The 20 Best 15q11.2 Microdeletion Doctors Near Me
Find the Top 15q11.2 Microdeletion Experts and Specialists
Johns Hopkins Outpatient Center
Dr. Habela completed a Medical Scientist Training Program at the University of Alabama, Birmingham. She received her PhD in Neurobiology in 2008 and her MD in 2010. After medical school, she specialized in child neurology, and completed 2 years of pediatrics residency and 3 years of child neurology residency at the Johns Hopkins Hospital in 2015. She then completed another 2 years of training specifically focused on the diagnosis, characterization and medical and surgical management of patients with epilepsy during an Epilepsy Fellowship at Johns Hopkins. Dr. Habela’s clinic specializes in pediatric neurology and epilepsy. Her clinical focus in on the care of patients with severe epilepsy with or without other neurodevelopmental disorders that have not been easily controlled with medications. She is also focused on the genetic causes of epilepsy and other neurodevelopmental disabilities with the hope that increasing our understanding of the genetic causes of epilepsy and neurodevelopmental disabilities will improve treatment. Dr. Habela’s basic science research is focused on the genetic mechanisms regulating appropriate proliferation, migration and integration of neurons and glial cells in both the prenatal and postnatal developing brain and how aberrations in these processes result in neurodevelopmental disabilities. Her hypothesis is that deregulation of pre and postnatal neurogenesis and synaptogenesis contributes to the behavioral phenotypes observed in many forms of intellectual disability, epilepsy and autism. Her research applies what we know from human genetic studies to basic science studies examining how specific genetic changes alter neurogenesis, synaptogenesis and overall excitation / inhibition balance in laboratory model systems. Her goal is to provide a better understanding of the molecular mechanisms of these processes and, in turn, possibly identify specific targets for disease modifying treatments for epilepsy. Contact for Research Inquiries 600 N. Wolfe Street Meyer 2-147 Baltimore, MD 21287 Phone: (410) 955-9100. Dr. Habela is rated as an Elite provider by MediFind in the treatment of 15q11.2 Microdeletion. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses 15q11.2 Microdeletion, Primary Lateral Sclerosis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Epilepsy, and Endovascular Embolization. Dr. Habela is board certified in American Board Of Psychiatry And Neurology.
Johns Hopkins Outpatient Center
Nicholas Maragakis treats patients with motor neuron diseases, such as amyotrophic lateral sclerosis (ALS). This care is coordinated with the Johns Hopkins Center for ALS Specialty Care, a multidisciplinary clinic with expertise in treating patients with ALS and providing support to their caregivers. He serves as medical director of the ALS Clinical Trials Unit, an extension of the multidisciplinary clinic that seeks to facilitate opportunities for patients with ALS to participate in clinical trials that could advance the treatment of this disease. Dr. Maragakis is interested in the basic science of understanding neurodegenerative diseases, as well as the translational potential of therapeutic compounds developed in the laboratory. His fundamental research interest is in using stem cells — more specifically, stem cell-derived motor neurons and glia — for understanding the development and propagation of ALS. His laboratory has been involved in creating and characterizing lines of stem cells from patients with ALS using induced pluripotent stem cell (iPSC) methodologies. The laboratory has a large library of iPSCs from patients with familial ALS and from patients with sporadic ALS. The utilization of this library of iPSCs has facilitated the development of a spinal cord-specific iPSC-astrocyte/motor neuron co-culture system, which has been leveraged for the development of assays that can be used for both the basic understanding of ALS astrocyte and motor neuron biology as well as, eventually, drug screening for ALS therapeutics. His laboratory has taken its long-standing interests in astrocyte biology, as it relates to ALS, to develop a program that investigates astrocyte-specific mechanisms as contributors to the progression (both temporally and anatomically) of disease in ALS. In this vein, there is an interest in astrocytic glutamate transporters and, more recently, astrocyte hemichannels and gap junctions. Dr. Maragakis is rated as an Elite provider by MediFind in the treatment of 15q11.2 Microdeletion. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, 15q11.2 Microdeletion, and Spinal Muscular Atrophy (SMA).
