{"id":478,"date":"2024-02-12T18:48:21","date_gmt":"2024-02-12T18:48:21","guid":{"rendered":"https:\/\/sebgc.es\/blog\/?page_id=478"},"modified":"2024-02-12T18:48:21","modified_gmt":"2024-02-12T18:48:21","slug":"journal-of-medical-genetics","status":"publish","type":"page","link":"https:\/\/sebigec.es\/blog\/index.php\/journal-of-medical-genetics\/","title":{"rendered":"Journal of Medical Genetics"},"content":{"rendered":"<ul class=\"wp-block-latest-posts__list is-grid columns-3 has-dates wp-block-latest-posts\"><li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/30\/expanding-the-phenotypic-spectrum-of-mecom-associated-syndrome-rare-variants-are-associated-with-syndromic-pulmonary-arterial-hypertension\/\">Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension<\/a><time datetime=\"2026-01-30T17:00:19+00:00\" class=\"wp-block-latest-posts__post-date\">enero 30, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/29\/mitf-p-e318k-and-renal-cell-carcinoma-current-evidence-does-not-support-an-effect\/\">MITF (p.E318K) and renal cell carcinoma: current evidence does not support an effect<\/a><time datetime=\"2026-01-29T17:00:30+00:00\" class=\"wp-block-latest-posts__post-date\">enero 29, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/19\/how-do-clinician-and-parent-reported-data-differ-an-analysis-of-similarity-and-difference-in-the-datasets-from-a-cross-syndrome-genetics-cohort-study-genroc\/\">How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC)<\/a><time datetime=\"2026-01-19T17:00:26+00:00\" class=\"wp-block-latest-posts__post-date\">enero 19, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/16\/clinical-manifestations-of-chromosome-19p13-11-duplication\/\">Clinical manifestations of chromosome 19p13.11 duplication<\/a><time datetime=\"2026-01-16T17:00:18+00:00\" class=\"wp-block-latest-posts__post-date\">enero 16, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/16\/biallelic-ttbk1-variant-causes-a-severe-syndromic-neurodevelopmental-disorder-clinical-and-genetic-insights-from-two-siblings\/\">Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings<\/a><time datetime=\"2026-01-16T17:00:18+00:00\" class=\"wp-block-latest-posts__post-date\">enero 16, 2026<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/31\/novel-in-frame-variant-in-des-p-glu353dup-causes-myofibrillar-myopathy-clinical-in-silico-and-functional-studies\/\">Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies<\/a><time datetime=\"2025-12-31T17:00:20+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 31, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/30\/targeting-autophagy-in-duchenne-muscular-dystrophy-mechanistic-insights-and-emerging-therapeutic-strategies\/\">Targeting autophagy in Duchenne muscular dystrophy: mechanistic insights and emerging therapeutic strategies<\/a><time datetime=\"2025-12-30T17:00:23+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 30, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/23\/refining-the-phenotypic-spectrum-of-pnkp-related-microcephaly-a-study-of-27-new-patients\/\">Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patients<\/a><time datetime=\"2025-12-23T09:26:42+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 23, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/21\/catatonia-and-regression-in-an-autism-spectrum-disorder-patient-harbouring-a-brsk2-frameshift-mutation\/\">Catatonia and regression in an autism spectrum disorder patient harbouring a BRSK2 frameshift mutation<\/a><time datetime=\"2025-12-21T17:00:26+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 21, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/18\/obstetric-history-of-women-with-m-3243ag-an-observational-cohort-study\/\">Obstetric history of women with m.3243A&gt;G: an observational cohort study<\/a><time datetime=\"2025-12-18T17:00:28+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 18, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/18\/haplotype-studies-and-the-use-of-a-nearby-tagging-variant-confirm-a-founder-origin-for-an-intragenic-cyp11b1-inversion\/\">Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion<\/a><time datetime=\"2025-12-18T17:00:27+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 18, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/18\/analysis-of-familial-exudative-vitreoretinopathy-fevr-cases-in-the-uk-100-000-genomes-project-increases-diagnostic-rate-and-implicates-heterozygous-ctnnd1-mutations-in-fevr\/\">Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR<\/a><time datetime=\"2025-12-18T17:00:27+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 18, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/18\/evidence-for-pathogenicity-of-brca2-c-8351ga-p-arg2784gln-and-the-challenges-in-classification-of-pathogenic-variants-with-reduced-penetrance\/\">Evidence for pathogenicity of BRCA2 c.8351G&gt;A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance<\/a><time