The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

Craig L. Bennett, Jacinda R. Christie, Fred Ramsdell, +7

Nature Genetics

Autoimmune DiseaseDisease MechanismGenetic DisorderGeneticsPathogenesis +10

DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh, +16

The American Journal of Human Genetics

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisGenetic DisorderNatural SciencesGenetics +6

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

Phillip F. Chance, M. Kathryn Alderson, Kathleen A. Leppig, +7

Cell

Hereditary NeuropathyRare DiseasesGenetic DisorderMedicineGenetics +6

Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

Kiyoshi Hayasaka, Masato Himoro, Wataru Sato, +6

Nature Genetics

Neurodegenerative DiseasesPeripheral NervesGenetic DisorderMedicineGenetics +6

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

Phillip F. Chance, Nacer Abbas, M. William Lensch, +4

Human Molecular Genetics

Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A

Norisada Matsunami, Brooke Smith, L. Ballard, +8

Nature Genetics

Mendelian DisorderGenetic DisorderGeneticsMolecular GeneticsCharcot–marie–tooth 1A +5

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Gregor Kuhlenbäumer, Mark Hannibal, Eva Nelis, +24

Nature Genetics

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisMolecular NeuroscienceGenetic DisorderGenetics +6

The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome

Melissa A. Parisi, Craig L. Bennett, Melissa Eckert, +7

The American Journal of Human Genetics

Developmental BiologyMendelian DisorderJoubert SyndromeGenetic DisorderGenetics +3

Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

Benjamin B. Roa, P. James B. Dyck, Harold G. Marks, +2

Nature Genetics

Mendelian DisorderNeurological DisorderGenetic DisorderGeneticsPoint Mutation +7

A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome

Craig L. Bennett, Mary E. Brunkow, Fred Ramsdell, +6

Immunogenetics

Transcriptional RegulationMendelian DisorderGenetic DisorderGeneticsPathology +7