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Bone marrow failure
Bone Marrow Failure is a clinically and genetically heterogeneous collection of diseases affecting hematopoiesis, resulting in reduced or abnormal production of one or more of the three blood cell types (red blood cell,…
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Confirmation of ACER3-related recessive neurodegeneration
Learn more about our recent findings in confirmation of ACER3-related recessive neurodegeneration, and preliminary evidence for feasibility of biochemistry-based ACER3 variant classification.
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Association of hydrocephalus and renal dysplasia
Read more about our recent findings in association of hydrocephalus and renal dysplasia with a homozygous DLG5 frameshit variant in an alternatively spliced exon.
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Novel clinical and genetic insights into dysfunction of the ASC-1 complex
The transcriptional coactivator ASC-1 complex is composed of four subunits ASC-1 (TRIP4), ASCC1 (ASCC1), ASCC2 (ASCC2) and ASCC3 (ASCC3). Read more about novel clinical and genetic insights into dysfunction of the ASC-1…
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Comprehensive dystonia panel
Dystonias are a diverse spectrum of neurological movement conditions characterized by sustained muscle contractions (spasms) causing repetitive twisting movements or abnormal postures. Dystonia can be a chronic and…
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Myeloid tumor panel
Myeloid malignancies are clonal diseases of hematopoietic progenitor cells (cells that are capable of multiplying and producing additional blood cells of a particular lineage) resulting from genetic and epigenetic…
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Familial hypercholesterolemia panel
Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by severe elevations in total cholesterol and low-density lipoprotein cholesterol levels that lead to atherosclerotic plaque deposition…
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Dejerine-Sottas syndrome panel
Dejerine-Sottas syndrome (DSS) is a hereditary neuropathy is a severe phenotype of Charcot-Marie-Tooth disease (CMT). It is characterized by early-onset (first 2 years of life), delayed motor development, slow nerve…
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Spinocerebellar ataxias (SCA) comprehesive panel
Spinocerebellar ataxias (SCA) are a group of hereditary neurological disorders characterized by slowly progressive ataxia accompanied by cerebellar degeneration. Ataxia is gait imbalance associated with limb…
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SMN-negative spinal muscular atrophy panel
Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor neurons associated with progressive muscle weakness and atrophy. The onset of muscle weakness ranges from the prenatal period to…