Stephen Chanock is a Pediatrics provider in Potomac, Maryland. Dr. Chanock is rated as an Elite provider by MediFind in the treatment of Mosaicism. His top areas of expertise are Mosaicism, Menopause, Gliomatosis Cerebri, Esophageal Cancer, and Hormone Replacement Therapy (HRT).

Selma Amrane, M.D., is board certified in obstetrics and gynecology and reproductive endocrinology and infertility. She specializes in the diagnosis and treatment of infertility, including gynecologic endocrine issues, such as polycystic ovary syndrome, as well as male factor infertility and infertility resulting from endometriosis. She has authored several peer-reviewed publications in topics such as preimplantation genetic testing and in vitro fertilization. Dr. Amrane earned her medical degree from University of Maryland, School of Medicine. After finishing her residency in obstetrics and gynecology at Weill Cornell Medical Center in New York City, she completed a 3-year fellowship in reproductive endocrinology and infertility at Columbia University Medical Center. Dr. Amrane has received several honors, including the Lewis Harriman Douglass Award for Excellence in Obstetrics and Gynecology and the Diversity Scholarship while in medical school. In residency, she was recognized with the Distinguished House Staff Award and with medical student teaching awards. Dr. Amrane has been an advocate for patient access to fertility treatment and has participated in lobbying on Capitol Hill with organizations such as RESOLVE, the National Infertility Association. She is a member of several professional organizations, including the American Society for Reproductive Medicine (ASRM) and the American Congress of Obstetricians and Gynecologists (ACOG). She has also presented her research on multiple gestation and in vitro fertilization at several national meetings. A Maryland native, Dr. Amrane is excited and honored to care for patients from her home state to achieve the goal of growing their families. She is fluent in French and Spanish. In her free time, she enjoys traveling, dancing, and spending time with family. Dr. Amrane is rated as an Experienced provider by MediFind in the treatment of Mosaicism. Her top areas of expertise are Infertility, Sertoli Cell-Only Syndrome, Tubal Disease, and Mosaicism.

Thomas Darling is a Dermatologist in Bethesda, Maryland. Dr. Darling is rated as a Distinguished provider by MediFind in the treatment of Mosaicism. His top areas of expertise are Mosaicism, Acromicric Dysplasia, Linear Hamartoma Syndrome, and Hirsutism in Women.

Leslie Biesecker is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Biesecker is rated as a Distinguished provider by MediFind in the treatment of Mosaicism. His top areas of expertise are Proteus Syndrome, Proteus-Like Syndrome, Acromicric Dysplasia, and Lenz Microphthalmia Syndrome.

Sharon Savage is a Pediatric Hematologist Oncology provider in Bethesda, Maryland. Dr. Savage is rated as a Distinguished provider by MediFind in the treatment of Mosaicism. Her top areas of expertise are Dyskeratosis Congenita, Aplastic Anemia, Aase Syndrome, Bone Marrow Transplant, and Hormone Replacement Therapy (HRT).

Neurologist Payam Mohassel specializes in myopathies, muscular dystrophies, and other hereditary neuromuscular disorders and is the co-director of the Johns Hopkins Myositis Center. Dr. Mohassel obtained his medical degree from the Johns Hopkins University School of Medicine, where he remained for a medical internship, residency training in neurology, and clinical fellowship training in neuromuscular medicine. He then joined the National Institute of Neurological Disorders and Stroke Neurogenetics branch as a clinical research fellow. Dr. Mohassel’s research focuses on translational studies on neuromuscular disorders, and it spans gene discovery efforts, mechanistic studies to identify therapeutic targets, and early phase interventional clinical trials. Dr. Mohassel is rated as an Experienced provider by MediFind in the treatment of Mosaicism. His top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Hereditary Sensory Neuropathy Type 1 (HSN1), and Hereditary Sensory and Autonomic Neuropathy Type 2.

