Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Ingo Kurth, Torsten Pamminger, J. Christopher Hennings, +14

Nature Genetics

Neurobiology Of DiseaseMolecular NeuroscienceCause Severe SensoryGenetic DisorderGenetics +8

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

Annelies Rotthier, Michaela Auer‐Grumbach, Katrien Janssens, +15

The American Journal of Human Genetics

Molecular NeuroscienceMolecular PhysiologyAutonomic Neuropathy TypeGenetic DisorderMendelian Disorder +8

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

Annelies Rotthier, Jonathan Baets, Els De Vriendt, +11

Brain

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

Emma Ashton, Anne Debost‐Legrand, Valérie Benoît, +17

Kidney International

UrologyGenetic DisorderGeneticsRenal PathologyCausative Mutations +7

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults

Marguerite Hureaux, Emma Ashton, Karin Dahan, +16

Kidney International

Molecular Diagnostic TechniquesPathologyMedicineFamilial Hypercalcemia HypocalciuriaMolecular Medicine

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I

Annelies Rotthier, Anke Penno, Bernd Rautenstrauß, +9

Human Mutation

A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated

Thorsten Hornemann, Anke Penno, Garth A. Nicholson, +4

Neurogenetics

Peripheral NervesGenetic DisorderGeneticsG387a MutationPathology +7

Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis

Sara Şebnem Kılıç, Rifatcan Ozturk, Bartu Sarısözen, +3

Neurogenetics

Primary ImmunodeficiencyAutoimmune DiseasePain MedicineMedicineImmunology +6

Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease

Dorien Proost, Johan Saenen, Geert Vandeweyer, +10

Journal of Molecular Diagnostics

BioinformaticsSequencingMedicineGeneticsNext-generation Sequencing +9