datetime=\"2025-12-18T17:00:27+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 18, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/16\/sequencing-every-uk-newborn-why-cold-storage-economics-should-shape-policy\/\">Sequencing every UK newborn: why cold storage economics should shape policy<\/a><time datetime=\"2025-12-16T05:56:05+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 16, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/11\/challenges-associated-with-disclosing-results-from-whole-genome-sequencing-to-diagnose-paediatric-rare-diseases-analysis-of-parent-clinician-interactions\/\">Challenges associated with disclosing results from whole genome sequencing to diagnose paediatric rare diseases: analysis of parent-clinician interactions<\/a><time datetime=\"2025-12-11T10:18:12+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 11, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/03\/intragenic-loss-of-function-variants-in-transcription-factors-maz-foxp1-and-sin3b-in-colobomatous-microphthalmia\/\">Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia<\/a><time datetime=\"2025-12-03T17:00:24+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 3, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/03\/association-for-clinical-genomic-science-acgs-guidelines-for-the-classification-of-oncogenicity-of-somatic-variants-in-cancer-recommendations-by-the-uk-somatic-variant-interpretation-group-svig-uk\/\">Association for Clinical Genomic Science (ACGS) guidelines for the classification of oncogenicity of somatic variants in cancer: recommendations by the UK somatic variant interpretation group (SVIG-UK)<\/a><time datetime=\"2025-12-03T17:00:24+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 3, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/23\/acth-secreting-atypical-carcinoid-lung-tumour-expanding-the-lynch-syndrome-spectrum\/\">ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum<\/a><time datetime=\"2025-11-23T17:01:50+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 23, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/21\/mixed-functional-consequences-of-the-n651d-gria3-variant-a-case-of-early-onset-developmental-and-epileptic-encephalopathy-with-parkinsonism\/\">Mixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with parkinsonism<\/a><time datetime=\"2025-11-21T13:24:34+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 21, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/21\/pura-protein-mislocalisation-in-the-nucleus-mechanistic-basis-for-transcriptional-dysregulation-and-dna-unwinding-deficits-in-a-model-of-the-p-l148wfs77-pura-variant\/\">PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77 PURA variant<\/a><time datetime=\"2025-11-21T13:24:34+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 21, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/21\/further-evidence-of-rnu4atac-variants-causing-joubert-syndrome-with-skeletal-involvement\/\">Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement<\/a><time datetime=\"2025-11-21T13:24:34+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 21, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/21\/long-term-efficacy-of-migalastat-in-females-with-fabry-disease\/\">Long-term efficacy of migalastat in females with Fabry disease<\/a><time datetime=\"2025-11-21T13:24:34+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 21, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/21\/inefficiencies-in-precision-medicine-can-genetic-counsellors-gc-be-the-solution-the-experience-from-the-first-gc-led-cancer-genetics-service-in-asia\/\">Inefficiencies in precision medicine: can genetic counsellors (GC) be the solution? The experience from the first GC-led cancer genetics service in Asia<\/a><time datetime=\"2025-11-21T13:24:34+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 21, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/21\/refined-genotype-phenotype-correlations-in-neurofibromatosis-type-1-patients-with-nf1-point-variants\/\">Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants<\/a><time datetime=\"2025-11-21T13:24:34+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 21, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/21\/multiple-early-onset-atypical-cutaneous-fibrous-histiocytomas-in-multilocus-inherited-neoplasia-allele-syndrome-involving-tp53-and-flcn-genes\/\">Multiple early onset atypical cutaneous fibrous histiocytomas in multilocus inherited neoplasia allele syndrome involving TP53 and FLCN genes<\/a><time datetime=\"2025-11-21T13:24:34+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 21, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/21\/apc-i1307k-and-clinical-management-insights-from-uk-biobank-association-analysis-of-colorectal-and-other-cancer-risks-in-ashkenazi-and-non-ashkenazi-whites\/\">APC I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites<\/a><time