SLCH Consortium Medical Genetics and Genomics/Pediatrics people | Carlo Med

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SLCH Consortium Medical Genetics and Genomics/Pediatrics people | Carlo Med

Katherine King, MD
Program Director
Clinical genetics and genomics physician, Assistant Professor of Pediatrics at Washington University/B-JH/SLCH Consortium
Pathogenic Variants, Congenital Hypothyroidism, Newborn Screening, United States
Patricia Dickson, MD
Division Chief, Division of Genetics & Genomic Medicine
Clinical genetics physician, Professor of Pediatrics at Washington University/B-JH/SLCH Consortium
Photosystem II, Enzyme Replacement Therapy, Enzyme, Mucopolysaccharidosis 1
Angela Lee, MD
Physician
Medical genetics / clinical genetics (m.d.) physician at University of Kansas School of Medicine
Angie Martinez, MD
Resident (Class of 2027)
Medical Genetics and Genomics/Pediatrics resident, Washington University/B-JH/SLCH Consortium
Ayesha Shaikh, MBBS
Resident (Class of 2028)
Medical Genetics and Genomics/Pediatrics resident, Washington University/B-JH/SLCH Consortium
Balraj Doray, PhD
Faculty
Associate Professor of Pediatrics at Washington University/B-JH/SLCH Consortium
Phosphotransferase, Kinase, GlcNAc-1-phosphotransferase, Enzyme
Catherine Gooch, MD
Faculty
Clinical genetics and genomics physician, Assistant Professor of Pediatrics at Washington University/B-JH/SLCH Consortium
Neurodevelopmental Disorders, Intellectual Disability, Genetics, Pathogenic Variants
Dorothy Grange, MD
Faculty
Clinical genetics physician, Professor of Pediatrics at Washington University/B-JH/SLCH Consortium
Phenylketonuria, Missense, Cant, Dysplasia
Dustin Baldridge, MD, PhD
Faculty
Pediatrician, Assistant Professor of Pediatrics at Washington University/B-JH/SLCH Consortium
Missense, Neurodevelopmental Disorders, Intellectual Disability, Undiagnosed Diseases Network
Eric Greer, MD, PhD
Faculty
Associate Professor of Pediatrics at Washington University/B-JH/SLCH Consortium
Gonench Kilich, MD
Resident (Class of 2030)
Medical Genetics and Genomics/Pediatrics resident, Washington University/B-JH/SLCH Consortium
Grant Austin, MD
Resident (Class of 2028)
Medical Genetics and Genomics/Pediatrics resident, Washington University/B-JH/SLCH Consortium
Hoanh Nguyen, MD
Faculty
Clinical biochemical genetics physician, Assistant Professor of Pediatrics at Washington University/B-JH/SLCH Consortium
Genetic Testing, Neurodevelopmental Disorders, Early Treatment, Clinical Presentation
Hunter Dean, MD, PhD
Resident (Class of 2029)
Medical Genetics and Genomics/Pediatrics resident, Washington University/B-JH/SLCH Consortium
Ibrahim Elsharkawi, MD
Physician
Undefined physician type (specify) physician at Icahn School of Medicine at Mount Sinai
Jaiprakash Sharma, PhD
Faculty
Assistant Professor of Pediatrics at Washington University/B-JH/SLCH Consortium
Malin, Ubiquitin Ligase, Lafora Disease, Gene Therapy
Jennifer Heeley, MD
Faculty
Clinical genetics and genomics physician, Associate Professor of Pediatrics at Washington University/B-JH/SLCH Consortium
Genetics, Exome, Exome Sequencing, Disorders of Sex Development
Jonathan Cooper, PhD
Faculty
Professor of Pediatrics at Washington University/B-JH/SLCH Consortium
Neuronal Ceroid Lipofuscinosis, Mouse Model, Batten Disease, Juvenile Neuronal Ceroid Lipofuscinosis
Jorge De Luque, MD, MSc
Faculty
Clinical genetics and genomics physician, Assistant Professor of Pediatrics at Washington University/B-JH/SLCH Consortium
Neurodevelopmental Disorders, Intellectual Disability, Genetics, Missense
Josh Dearborn, PhD
Faculty
Instructor in Pediatrics at Washington University/B-JH/SLCH Consortium
Mouse Model, Behavior (Neuroscience), Neuronal Ceroid Lipofuscinosis, CLN1 Disease
Madeline Epping, MD, PhD
Resident (Class of 2029)
Medical Genetics and Genomics/Pediatrics resident, Washington University/B-JH/SLCH Consortium
Marco Sardiello, PhD
Faculty
Professor of Pediatrics at Washington University/B-JH/SLCH Consortium
Transcription Factor EB, Transcription Factors, Lysosome, Biogenesis
Maria Lasio, MD
Faculty
Clinical biochemical genetics physician, Assistant Professor at Washington University/B-JH/SLCH Consortium
Deficiency, Molecular Characterization, Exome Sequencing, Human Genetics
Marwan Shinawi, MD
Faculty
Clinical genetics physician, Professor of Pediatrics at Washington University/B-JH/SLCH Consortium
Intellectual Disability, Developmental Delay, Missense, Neurodevelopmental Disorders