SLCH Consortium Medical Biochemical Genetics

Program Director

Clinical genetics physician, Professor of Pediatrics at Washington University/B-JH/SLCH Consortium

Intellectual Disability, Developmental Delay, Missense, Neurodevelopmental Disorders

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

Faculty

Associate Professor of Pediatrics at Washington University/B-JH/SLCH Consortium

Phosphotransferase, Kinase, GlcNAc-1-phosphotransferase, Enzyme

Faculty

Clinical genetics and genomics physician, Assistant Professor of Pediatrics at Washington University/B-JH/SLCH Consortium

Neurodevelopmental Disorders, Intellectual Disability, Genetics, Pathogenic Variants

Faculty

Clinical genetics physician, Professor of Pediatrics at Washington University/B-JH/SLCH Consortium

Phenylketonuria, Missense, Cant, Dysplasia

Faculty

Pediatrician, Assistant Professor of Pediatrics at Washington University/B-JH/SLCH Consortium

Missense, Neurodevelopmental Disorders, Intellectual Disability, Undiagnosed Diseases Network

Faculty

Associate Professor of Pediatrics at Washington University/B-JH/SLCH Consortium

Faculty

Clinical biochemical genetics physician, Assistant Professor of Pediatrics at Washington University/B-JH/SLCH Consortium

Genetic Testing, Neurodevelopmental Disorders, Early Treatment, Clinical Presentation

Faculty

Assistant Professor of Pediatrics at Washington University/B-JH/SLCH Consortium

Malin, Ubiquitin Ligase, Lafora Disease, Gene Therapy

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

Faculty

Professor of Pediatrics at Washington University/B-JH/SLCH Consortium

Neuronal Ceroid Lipofuscinosis, Mouse Model, Batten Disease, Juvenile Neuronal Ceroid Lipofuscinosis

Faculty

Clinical genetics and genomics physician, Assistant Professor of Pediatrics at Washington University/B-JH/SLCH Consortium

Neurodevelopmental Disorders, Intellectual Disability, Genetics, Missense

Faculty

Instructor in Pediatrics at Washington University/B-JH/SLCH Consortium

Mouse Model, Behavior (Neuroscience), Neuronal Ceroid Lipofuscinosis, CLN1 Disease

Faculty

Clinical genetics and genomics physician, Assistant Professor of Pediatrics at Washington University/B-JH/SLCH Consortium

Pathogenic Variants, Congenital Hypothyroidism, Newborn Screening, United States

Faculty

Professor of Pediatrics at Washington University/B-JH/SLCH Consortium

Transcription Factor EB, Transcription Factors, Lysosome, Biogenesis

Faculty

Clinical biochemical genetics physician, Assistant Professor at Washington University/B-JH/SLCH Consortium

Deficiency, Molecular Characterization, Exome Sequencing, Human Genetics

Faculty

Pediatric medicine physician, Assistant Professor of Pediatrics at WashU Medicine

Faculty

Clinical genetics and genomics physician, Instructor in Pediatrics at Washington University/B-JH/SLCH Consortium

Autism, Molecular Characteristics, PPP2CA, Developmental Epilepsy

Faculty

Assistant Professor of Pediatrics at Washington University/B-JH/SLCH Consortium

Synapse, Excitatory Synapse, Small GTPase, RhoA

Faculty

Pediatrics resident, Washington University/B-JH/SLCH Consortium

Faculty

Counselor, Assistant Professor of Pediatrics at Washington University/B-JH/SLCH Consortium

Genetics, Exome Sequencing, Pathogenic Variants, Down Syndrome