Research Areas:
- Adult-onset Polyglucosan Body Disease (APBD)
- Ataxia-Telangiectasia (A-T)
- Beta-propeller Protein-Associated Neurodegeneration (BPAN)/Neurodegeneration with Brain Iron Accumulation Disorder (NBIA) Disorders
- Castleman Disease
- CDKL5 Deficiency Disorder (CDD)
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy/CADASIL
- Choroideremia (CHM)
- Congenital Hyperinsulinism (HI)
- Congenital Muscular Dystrophy (CMD)
- Cohen Syndrome (CS)
- Complex Lymphatic Anomalies (CLA)
- Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS)
- Fibrodysplasia Ossificans Progressiva (FOP)
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- Glucose Transporter 1 Deficiency Syndrome (Glut1DS)
- Lymphangioleiomyomatosis (LAM)
- Maple Syrup Urine Disease (MSUD)
- Mucolipidosis Type IV (ML4)
- Mucopolysaccharidoses (MPS)
- Mucopolysaccharidosis (MPS I) Gene Spotlight
- Neuroendocrine Cell Hyperplasia of Infancy (NEHI)
- Niemann Pick Type C (NPC)
- Nonsense Mutations in Cystic Fibrosis
- NUBPL: A Mitochondrial Disease
- Pitt Hopkins Syndrome (PTHS)
- RASopathies
- SETBP1
- Snyder-Robinson Syndrome (SRS)
- STXBP1 Encephalopathy
- Telomere Biology Disorders, including Dyskeratosis Congenita
- TBCK Syndrome
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