Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes

2024-8-30

Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy

2024-8-29

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia

2024-8-26

A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant

2024-8-26

Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX

2024-8-16

The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis

2024-8-16

Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report

2024-8-15

Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature

2024-7-26

Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency

2024-7-26

TACSTD2 in gelatinous drop-like corneal dystrophy: variant functional analysis and expression in the cornea after limbal stem cell transplantation

2024-7-16

Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders

2024-6-13

Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population

2024-6-12

Investigating mobile element variations by statistical genetics

2024-5-30

Characteristic craniofacial defects associated with a novel USP9X truncation mutation

2024-5-16

NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas

2024-5-16

Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait

2024-5-15

Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis

2024-4-23

Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data

2024-4-17

Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant

2024-3-29

Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

2024-3-29

Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants

2024-3-28

End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy

2024-3-28

A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency

2024-3-22

A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome

2024-3-22

BARD1 deletion in a patient with suspected hereditary colorectal cancer

2024-3-15

A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins

2024-2-29

Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient

2024-2-26

A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant

2024-2-22

Novel variant of FBN2 in a patient with congenital contractual arachnodactyly

2024-2-8

Epigenetic regulation of the nuclear genome associated with mitochondrial dysfunction in Leber’s hereditary optic neuropathy (LHON)

2024-1-25

Novel frameshift variant of WNT10A in a Japanese patient with hypodontia

2024-1-23

A recurrent synonymous L1CAM variant in a fetus with hydrocephalus

2024-1-23

Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder

2024-1-15

Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A

2024-1-15

A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression

2024-1-5

A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1

2023-11-22

Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy

2023-11-20

Correction: Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder

2023-11-15

A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay

2023-10-16

A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report

2023-9-26

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

2023-9-11

Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia

2023-9-6

Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants

2023-8-22

Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features

2023-8-7

X-linked intellectual disability related to a novel variant of KLHL15

2023-7-14

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus

2023-6-23

Genome-wide association study of preterm birth and gestational age in a Japanese population

2023-6-13

Oculofaciocardiodental syndrome caused by a novel BCOR variant

2023-6-12

A novel HECW2 variant in an infant with congenital long QT syndrome

2023-6-6

A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family

2023-5-23