datetime=\"2025-11-21T13:24:34+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 21, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/21\/reproductive-carrier-screening-for-genetic-disorders-position-statement-of-the-canadian-college-of-medical-geneticists\/\">Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists<\/a><time datetime=\"2025-11-21T13:24:34+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 21, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/21\/resolving-structural-variations-missed-by-short-read-sequencing-uncovers-their-pathogenicity\/\">Resolving structural variations missed by short-read sequencing uncovers their pathogenicity<\/a><time datetime=\"2025-11-21T13:24:34+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 21, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/21\/development-of-a-functional-assay-for-the-characterisation-of-smad4-variants-from-the-french-haemorrhagic-hereditary-telangiectasia-cohort\/\">Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort<\/a><time datetime=\"2025-11-21T13:24:34+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 21, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/20\/expert-endoscopic-surveillance-in-cdh1-pathogenic-variant-carriers-seems-safe-even-after-positive-pt1a-biopsies\/\">Expert endoscopic surveillance in CDH1 pathogenic variant carriers seems safe, even after positive (pT1a) biopsies<\/a><time datetime=\"2025-11-20T17:00:29+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 20, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/20\/advancing-genotype-phenotype-analysis-through-3d-facial-morphometry-insights-from-cri-du-chat-syndrome\/\">Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome<\/a><time datetime=\"2025-11-20T17:00:28+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 20, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/19\/validation-of-the-pathology-adjusted-manchester-scoring-system-in-over-10-000-assessments-of-cases-with-breast-and-or-ovarian-cancer\/\">Validation of the pathology-adjusted Manchester scoring system in over 10 000 assessments of cases with breast and\/or ovarian cancer<\/a><time datetime=\"2025-11-19T17:00:15+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 19, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/13\/genetic-and-embryonic-transcriptome-analyses-reveal-the-molecular-and-developmental-basis-of-mayer-rokitansky-kux0308ster-hauser-syndrome\/\">Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Ku&#x308;ster-Hauser syndrome<\/a><time datetime=\"2025-11-13T17:00:17+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 13, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/09\/specific-considerations-for-mutyh-carrier-testing-in-individuals-of-gujarati-heritage-uk-cancer-genetics-group-recommendations\/\">Specific considerations for MUTYH carrier testing in individuals of Gujarati heritage: UK cancer genetics group recommendations<\/a><time datetime=\"2025-11-09T17:00:22+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 9, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/09\/no-association-of-alzheimer-disease-with-the-joint-effect-of-hfe-and-tf-in-the-mid-western-amish\/\">No association of Alzheimer disease with the joint effect of HFE and TF in the mid-western Amish<\/a><time datetime=\"2025-11-09T17:00:22+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 9, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/30\/cardiovascular-risk-in-achondroplasia-a-systematic-review\/\">Cardiovascular risk in achondroplasia: a systematic review<\/a><time datetime=\"2025-10-30T16:00:27+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 30, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/29\/analysis-of-muscle-and-blood-rna-samples-from-patients-with-myotonic-dystrophy-type-1-reveals-the-presence-of-new-mis-splicing-biomarkers-of-disease-severity\/\">Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity<\/a><time datetime=\"2025-10-29T05:56:33+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 29, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/24\/exploring-the-spectrum-of-central-nervous-system-tumours-in-carriers-of-germline-pot1-variants\/\">Exploring the spectrum of central nervous system tumours in carriers of germline POT1 variants<\/a><time datetime=\"2025-10-24T16:00:17+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 24, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/23\/dental-agenesis-as-a-novel-phenotypical-feature-associated-with-hereditary-diffuse-gastric-cancer-in-china\/\">Dental agenesis as a novel phenotypical feature associated with hereditary diffuse gastric cancer in China<\/a><time datetime=\"2025-10-23T06:45:42+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 23, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/17\/heterozygous-alterations-of-gtf2i-at-the-williams-beuren-syndromes-locus-cause-a-neurodevelopmental-disorder\/\">Heterozygous alterations of