Hemihyperplasia, and Incontinentia Pigmenti.

Carolyn Jones is a Medical Genetics provider in Winfield, Illinois. Dr. Jones has been practicing medicine for over 35 years and is rated as an Advanced provider by MediFind in the treatment of Chromosome 12p Deletion. Her top areas of expertise are Fabry Disease, Megalencephalic Leukoencephalopathy with Subcortical Cysts, Multiple Sulfatase Deficiency, and Pompe Disease.

Nina Powell is a Pediatrics specialist and a Medical Genetics provider in Newark, Delaware. Dr. Powell is rated as an Advanced provider by MediFind in the treatment of Chromosome 12p Deletion. Her top areas of expertise are Microcephaly, PIK3CA-Related Overgrowth Spectrum, Chromosome 13q Deletion, and Increased Head Circumference.

Peter Hulick, MD, a clinical geneticist and chair of personalized medicine at Endeavor Health, helps patients understand how genomic information can inform care and improve health outcomes. With a career rooted in genetics since high school, he works to integrate genomic data into everyday decision-making for patients and clinicians. Dr. Hulick focuses on risk assessment, early detection and treatment guidance by combining science, patient context and team collaboration. He also leads efforts to make genomic care more accessible across the health system. Dr. Hulick is rated as an Experienced provider by MediFind in the treatment of Chromosome 12p Deletion. His top areas of expertise are Ehlers-Danlos Syndrome (EDS), Ring Chromosome 12, Retinopathy Pigmentary Mental Retardation, and BRCA Positive Breast Cancer.

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 Chromosome 12p Deletion. Her top areas of expertise are Smith-Magenis Syndrome, Miller-Dieker Syndrome, Chromosome 6q Duplication, and Chromosome 8p Deletion.

Theresa Grebe is a Pediatrics provider in Phoenix, Arizona. Dr. Grebe is rated as an Experienced provider by MediFind in the treatment of Chromosome 12p Deletion. Her top areas of expertise are Chromosome 6 Uniparental Disomy, Temple Syndrome, Hypotonia, and Congenital Bowing of Long Bones. Dr. Grebe is currently accepting new patients.

Dr. Hilary Vernon is a Professor of Genetic Medicine and pediatrics at the Johns Hopkins University School of Medicine. She is also an attending physician at Kennedy Krieger Institute. Hilary Vernon has expertise in treating inborn errors of metabolism and mitochondrial disorders. She is the director of the Mitochondrial Care Center at The Johns Hopkins Hospital and the Barth Syndrome Interdisciplinary Clinic at the Kennedy Krieger Institute. Her research interests include understanding intermediary metabolism in Barth syndrome and in disorders of branch chain amino acid metabolism. Dr. Vernon also co-directs the Department of Genetic Medicine Clinical Trials Unit, and is the principal investigator on multiple clinical trials for rare diseases. Dr. Vernon received her medical degree and doctorate from Rutgers University, New Brunswick, New Jersey. She completed residencies in genetics and pediatrics at The Johns Hopkins University, and a fellowship in clinical laboratory biochemical genetics at The Johns Hopkins University. Dr. Vernon was recognized with the 2010 Francis F. Schwentker Award for Excellence in Research at Johns Hopkins University and the 2011 James B. Sidbury Jr. Fellowship in Biochemical Genetics at Johns Hopkins University. Dr. Vernon is rated as an Experienced provider by MediFind in the treatment of Chromosome 12p Deletion. Her top areas of expertise are Methylmalonic Acidemia, Propionic Acidemia, Infantile Neutropenia, Progressive External Ophthalmoplegia, and Gastrostomy.

Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider in Grand Rapids, Michigan. Dr. Priestley has been practicing medicine for over 8 years and is rated as an Experienced provider by MediFind in the treatment of Chromosome 12p Deletion. Her top areas of expertise are Fabry Disease, Biotinidase Deficiency, Ornithine Transcarbamylase Deficiency, and Megalencephalic Leukoencephalopathy with Subcortical Cysts.