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 Mosaicism. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

Dr. Kristin M. Arcara completed her undergraduate studies at SUNY Buffalo, and received her medical degree from SUNY Upstate Medical University. She then completed her residency in pediatrics at the Johns Hopkins Hospital, spending an additional year serving as Chief Resident. She also completed a fellowship in pediatric endocrinology at the Johns Hopkins Hospital. Dr. Arcara has been a faculty member in the Division of Pediatric Endocrinology at Johns Hopkins since 2014. After her fellowship, Dr. Arcara spent one year as a Pediatric Endocrinologist at Children’s National Medical Center before returning to Johns Hopkins Hospital. Dr. Arcara’s clinical activities include heading a multidisciplinary Pediatric Diabetes clinic at Mt. Washington Pediatric Hospital, consisting of certified diabetes educators, registered dietitian and a team of psychologists with extensive training and expertise in the unique issues surrounding management of diabetes in children. She also has general pediatric endocrine clinics in which she evaluates and treats a variety of disorders including short stature, abnormal pubertal development, thyroid disorders, polycystic ovary syndrome, hypopituitarism, diabetes insipidus, pituitary adenoma, congenital adrenal hyperplasia and disorders of sexual differentiation, Turner syndrome and Prader Willi syndrome among others. Dr. Arcara is a member of Mt. Washington Pediatric Hospital’s multidisciplinary Prader Willi Syndrome clinic. Dr. Arcara is rated as an Experienced provider by MediFind in the treatment of Mosaicism. Her top areas of expertise are Type 1 Diabetes (T1D), Turner Syndrome, Mixed Gonadal Dysgenesis, and Short Stature (Growth Disorders).

Anita Madison is an Obstetrics and Gynecologist in Lutherville, Maryland. Dr. Madison is rated as an Experienced provider by MediFind in the treatment of Mosaicism. Her top areas of expertise are Ectopic Pregnancy, Turner Syndrome, Mosaicism, Intersex, and Tubal Ligation.

Dr. Angie Jelin is the assistant director of prenatal genetics at the Prenatal Diagnostic Center in the Division of Maternal-Fetal Medicine and an assistant professor in the Johns Hopkins Medicine Department of Gynecology and Obstetrics. Her areas of clinical expertise include prenatal genetic counseling, fetal imaging, chorionic villus sampling and amniocentesis, with a focus on fetal complications in pregnancy. Dr. Jelin earned her medical degree from Harvard Medical School. She did her residency in obstetrics and gynecology at the University of California, San Francisco, and then remained there to complete a maternal-fetal medicine and genetics fellowship. In 2015, Dr. Jelin joined the Johns Hopkins faculty, at which time she also received a Building Interdisciplinary Research Careers in Women’s Health grant to study fetal genetic disorders. Dr. Jelin’s research involves fetal imaging and genetic diagnoses, including whole exome sequencing. Dr. Jelin is a member of the American College of Obstetricians and Gynecologists, the Society of Maternal-Fetal Medicine and the International Society of Prenatal Diagnosis. She currently serves on the IRB committee of the American Board of Obstetrics and Gynecology. Dr. Jelin has published many articles in obstetrics and maternal-fetal medicine journals. Dr. Jelin is rated as an Experienced provider by MediFind in the treatment of Mosaicism. Her top areas of expertise are Polyhydramnios, Bilateral Renal Agenesis Dominant Type, Lung Agenesis, and Atresia of Small Intestine.

Constantine Stratakis is a Medical Genetics specialist and a Gastroenterologist in Bethesda, Maryland. Dr. Stratakis is rated as an Advanced provider by MediFind in the treatment of Mosaicism. His top areas of expertise are Cushing's disease, Neuroendocrine Tumor, Gastrointestinal Stromal Tumor, Orchiectomy, and Hormone Replacement Therapy (HRT).

Dr. George Capone is an associate professor of pediatrics at the Johns Hopkins University School of Medicine. Dr. Capone is committed to research that explores the neurobiologic basis of cognitive impairment and co-morbid neurobehavioral and psychiatric disorders associated with Down syndrome. He is also a research scientist and director of the Down Syndrome Clinic and Research Center (DSCRC) at Kennedy Krieger Institute, as well as an attending physician on the institute’s comprehensive rehabilitation unit. Dr. Capone attended college at Wesleyan University and worked as a research assistant at the Dana Farber Cancer Institute in Boston before obtaining his medical degree from the University of Connecticut in 1983. After a residency and fellowship in pediatrics at the Children''s Hospital Medical Center in Cincinnati, Dr. Capone came to Baltimore in 1988 to pursue a fellowship in neurobiology research at Johns Hopkins. Dr. Capone is rated as an Experienced provider by MediFind in the treatment of Mosaicism. His top areas of expertise are Autism Spectrum Disorder, Trisomy 12 Mosaicism, Mosaicism, and Celiac Disease.

Mara Rosner is an Obstetrics and Gynecologist in Baltimore, Maryland. Dr. Rosner is rated as an Experienced provider by MediFind in the treatment of Mosaicism. Her top areas of expertise are Twin-To-Twin Transfusion Syndrome, Asherman Syndrome, Intrauterine Growth Restriction, Hydrops Fetalis, and Endoscopy.