Johns Hopkins Outpatient Center
Arens Taga is a neurologist specializing in neuromuscular diseases, with a particular focus on amyotrophic lateral sclerosis (ALS) and other motor neuron diseases. His clinical work aims to improve the quality of care for patients with ALS through biomarker-based, precision medicine approaches that refine disease stratification and facilitate more targeted and efficient enrollment in clinical trials. As a clinician-scientist, Dr. Taga uses patient-derived induced pluripotent stem cells to model ALS, uncover novel disease mechanisms and identify therapeutic targets that are translatable to clinical trials. In recognition of his work in ALS, Dr. Taga was awarded the 2025 Richard Olney Clinician Scientist Development Award, which honors early-career physician-scientists dedicated to advancing ALS research. Dr. Taga earned his medical degree from the School of Medicine and Surgery at the University of Parma, Italy, where he also completed his neurology residency. He subsequently trained at The Johns Hopkins University, completing a postdoctoral research fellowship in the neuromuscular division, an internal medicine internship, a neurology residency and a neuromuscular clinical fellowship. Dr. Taga is rated as an Elite provider by MediFind in the treatment of 15q11.2 Microdeletion. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses 15q11.2 Microdeletion, Primary Lateral Sclerosis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), and Cluster Headache. Dr. Taga is board certified in American Board Of Psychiatry And Neurology.
ETSU Physicians & Associates- Pediatrics
. Dr. Anand is rated as an Advanced provider by MediFind in the treatment of 15q11.2 Microdeletion. She is also highly rated in 18 other conditions, according to our data. Her clinical expertise encompasses Pulmonary Supravalvular Stenosis, Pulmonary Valve Stenosis, Patent Ductus Arteriosus, and Familial Dilated Cardiomyopathy. Dr. Anand is board certified in American Board Of Pediatrics.
Chih-ping Chen practices practicing medicine in Taiwan. Chen is rated as an Elite expert by MediFind in the treatment of 15q11.2 Microdeletion. They are also highly rated in 127 other conditions, according to our data. Their clinical expertise encompasses Trisomy 14 Mosaicism, Hygroma Cervical, Mosaicism, and Mosaic Trisomy 8.
Merlin Butler is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Kansas City, Kansas. Dr. Butler is rated as an Elite provider by MediFind in the treatment of 15q11.2 Microdeletion. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Prader-Willi Syndrome, Hypotonia, 15q11.2 Microdeletion, Hormone Replacement Therapy (HRT), and Sleeve Gastrectomy. Dr. Butler is currently accepting new patients.
ETSU Physicians & Associates- Pediatrics
. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of 15q11.2 Microdeletion. 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.
St. Christopher's Pediatric Associates Radiology - E. Erie Avenue
. Dr. Webb is rated as an Experienced provider by MediFind in the treatment of 15q11.2 Microdeletion. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Familial Porencephaly, Choroid Plexus Cyst, Arachnoid Cysts, and Aseptic and Alopecic Nodules of Scalp (AANS). Dr. Webb is board certified in American Board Of Radiology.
St. Christopher's Pediatric Associates Genetics - E. Erie Avenue
. Dr. Narumanchi is rated as an Advanced provider by MediFind in the treatment of 15q11.2 Microdeletion. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Narumanchi is board certified in American Board Of Medical Genetics And Genomics.
St. Christopher's Pediatric Associates Pulmonary & Allergy - E. Erie Avenue
. Dr. Ramprasad is rated as an Experienced provider by MediFind in the treatment of 15q11.2 Microdeletion. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Asthma, Asthma in Children, Congenital Pulmonary Lymphangiectasia, and Congenital Central Hypoventilation Syndrome. Dr. Ramprasad is board certified in American Board Of Pediatrics.
OSF Saint Katharine - Pediatrics
Deborah Gortowski is a Nurse Practitioner practicing medicine in Dixon, Illinois. Ms. Gortowski is rated as an Experienced provider by MediFind in the treatment of 15q11.2 Microdeletion. Her clinical expertise encompasses Vascular Birthmark, Chronic Rhinosinusitis with Nasal Polyps (CRSwNP), Distal 18q Deletion Syndrome, and 15q11.2 Microdeletion. Ms. Gortowski is board certified in Pediatric Nursing Certification Board.
