SLCH Consortium Medical Genetics and Genomics/Pediatrics

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

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

Physician

Medical genetics / clinical genetics (m.d.) physician at University of Kansas School of Medicine

Resident (Class of 2027)

Medical Genetics and Genomics/Pediatrics resident, Washington University/B-JH/SLCH Consortium

Resident (Class of 2028)

Medical Genetics and Genomics/Pediatrics resident, Washington University/B-JH/SLCH Consortium

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

Resident (Class of 2030)

Medical Genetics and Genomics/Pediatrics resident, Washington University/B-JH/SLCH Consortium

Resident (Class of 2028)

Medical Genetics and Genomics/Pediatrics resident, 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

Resident (Class of 2029)

Medical Genetics and Genomics/Pediatrics resident, Washington University/B-JH/SLCH Consortium

Physician

Undefined physician type (specify) physician at Icahn School of Medicine at Mount Sinai

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

Resident (Class of 2029)

Medical Genetics and Genomics/Pediatrics resident, Washington University/B-JH/SLCH Consortium

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

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

Intellectual Disability, Developmental Delay, Missense, Neurodevelopmental Disorders