Dr. Garry R. Cutting is a Professor of Pediatrics and Medicine in the McKusick-Nathans Institute of Genetic Medicine of the Johns Hopkins University School of Medicine. He is the Aetna/U.S. Healthcare Professor of Medical Genetics at Johns Hopkins. Dr. Cutting received his undergraduate degree in biology and medical degree from the University of Connecticut. He completed residency training in pediatrics and a fellowship in medical genetics at the Johns Hopkins University School of Medicine. Dr. Cutting is the Medical Director of the DNA Diagnostic Laboratory of Johns Hopkins Genomics. He directed the Medical Genetics Residency Program at Hopkins from 1995 to 2004. Dr. Cutting is the recipient of the Paul di Sant’Agnese Distinguished Scientific Achievement Award from the Cystic Fibrosis Foundation and a MERIT award from the National Institutes of Health. He has published more than 160 peer-reviewed articles. Dr. Cutting was elected to the Society of Pediatric Research (1992), the American Society of Clinical Investigation (1995) and the Association of American Physicians (2017). Dr. Cutting’s primary interests lie in the interpretation of DNA variation and their effect upon human phenotypes. Dr. Cutting’s lab focuses on the effect of common and rare variants in the CFTR gene that cause the single gene disorder cystic fibrosis (CF). His lab operates the CFTR2 database, a resource composed of clinical and genetic data on almost 90,000 individuals with CF world-wide. His laboratory also studies the effect of clinically approved and novel modulators upon CFTR protein bearing disease-causing variants. Dr. Cutting’s laboratory is also leader in the identification and characterization of genetic modifiers of cystic fibrosis. His group is currently collaborating with teams at the University of North Carolina and the University of Washington, Seattle to identify common and rare modifier variants of disease severity by whole genome sequencing of 5200 individuals with CF. Dr. Cutting participates in the clinical translation of variant interpretation as the Medical Director of the DNA Diagnostic Laboratory at Johns Hopkins. Finally, as Editor of the journal Human Mutation Dr. Cutting oversees the review and publication of manuscripts reporting the mechanism, distribution and phenotype consequences of variation in our genomes. Dr. Cutting is rated as an Experienced provider by MediFind in the treatment of Mosaicism. His top areas of expertise are Exocrine Pancreatic Insufficiency, Sjogren-Larsson Syndrome, Coffin-Siris Syndrome, and Meier-Gorlin Syndrome.

Maximilian Muenke is a Medical Genetics provider in Bethesda, Maryland. Dr. Muenke is rated as an Advanced provider by MediFind in the treatment of Mosaicism. His top areas of expertise are Holoprosencephaly, Turner Syndrome, Craniosynostosis, and Corpus Callosum Agenesis.

William Gahl is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Gahl is rated as an Advanced provider by MediFind in the treatment of Mosaicism. His top areas of expertise are Oculocutaneous Albinism Type 2, Hermansky-Pudlak Syndrome, Oculocutaneous Albinism Type 1, Oculocutaneous Albinism, and Deep Brain Stimulation.

Jaclyn Murry is a Medical Genetics provider in Baltimore, Maryland. Dr. Murry is rated as an Advanced provider by MediFind in the treatment of Mosaicism. Her top areas of expertise are Mosaicism, Turner Syndrome, and Intersex.

Joan Marini is a Medical Genetics provider in Bethesda, Maryland. Dr. Marini is rated as an Experienced provider by MediFind in the treatment of Mosaicism. Her top areas of expertise are Osteogenesis Imperfecta, Kyphomelic Dysplasia, Congenital Bowing of Long Bones, and Brachydactyly Mononen Type.

Edward Cowen is a Dermatologist in Rockville, Maryland. Dr. Cowen is rated as an Experienced provider by MediFind in the treatment of Mosaicism. His top areas of expertise are Chronic Graft Versus Host Disease (cGvHD), Graft Versus Host Disease (GvHD), Splinter Hemorrhages, and Birt-Hogg-Dube Syndrome. Dr. Cowen is currently accepting new patients.

Brigitte Widemann is a Pediatric Hematologist Oncology provider in Bethesda, Maryland. Dr. Widemann is rated as an Experienced provider by MediFind in the treatment of Mosaicism. Her top areas of expertise are Neurofibromatosis Type 1 (NF1), Neurofibromatosis, Malignant Peripheral Nerve Sheath Tumor, Adult Soft Tissue Sarcoma, and Thyroidectomy.