Full archive

WES-negative pediatric neurodevelopmental disorder

Expanded carrier screening — East Asian-specific variants

Non-syndromic familial thoracic aortic aneurysm and dissection

Long-read sequencing — ambient temperature DNA preservation

Beckwith-Wiedemann syndrome / Congenital hyperinsulinism

Metabolic steatohepatitis (MASLD) — noncoding RNA therapeutic target

RNU4ATAC-opathy — large international cohort

Inherited retinal diseases — genes with dual inheritance patterns

Familial platelet disorder with myeloid malignancies (FPDMM)

Pompe disease — GAA pseudodeficiency in East Asian populations

Genetic architecture — rare/common variant interactions

Genomic newborn screening — long-term penetrance

Huntington's disease — genetic modifiers of age at onset

WES/WGS diagnostic yield in critically ill neonates and infants

Joubert syndrome

Familial atrial fibrillation

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

Syndromic intellectual disability

FTD/ALS type 3 from *SQSTM1* haploinsufficiency

Chromosomal abnormalities in neonatal and pediatric intensive care

46,XY disorders of sex development

Tetralogy of Fallot

Charcot-Marie-Tooth disease / *PMP22*-related neuropathies

Rare diseases — structural variants from short-read vs long-read sequencing

Autoimmune polyendocrine syndrome type 1 (APS-1)

KBG syndrome / ANKRD11-related epilepsy

Donnai-Barrow syndrome

Arrhythmogenic cardiomyopathy — non-canonical splicing variants

Pediatric rare genetic diseases

Pediatric RASopathies

MARS1-related pulmonary alveolar proteinosis / neurodevelopmental involvement

Combined oxidative phosphorylation deficiency type 32 (COXPD32) / Leigh spectrum

Repeat expansion variants / ACMG guidelines

VUS / Reporting guidelines (ACMG)

Werner syndrome

Nonimmune hydrops fetalis (NIHF)

Hemophilia A and B

X-chromosome inactivation / X-linked disorders

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)

*RPE65*-associated inherited retinal degeneration

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)