Full archive

Thoracic aortic dissection, hereditary aortopathies (FBN1, ACTA2, COL3A1, TGFBR1)

Neurodevelopmental syndrome with intellectual disability, epilepsy, and variable obesity (WDTC1)

Facioscapulohumeral muscular dystrophy (FSHD1 and FSHD2)

Rare diseases / diagnostic odyssey (blood RNA-seq pipeline)

Intellectual disability syndrome with growth retardation and microcephaly (PUS7)

Non-obstructive azoospermia, male infertility

Monogenic metabolic diseases in adults (hyperlipidemia, type 2 diabetes, hypothyroidism)

X-linked hypophosphataemia (XLH) — infants

Epilepsy — gene burden meta-analysis, LGI1-ADAM23 protein complex

Dystonia — molecular diagnostics by fibroblast transcriptomics

HARS1-related autosomal recessive disorder (Usher-like syndrome type 3B)

Inflammatory bowel disease (IBD — Crohn's disease and ulcerative colitis)

Kabuki syndrome type 1

Tuberous sclerosis complex

Neurodevelopmental disorder with intellectual disability, congenital ataxia, hypotonia, seizures, and cerebellar vermis hypoplasia

Mucopolysaccharidoses (MPS I, II, IVA, VI) — nationwide newborn screening

Novel autosomal recessive NDD: intellectual disability, nystagmus and retinal dysfunction

Congenital ventriculomegaly/hydrocephalus and neurodevelopmental disorder

Hereditary demyelinating peripheral neuropathy (CMT1E / HNPP)

SCAR20 (autosomal recessive spinocerebellar ataxia type 20)

Genetic diseases across all specialties — real-world first-tier WGS benchmark (Denmark)

HNRNPH2-related NDD (X-linked, developmental delay, intellectual disability, motor disturbance)

KCC2-developmental and epileptic encephalopathy (KCC2-DEE) — severe neonatal EIMFS

NDD — genotype–phenotype correlation driven by variant location

Novel syndromic NDD + congenital malformations (mostly genitourinary) + epilepsy

Alzheimer's disease and related dementias (polygenic genetic architecture)

Neurodevelopmental CNVs, cardiometabolic and psychiatric multimorbidity in adulthood

Sodium channel-related epilepsies (SCN1A/Dravet, SCN2A, SCN3A, SCN8A, SCN1B)

Familial germline CEBPA acute myeloid leukemia

3q27.1 microdeletion, NDD with growth retardation and dysmorphic features (PSMD2 haploinsufficiency)

Autosomal recessive cutis laxa type 2 (ATP6V0A2), Debré syndrome

Hardikar syndrome (MED12), orofacial, digestive, and genitourinary malformations

Expanded carrier screening (ECS), 176 AR/XL disorders, preventive genetics

GZF1-related disorder, specific ocular and skeletal syndrome (distinct from Larsen syndrome)

Autosomal recessive syndromic dilated cardiomyopathy (WDR59)

RNU4-2-linked neurodevelopmental disorder, severe intellectual disability and epilepsy (non-coding spliceosomal RNA)

Balanced complex chromosomal rearrangement (8-chromosome CCR) with NDD, disrupted NLGN4X, LAMA4, ALG6 genes

Multiple congenital anomalies (tetralogy of Fallot, renal agenesis, polydactyly), first biallelic SLC20A1 case

SYNGAP1-related neurodevelopmental disorder, intellectual disability with drug-resistant epilepsy

Personalized breast cancer prevention in HBOC variant carriers (PRS-BC313 + CanRisk model)

FOXG1 syndrome, neurodevelopmental encephalopathy

Coffin-Siris syndrome and SMARCB1-associated developmental disorders

PRKN autosomal recessive Parkinson's disease

SOD1-ALS — biobank prevalence and implications for preemptive screening

LRRK2 p.Gly2019Ser Parkinson's disease — age at onset by ancestry

Neonatal genetic hearing loss (GJB2, SLC26A4, MT-RNR1, GJB3)

Proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID) — monoallelic

Mitochondrial aminoacyl-tRNA synthetase (mtARS) deficiencies

Population genomic screening for actionable hereditary disorders

DSPP-related dentinogenesis imperfecta (types II and III) and dentin dysplasia type II

Potocki-Lupski syndrome (17p11.2 duplication)

Osteogenesis imperfecta

RAC1-related neurodevelopmental disorder

Mitochondriopathy with complex I deficiency (severe congenital heart defects, hematological abnormalities, Leigh syndrome-like neurological involvement)

Genetic diagnoses in pediatric and cardiac intensive care units (rare diseases in acute care settings)