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 Experienced provider by MediFind in the treatment of Chromosome 12p Deletion. His top areas of expertise are Epicanthal Folds, Strabismus, Brown Syndrome, and Hypotonia.

Dr. Joann Bodurtha is a professor of genetic medicine, pediatrics, and oncology at the Johns Hopkins University School of Medicine. Dr. Bodurtha is co-director of the regional genetics network NYMAC, co-director of the Biological Mechanisms theme in the Genes to Society Curriculum, co-director of the BIRCWH Advisory Board, Physician Advisor for the Dept. of Genetic Medicine, a member of the Advisory Committee of the JH-NHGRI Genetic Counseling program, and a member of the Johns Hopkins Medicine Institutional Review Board. She has appointments in the School of Public Health and School of Nursing. Her research focuses on risk communication and interdisciplinary genetic education. Prior to joining Johns Hopkins, Dr. Bodurtha was a professor of human and molecular genetics at VCU, where she had faculty appointments in the Departments of Pediatrics, Obstetrics-Gynecology, and Preventive Medicine and Community Health. She received her B.A. from Swarthmore College and her M.D. and M.P.H. with honors from Yale. After a year of research at the Nagasaki University School of Medicine as a Luce Scholar, she completed her residency in pediatrics at Children’s Hospital of Philadelphia and worked as a USPHS physician on the Turtle Mountain Chippewa Reservation in North Dakota. She completed her medical genetics fellowship at Virginia Commonwealth University (VCU) in 1987. Dr. Bodurtha joined the Johns Hopkins faculty in 2011. At VCU, Dr. Bodurtha helped start the Masters in Genetic Counseling program in 1990 and the Va-LEND (Leadership Education in Neurodevelopmental Disabilities) program in 1995. She served on the American Academy of Pediatrics Committee on Native American Child Health for ten years. She was the Richmond YMCA Woman of the Year in Science and Medicine in 1997. She received the VCU School of Medicine first Innovation in Teaching Award in 1999, the SCHEV Outstanding Faculty Award in 2006, the Genetic Alliance Art of Listening Award in 2008, the AUCD Professional Achievement Award in 2009, and the VCU WISDM Professional Achievement Award in 2010. A member of the Leadership Metro Richmond Class of 2000, she served as president of the WISDM (Women in Science, Dentistry, and Medicine) organization at VCU from 2000 to 2003. She has written more than 150 scientific articles, book chapters, and reviews and supervised more than 100 graduate students. She is committed to improving access to genetic services and helping make all communities be more welcoming. Dr. Bodurtha is rated as an Experienced provider by MediFind in the treatment of Chromosome 12p Deletion. Her top areas of expertise are Ehlers-Danlos Syndrome (EDS), Micrognathia, Inborn Renal Aminoaciduria, and Blepharophimosis.

Thorsten Schlomm practices in Berlin, Germany. Mr. Schlomm is rated as an Advanced expert by MediFind in the treatment of Chromosome 12p Deletion. His top areas of expertise are Prostate Cancer, Bladder Cancer, Urothelial Cancer, Prostatectomy, and Kidney Transplant.

Lorenz Trumper practices in Goettingen, Germany. Mr. Trumper is rated as an Advanced expert by MediFind in the treatment of Chromosome 12p Deletion. His top areas of expertise are Non-Hodgkin Lymphoma, Peripheral T-Cell Lymphoma, B-Cell Lymphoma, Burkitt Lymphoma, and Bone Marrow Transplant.

Hayley Ron is a Pediatrics provider in Hackensack, New Jersey. Dr. Ron is rated as an Experienced provider by MediFind in the treatment of Chromosome 12p Deletion. Her top areas of expertise are 15q11.2 Microdeletion, Chromosome 12p Deletion, 3p Deletion Syndrome, and Jacobsen Syndrome. She is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.