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Hereditary (partial) epilepsy panel
The hereditary (partial) epilepsy panel is a comprehensive gene panel of the key genes linked to heritable partial (focal) epilepsy. Partial epilepsy (also referred to as focal epilepsy) specifically refers to epilepsy…
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Marfan, Loeys-Dietz syndrome and related disorders panel
Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), Ehlers-Danlos syndrome (EDS) and related disorders are all heritable connective-tissue disorders (HCTD). Many genes have been identified as a cause of a HCTD, most…
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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…