St. Christopher's Pediatric Associates Neurology - E. Erie Avenue
. Ms. Tiffany is rated as an Experienced provider by MediFind in the treatment of 15q11.2 Microdeletion. Her clinical expertise encompasses Distal 18q Deletion Syndrome, 15q11.2 Microdeletion, and Jacobsen Syndrome. Ms. Tiffany is board certified in American Nurses Credentialing Center.
St. Christopher's Pediatric Associates Gastroenterology - E. Erie Avenue
. Dr. Toor is rated as an Experienced provider by MediFind in the treatment of 15q11.2 Microdeletion. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Delayed Growth, Lactose Intolerance, Tenesmus, and Encopresis. Dr. Toor is board certified in American Board Of Pediatrics.
Eye Consultants Of Pennsylvania PC
. Dr. Goldberg is rated as an Experienced provider by MediFind in the treatment of 15q11.2 Microdeletion. He is also highly rated in 35 other conditions, according to our data. His clinical expertise encompasses Strabismus, Esotropia, Blocked Tear Duct, and Entropion. Dr. Goldberg is board certified in American Board Of Ophthalmology.
St. Christopher's Pediatric Associates - Heacock Rd
. Dr. Kumar is rated as an Experienced provider by MediFind in the treatment of 15q11.2 Microdeletion. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Obesity in Children, Hypertension, Delayed Growth, Vitrectomy, and Angioplasty. Dr. Kumar is board certified in American Board Of Pediatrics.
St. Christopher's Pediatric Associates Endocrinology - E. Erie Avenue
. Dr. Marinescu is rated as an Experienced provider by MediFind in the treatment of 15q11.2 Microdeletion. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Precocious Puberty, Short Stature (Growth Disorders), Idiopathic Short Stature (ISS), and Familial Short Stature (FSS). Dr. Marinescu is board certified in American Board Of Pediatrics.
Physical Medicine And Rehabilitation At Village Pointe Health Center
Samuel Bierner is a Physiatrist practicing medicine in Omaha, Nebraska. He has been practicing medicine for over 43 years. Dr. Bierner is rated as an Experienced provider by MediFind in the treatment of 15q11.2 Microdeletion. His clinical expertise encompasses Subarachnoid Hemorrhage, Stroke, Chronic Subdural Hematoma, Subdural Hematoma, and Gastrostomy.
TriHealth Physician Associates Of Good Samaritan - Delhi
Joseph Huschart is a primary care provider, practicing in Internal Medicine in Cincinnati, Ohio. He has been practicing medicine for over 33 years. Dr. Huschart is rated as a Distinguished provider by MediFind in the treatment of 15q11.2 Microdeletion. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Diabetic Hyperglycemic Hyperosmolar Syndrome, Jacobsen Syndrome, Distal 18q Deletion Syndrome, and 15q11.2 Microdeletion. Dr. Huschart is board certified in American Board Of Internal Medicine - 1996. Dr. Huschart is currently accepting new patients.
Midwest Orthopaedic Consultants, SC
Michal Szczodry is an Orthopedics provider practicing medicine in Orland Park, Illinois. Dr. Szczodry is rated as an Advanced provider by MediFind in the treatment of 15q11.2 Microdeletion. He is also highly rated in 28 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Sciatica, 15q11.2 Microdeletion, Microdiscectomy, and Herniated Disc Surgery. Dr. Szczodry is board certified in American Board Of Orthopaedic Surgery.
Pediatric Ophthalmology Of Erie, Inc
Nicholas Sala is an Ophthalmologist practicing medicine in Erie, Pennsylvania. Dr. Sala is rated as an Advanced provider by MediFind in the treatment of 15q11.2 Microdeletion. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Strabismus, Esotropia, Amblyopia, and Chalazion. Dr. Sala is board certified in American Osteopathic Board Of Ophthalmology & Otolaryngology.
Last Updated: 04/28/2026