GTF2I at the Williams-Beuren syndromes locus cause a neurodevelopmental disorder<\/a><time datetime=\"2025-10-17T15:44:53+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 17, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/08\/actb-deletions-or-single-nucleotide-loss-of-function-variants-expansion-and-further-delineation-of-the-phenotype-and-review-of-the-literature\/\">ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature<\/a><time datetime=\"2025-10-08T16:00:14+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 8, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/03\/calibration-and-refinement-of-acmg-amp-criteria-for-variant-classification-with-bayesquantify\/\">Calibration and refinement of ACMG\/AMP criteria for variant classification with BayesQuantify<\/a><time datetime=\"2025-10-03T04:58:09+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 3, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/01\/multicentre-audit-reviewing-reporting-and-management-of-patients-with-incidentally-identified-structural-aberrations-involving-high-actionability-cancer-susceptibility-genes\/\">Multicentre audit reviewing reporting and management of patients with incidentally identified structural aberrations involving high actionability cancer susceptibility genes<\/a><time datetime=\"2025-10-01T07:13:26+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 1, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/01\/recontact-and-follow-up-for-individuals-with-germline-pathogenic-variants-in-hereditary-breast-and-ovarian-cancer-susceptibility-genes-a-uk-cancer-genetics-group-consensus-meeting\/\">Recontact and follow-up for individuals with germline pathogenic variants in hereditary breast and ovarian cancer susceptibility genes: a UK Cancer Genetics Group consensus meeting<\/a><time datetime=\"2025-10-01T07:13:26+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 1, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/09\/27\/health-related-quality-of-life-in-patients-with-mitochondrial-disease-and-their-carers\/\">Health-related quality of life in patients with mitochondrial disease and their carers<\/a><time datetime=\"2025-09-27T16:00:16+00:00\" class=\"wp-block-latest-posts__post-date\">septiembre 27, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/09\/24\/sephardic-origins-revealed-for-rare-skin-disorder-recessive-dystrophic-epidermolysis-bullosa-in-individuals-carrying-the-unique-c-6527insc-mutation\/\">Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation<\/a><time datetime=\"2025-09-24T16:00:24+00:00\" class=\"wp-block-latest-posts__post-date\">septiembre 24, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/09\/19\/comprehensive-genetic-landscapes-and-clinical-heterogeneity-in-nanophthalmos-new-insights-from-a-large-chinese-cohort\/\">Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort<\/a><time datetime=\"2025-09-19T16:00:23+00:00\" class=\"wp-block-latest-posts__post-date\">septiembre 19, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/09\/17\/gapo-syndrome-a-comprehensive-examination-and-review-of-105-clinical-cases\/\">GAPO syndrome: a comprehensive examination and review of 105 clinical cases<\/a><time datetime=\"2025-09-17T16:00:47+00:00\" class=\"wp-block-latest-posts__post-date\">septiembre 17, 2025<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2025\/09\/17\/heterozygous-tbx2-frameshift-variants-cause-a-novel-syndromic-hearing-loss-with-incompletely-penetrant-nystagmus\/\">Heterozygous TBX2 frameshift variants cause a novel syndromic hearing loss with incompletely penetrant nystagmus<\/a><time datetime=\"2025-09-17T16:00:47+00:00\" class=\"wp-block-latest-posts__post-date\">septiembre 17, 2025<\/time><\/li>\n<li><div class=\"wp-block-latest-posts__featured-image\"><a href=\"https:\/\/sebigec.es\/blog\/index.php\/2024\/02\/10\/bi-allelic-variants-in-chromatoid-body-protein-tdrd6-cause-spermiogenesis-defects-and-severe-oligoasthenoteratozoospermia-in-humans\/\" aria-label=\"Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans\"><img loading=\"lazy\" decoding=\"async\" width=\"150\" height=\"150\" src=\"https:\/\/sebigec.es\/blog\/wp-content\/uploads\/2024\/01\/JHumGen-cover-150x150.webp\" class=\"attachment-thumbnail size-thumbnail wp-post-image\" alt=\"\" style=\"\" \/><\/a><\/div><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2024\/02\/10\/bi-allelic-variants-in-chromatoid-body-protein-tdrd6-cause-spermiogenesis-defects-and-severe-oligoasthenoteratozoospermia-in-humans\/\">Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans<\/a><time datetime=\"2024-02-10T17:00:16+00:00\" class=\"wp-block-latest-posts__post-date\">febrero 10, 2024<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/21\/recessive-mecr-pathogenic-variants-cause-an-lhon-like-optic-neuropathy\/\">Recessive MECR pathogenic variants cause an LHON-like optic neuropathy<\/a><time datetime=\"2023-12-21T09:18:15+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 21, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/21\/germline-hpf1-retrogene-insertion-in-rb1-gene-involved-in-cancer-predisposition\/\">Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition<\/a><time datetime=\"2023-12-21T09:18:15+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 21, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/21\/clinical-genetic-and-biochemical-signatures-of-rbp4-related-ocular-malformations\/\">Clinical, genetic and biochemical signatures of RBP4-related ocular malformations<\/a><time datetime=\"2023-12-21T09:18:15+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 21, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/21\/prevalence-and-clinical-implications-of-germline-pathogenic-variants-in-cancer-predisposing-genes-in-young-patients-across-sarcoma-subtypes\/\">Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes<\/a><time datetime=\"2023-12-21T09:18:15+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 21, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/21\/opportunistic-genetic-screening-increases-the-diagnostic-yield-and-is-medically-valuable-for-care-of-patients-and-their-relatives-with-hereditary-cancer\/\">Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer<\/a><time datetime=\"2023-12-21T09:18:15+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 21, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/21\/integrating-rna-seq-into-genome-sequencing-workflow-enhances-the-analysis-of-structural-variants-causing-neurodevelopmental-disorders\/\">Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders<\/a><time datetime=\"2023-12-21T09:18:15+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 21, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/21\/experience-of-reassessing-fbn1-variants-of-uncertain-significance-by-gene-specific-guidelines\/\">Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines<\/a><time datetime=\"2023-12-21T09:18:15+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 21, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/21\/multiple-molecular-diagnoses-in-the-field-of-intellectual-disability-and-congenital-anomalies-3-5-of-all-positive-cases\/\">Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases<\/a><time datetime=\"2023-12-21T09:18:15+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 21, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/21\/genetic-and-phenotypic-spectrum-of-non-21-hydroxylase-deficiency-primary-adrenal-insufficiency-in-childhood-data-from-111-chinese-patients\/\">Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients<\/a><time datetime=\"2023-12-21T09:18:15+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 21, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/21\/genotype-phenotype-associations-in-alstrox0308m-syndrome-a-systematic-review-and-meta-analysis\/\">Genotype-phenotype associations in Alstro&amp;#x0308;m syndrome: a systematic review and meta-analysis<\/a><time datetime=\"2023-12-21T09:18:15+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 21, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/21\/evaluation-of-the-clinical-biochemical-genotype-and-prognosis-of-mut-type-methylmalonic-acidemia-in-365-chinese-cases\/\">Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases<\/a><time datetime=\"2023-12-21T09:18:15+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 21, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/21\/carriers-of-autosomal-recessive-conditions-are-they-really-unaffected\/\">Carriers of autosomal recessive conditions: are they really &#8216;unaffected?<\/a><time datetime=\"2023-12-21T09:18:15+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 21, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/16\/changing-the-standardised-obstetric-care-by-expanded-carrier-screening-and-counselling-a-multicentre-prospective-cohort-study\/\">Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study<\/a><time datetime=\"2023-12-16T17:00:15+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 16, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/01\/co-design-of-patient-information-leaflets-for-germline-predisposition-to-cancer-recommendations-for-clinical-practice-from-the-uk-cancer-genetics-group-ukcgg-cancer-research-uk-cruk-funded-cange\/\">Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC)<\/a><time datetime=\"2023-12-01T02:26:50+00:00\" class=\"wp-block-latest-posts__post-date\">diciembre 1, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/11\/06\/weill-marchesani-syndrome-natural-history-and-genotype-phenotype-correlations-from-18-news-cases-and-review-of-literature\/\">Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature<\/a><time datetime=\"2023-11-06T17:00:16+00:00\" class=\"wp-block-latest-posts__post-date\">noviembre 6, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/10\/25\/further-characterisation-of-arx-related-disorders-in-females-due-to-inherited-or-de-novo-variants\/\">Further