Consolidating the Role of Mutated <i>ATP2B2</i> in Neurodevelopmental and Cerebellar Pathologies

2024-10-5

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2024-10-1

Second Case of Gonadal Mosaicism and a Novel Nonsense <scp>NR2F1</scp> Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome

2024-9-30

Review of susceptibility genes in developmental dysplasia of the hip: A comprehensive examination of candidate genes and pathways

2024-9-22

Novel <i>KIF26A</i> variants associated with pediatric intestinal pseudo‐obstruction (<scp>PIPO</scp>) and brain developmental defects

2024-9-21

Research progress of the relationship between phosphoprotein phosphatases (<scp>PPPs</scp>) and neurodevelopmental disorders

2024-9-19

Knowledge and perceptions about fragile X syndrome and fragile X‐premutation‐associated conditions among medical doctors in Nigeria

2024-9-18

Genetics of anomalies of the kidney and urinary tract with congenital heart disease: A review

2024-9-17

Compound heterozygosity for two variants in <i>BMP5</i> in human skeletal dysostosis with atrioventricular septal defect

2024-9-6

Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (<i>GSS</i>)

2024-9-2

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2024-9-2

Dissecting <scp><i>CASK</i></scp>: Novel splice site variant associated with male <scp>MICPCH</scp> phenotype

2024-8-30

Childhood glaucoma: Implications for genetic counselling

2024-8-29

Expanding the genetic landscape of Usher syndrome type <scp>IV</scp> caused by pathogenic <i>ARSG</i> variants

2024-8-28

Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the <scp>MYB</scp> Binding Protein 1a (<scp><i>MYBBP1A</i></scp>) gene

2024-8-27

<scp>SCYL2</scp>‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond?

2024-8-21

Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in <i>PPP2R5D</i>‐related neurodevelopmental disorder

2024-8-21

Novel <i>PLEC</i> variants associated with infantile cholestasis

2024-8-21

Expanding the phenotypes of <i>ABL1</i> deficiency syndromes: When mutations in different isoforms Lead to different diseases

2024-8-18

In memory of Ludwine Messiaen, Ph.D. (1956–2024)

2024-8-14

Active spread of β‐thalassemia beyond the thalassemia belt: A study on a Russian population

2024-8-14

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2024-8-11

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2024-8-11

The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross‐sectional study

2024-8-9

Genetic landscape of hearing loss in prelingual deaf patients of eastern <scp>Iran</scp>: Insights from exome sequencing analysis

2024-8-6

Exploring the role of non‐canonical splice site variants in aberrant splicing associated with reproductive genetic disorders

2024-8-5

Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil

2024-8-5

Identification of copy‐number variants in patients with overgrowth disorders

2024-8-1

Epilepsy due to potential loss of <i>ATP6V1B2</i> function with mechanistic insight by a <i>Drosophila</i> Vha55 model

2024-7-29

Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory

2024-7-29

Correction to “<scp>SAM</scp> domain variants of <scp>EPHB4</scp> associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology”

2024-7-29

A de novo novel variant in the <i>MT‐TD</i> gene is associated with prominent extra‐neurologic manifestations

2024-7-26

Toward <scp>3D</scp> facial analysis for recognizing Mendelian causes of autism spectrum disorder

2024-7-26

The c.‐<scp>265G</scp>&gt;A <i>GLA</i> gene promoter variant causes Fabry disease: The hidden culprit identified

2024-7-18

Clinical and molecular characterization of limb‐girdle muscular dystrophy <scp>2G</scp>/<scp>R7</scp> in a large cohort of Brazilian patients

2024-7-17

Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities

2024-7-16

Genetics of 67 patients of suspected primary ciliary dyskinesia from India

2024-7-14

Compound heterozygous variants in <scp><i>SLC45A1</i></scp> might cause syndromic intellectual disability by localization failure and activity attenuation in cells

2024-7-14

A rare form of <scp>LIM</scp> domain‐binding protein 3 (<scp><i>LDB3</i></scp>) mutation causes hypertrophic cardiomyopathy and myofibrillar myopathy type 4

2024-7-11

The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic <i>ANK3</i> variants

2024-7-11

Streamlined two‐step fragment analysis <scp>PCR</scp> and exome sequencing of <scp>RFC1</scp> for diagnostic testing of suspected <scp>CANVAS</scp> patients

2024-7-10

Whole genome sequencing identifies a homozygous splicing variant in <i>TDRKH</i> segregating with non‐obstructive azoospermia in an Iranian family

2024-7-2

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2024-7-1

Low‐intensity noise exposure takes an essential part in the mechanism of late‐onset hereditary hearing loss caused by Abcc1 mutation

2024-7-1

<scp>HDR</scp> syndrome: Large cohort and systematic review

2024-6-28

<scp>SETBP1</scp> haploinsufficiency and related disorders clinical and neurobehavioral phenotype study

2024-6-26