Associated Papers
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
38800615 (PubMed )
Supplement: mmc2.xlsx › P4-X_hemiz.
A Rab-bit hole: Rab40 GTPases as new regulators of the actin cytoskeleton and cell migration.
Neumann AJ et al.
Frontiers in Cell and Developmental Biology, 2023
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle_without_known
Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.
Bianco AM et al.
Molecular Medicine Reports, 2015
A novel 47.2 Mb duplication on chromosomal bands Xq21.1-25 associated with mental retardation.
Jin Z et al.
Gene, 2015
A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.
Ołdak M et al.
European Journal of Pediatrics, 2015
Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.
Ołdak M et al.
Human Mutation, 2014
Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report.
Lee J et al.
European Journal of Pediatrics, 2014
Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.
Bedoyan JK et al.
Journal of Medical Genetics, 2012
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