characterisation of ARX-related disorders in females due to inherited or de novo variants<\/a><time datetime=\"2023-10-25T16:00:12+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 25, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/10\/10\/evidence-of-a-genetic-background-predisposing-to-complex-regional-pain-syndrome-type-1\/\">Evidence of a genetic background predisposing to complex regional pain syndrome type 1<\/a><time datetime=\"2023-10-10T22:30:11+00:00\" class=\"wp-block-latest-posts__post-date\">octubre 10, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/09\/29\/neurofibromatosis-type-1-mosaicism-in-patients-with-constitutional-mismatch-repair-deficiency\/\">Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency<\/a><time datetime=\"2023-09-29T16:00:14+00:00\" class=\"wp-block-latest-posts__post-date\">septiembre 29, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/09\/21\/diagnostic-genome-sequencing-improves-diagnostic-yield-a-prospective-single-centre-study-in-1000-patients-with-inherited-eye-diseases\/\">Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases<\/a><time datetime=\"2023-09-21T16:00:19+00:00\" class=\"wp-block-latest-posts__post-date\">septiembre 21, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/09\/11\/association-between-genetic-polymorphisms-and-risk-of-adolescent-idiopathic-scoliosis-in-case-control-studies-a-systematic-review\/\">Association between genetic polymorphisms and risk of adolescent idiopathic scoliosis in case-control studies: a systematic review<\/a><time datetime=\"2023-09-11T16:00:14+00:00\" class=\"wp-block-latest-posts__post-date\">septiembre 11, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/09\/01\/tbx20-loss-of-function-variants-in-families-with-left-ventricular-non-compaction-cardiomyopathy\/\">TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy<\/a><time datetime=\"2023-09-01T16:00:13+00:00\" class=\"wp-block-latest-posts__post-date\">septiembre 1, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/09\/01\/recurrent-brca2-exon-3-deletion-in-assyrian-families\/\">Recurrent BRCA2 exon 3 deletion in Assyrian families<\/a><time datetime=\"2023-09-01T16:00:13+00:00\" class=\"wp-block-latest-posts__post-date\">septiembre 1, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/08\/19\/further-delineation-of-the-rare-gdaccf-global-developmental-delay-absent-or-hypoplastic-corpus-callosum-dysmorphic-facies-syndrome-genotype-and-phenotype-of-22-patients-with-znf148-mutations\/\">Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations<\/a><time datetime=\"2023-08-19T16:00:11+00:00\" class=\"wp-block-latest-posts__post-date\">agosto 19, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/08\/16\/updates-on-diagnostic-criteria-for-hereditary-haemorrhagic-telangiectasia-in-the-light-of-whole-genome-sequencing-of-gene-negative-individuals-recruited-to-the-100-000-genomes-project\/\">Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of &#8216;gene-negative individuals recruited to the 100 000 Genomes Project<\/a><time datetime=\"2023-08-16T16:00:23+00:00\" class=\"wp-block-latest-posts__post-date\">agosto 16, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/08\/14\/integrating-a-polygenic-risk-score-into-a-clinical-setting-would-impact-risk-predictions-in-familial-breast-cancer\/\">Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer<\/a><time datetime=\"2023-08-14T16:00:17+00:00\" class=\"wp-block-latest-posts__post-date\">agosto 14, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/07\/06\/mutation-in-mitral-valve-prolapse-susceptible-gene-dchs1-causes-familial-mitral-annular-disjunction\/\">Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction<\/a><time datetime=\"2023-07-06T16:00:16+00:00\" class=\"wp-block-latest-posts__post-date\">julio 6, 2023<\/time><\/li>\n<li><a class=\"wp-block-latest-posts__post-title\" href=\"https:\/\/sebigec.es\/blog\/index.php\/2023\/06\/30\/smarca4-mutation-causes-human-otosclerosis-and-a-similar-phenotype-in-mice\/\">SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice<\/a><time datetime=\"2023-06-30T16:00:22+00:00\" class=\"wp-block-latest-posts__post-date\">junio 30, 2023<\/time><\/li>\n<\/ul>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":461,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-478","page","type-page","status-publish","has-post-thumbnail","hentry"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/pages\/478","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=478"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/pages\/478\/revisions"}],"predecessor-version":[{"id":479,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/pages\/478\/revisions\/479"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media\/461"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=478"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}