All last updates in Medical Genetics, Molecular Diagnostics and “Whole” Technologies.
- Amyloidosis
- Thalassemia
- Galactosemia
- Bartter syndrome
- Turner syndrome (chromosome X monosomy)
- CAVD (Congenital Absence of the Vas Deferens): is it possible to become a father?
- VUS in WES
- Pseudoxanthoma Elasticum
- Congenital defects of bile acid synthesis
- Recurrent pregnancy loss (RPL): definitions and etiology
- Fetal Alcohol Spectrum Disorders and differential diagnosis
- Genetics of male infertility
- Short sleepers: awake after just 6 hours of sleep!
- Low-pass genome sequencing: a new perspective for genome-wide CNV analysis
- CNV analysis: a chimera?
- Start-loss mutations in rare diseases
- Mutation-genetic disease paradigm: a bewitching picture without a frame
- Unraveling uniparental disomy
- Robertsonian translocations: what to do?
- Segmental duplications
- Infertility: genetic causes
- Balanced translocations: what to do?
- What’s the right price for whole exome sequencing?
- Phenotype expansion in rare disorders
- Turnaround time in genetic testing for rare disorders
- Mental retardation: panel or whole exome sequencing?
- Semi-dominance and rare disorders
- Small and large mutations: how do we sail among different mutation sizes?
- Bed files in Next Generation Sequencing
- Non-coding exons in the diagnosis of rare disorders
- Amino acid codes (symbols)
- Niemann-Pick disease
- Microcephaly
- Charcot-Marie-Tooth disease
- Noonan syndrome
- Fanconi anemia
- Hereditary sensory and autonomic neuropathy
- Cystic fibrosis and CFTR-related disorders
- Familial hyperaldosteronism
- Adams-Oliver syndrome
- Aicardi-Goutières syndrome
- Bardet-Biedl syndrome
- Overgrowth syndromes
- Pseudohypoaldosteronism
- Hereditary hypoparathyroidism, isolated
- Breast and ovarian cancer, hereditary
- Spinocerebellar ataxias: genetic subtypes
- Spondylometaphyseal dysplasia
- Fragile X intermediate alleles: do they impact the reproductive risk?
- Fibromyalgia: the genetic differential diagnosis
- Current strategies in BRCA1/BRCA2 molecular testing
- BRCA1 and BRCA2: the mutational spectrum
- BRCA1, BRCA2 and their products
- Current methods for BRCA1/BRCA2 molecular analysis
- BRCA1/BRCA2 related cancers
- BRCA1 and BRCA2: deep dive!
- 10 FAQs on hereditary hearing loss
- SMOC1 Database – Homepage
- Deafness and hereditary hearing loss, nonsyndromic
- Transposons
- Retinitis pigmentosa
- Cerebroretinal microangiopathy with calcifications and cysts (Coats plus syndrome)
- Sequencing the DNA of a single cell
- 17q21.31 microdeletion / KANSL1 mutations: Koolen-de Vries syndrome
- Sequencing library: what is it?
- Mutation interpretation service
- Stargardt disease
- Exploring “Omics”: a review of Genomics and Metabolomics
- Congenital cataract, isolated
- Driver mutations
- Arthrogryposis, distal, type 9 (DA9)
- Arthrogryposis, distal, type 8 (DA8)
- Arthrogryposis, distal, type 7 (DA7)
- Arthrogryposis, distal, type 6 (DA6)
- Arthrogryposis, distal, type 5 (DA5)
- Arthrogryposis, distal, type 4 (DA4)
- Arthrogryposis, distal, type 3 (DA3)
- Arthrogryposis, distal, type 2B (DA2B)
- Arthrogryposis, distal, type 2A (DA2A)
- Arthrogryposis multiplex congenita, distal, type 1B (DA1B)
- Arthrogryposis multiplex congenita, distal, type 1A (DA1A)
- First clinical trial using CRISPR approved by National Institutes of Health advisory panel
- Allan-Herndon-Dudley syndrome
- Lysosomal acid lipase deficiency (Wolman disease and CESD)
- RNA extraction tips
- GATK
- 1q43q44 and 1q44 microdeletion syndromes
- Incomplete penetrance
- Hypophosphatemic rickets
- The Star Allele Nomenclature
- Hyperammonemia disorders
- Lissencephaly
- Fleck retina
- Female infertility
- Episodic ataxia
- Congenital myasthenic syndrome
- Congenital ichthyosis
- Gastric cancer
- Colon cancer
- Neuronal ceroid lipofuscinoses
- Amyotrophic lateral sclerosis
- Alport syndrome
- Congenital central hypoventilation syndrome
- Brugada syndrome
- Arthrogryposis
- Haploinsufficiency
- NGS for dummies
- Coffin-Siris syndrome
- Mitochondrial complex IV deficiency (cytochrome c oxidase deficiency)
- Ataxias with oculomotor apraxias (AOAs)
- Potocki-Lupski syndrome
- CNVs: non-homologous recombination
- CNVs: NAHR (Non Allelic Homologous Recombination)
- CNVs formation: beyond evolution
- CNVs: detection methods
- CNVs databases
- Multi-allelic CNVs (mCNVs)
- CNVs: a universe of variations
- Tuberous sclerosis: catching mosaicism and intronic mutations
- How to interpret the results of a genetic test: general flow-chart and common pitfalls
- p.Gly2019Ser: the common LRRK2 mutation
- Newly identified genes in Rett-like patients
- MMP21 mutations causing autosomal recessively inherited heterotaxy
- Mental Retardation 5 (MRD5 – SYNGAP1 gene mutations)
- Incidental findings: current opinions of professionals and patients
- Familial dyskinesia with facial myokymia (ADCY5 gene)
- Polyphen/Polyphen-2
- dbVar: understanding structural variations
- The DGV database: non-pathological structural variations in humans
- Myocardial infarction, familial
- Albinism & Hermansky–Pudlak syndrome
- Leigh syndrome/NARP
- Hereditary red cell membrane disorders
- Joubert and Meckel-Gruber syndromes
- Anophthalmia and microphthalmia (isolated and syndromic)
- Membranoproliferative glomerulonephritis