Pediatric cardiomyopathy with acute heart failure

FGF12 (FHF1)-related early-onset epileptic encephalopathies — treatment with sodium channel blockers

SCA27B — cerebellar ataxia with downbeat nystagmus (A-DBN)

Neurodevelopmental disorder with inter- and intrafamilial phenotypic variability

Familial hypertrophic cardiomyopathy (HCM)

Atypical parkinsonian syndrome mimicking multiple system atrophy (MSA-like)

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) — treatable epileptic encephalopathy

Hereditary cardiomyopathies (HCM, DCM) with high risk of ventricular arrhythmia and sudden death

Ornithine transcarbamylase deficiency (OTCD, MIM#311250) — urea cycle disorder

Transient antenatal Bartter syndrome (TABS) — X-linked fetal salt-losing syndrome

Fetal anomalies (aneuploidies, CNVs, SNVs, structural variants, regions of absence of heterozygosity)

Inherited cardiomyopathy / arrhythmia (Brugada, long QT, etc.) — new mechanism of action

Gordon-Holmes syndrome (HH + severe ataxia + dementia — MIM#212840)

P450 oxidoreductase deficiency (PORD — MIM#613571) — severe form

X-linked NDD (ZFX syndrome) — female presentation

Kallmann syndrome — HH16 (MIM#614897)

Male infertility — teratozoospermia

Stargardt disease — STGD1 (MIM#248200)

GAA-FGF14 ataxia (SCA27B) — adult-onset autosomal dominant cerebellar ataxia

Non-syndromic monogenic obesity — leptin-melanocortin pathway

Rapid genome/exome sequencing in inpatients — clinical impact

Noninvasive prenatal diagnosis — recessive single-gene disorders

Steroid-resistant nephrotic syndrome (SRNS) — molecular diagnosis by exome sequencing

Genomic newborn screening — cost analysis (Generation Study, England)

Smith-Magenis syndrome (17p11.2 deletion or RAI1 variants)

Vascular Ehlers-Danlos syndrome (vEDS)

LRRK2 biallelic loss-of-function Mendelian interstitial lung disease

RYR1-related disorders (malignant hyperthermia, congenital myopathy, rhabdomyolysis)

Mosaic neurofibromatosis type 1

Genetic drug-resistant epilepsy

Autosomal recessive single-gene disorders (non-invasive prenatal diagnosis)

Non-isolated Dandy-Walker malformation

Autosomal dominant non-syndromic sensorineural hearing loss (DFNA9)

Urea cycle disorders (7 diseases: OTC, CPS1, ASS1, ASL, ARG1, NAGS, citrin deficiency)

3MC syndrome (Malpuech-Michels-Mingarelli-Carnevale syndrome) — craniofacial malformations, limb anomalies, intellectual disability

Atypical Fanconi anemia without major hematological abnormalities in childhood

CTLA4-related immune dysregulation (CTLA4 haploinsufficiency — CHAI) — autoimmunity, lymphoproliferation, cytopenias

Fertilization failure and male infertility — NUP210L deficiency (nuclear pore complex component)

Cardiospondylocarpofacial syndrome (CSCF)

MODY (maturity-onset diabetes of the young) — population study

NSUN3 mitochondrial disease + hypertrophic cardiomyopathy (phenotypic expansion)

NEDAMSS (MIM#618088) + West syndrome

PLACK syndrome (MIM#616295) + severe dilated cardiomyopathy (phenotypic expansion)

Cerebral small vessel disease (CSVD)

Short Telomere Syndrome

Pediatric cardiomyopathy with acute heart failure — rapid exome sequencing

Bardet-Biedl syndrome (BBS)

PPP1R12A-related genitourinary and/or brain malformation syndrome (autosomal dominant)

Myhre syndrome (multisystemic fibrosis)

Hereditary sensory and autonomic neuropathy type 9 (HSAN9)

Primary hereditary microcephaly and syndromic primary microcephaly

ESAM congenital tight-junctionopathy

SREBF1-syndromic epidermal differentiation disorder (SREBF1-sEDD)

STEAP3 biallelic neonatal hemophagocytic lymphohistiocytosis

Multiple congenital anomalies with pituitary gland malformation — expanded FOXA2 spectrum

Movement disorder with tremor and dystonia — novel ITPR1 gain-of-function mechanism

Meier-Gorlin syndrome (MGORS — primordial dwarfism) — phenotypic expansion

Syndromic aortopathy — overlap with Loeys–Dietz syndrome 2 (MIM#610168)

RPE65-associated Leber congenital amaurosis (RPE65-LCA)