| A bi‐allelic <scp><i>REC114</i></scp> loss‐of‐function variant causes meiotic arrest and nonobstructive azoospermia |
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✓ |
✓ |
Chinese |
| Epidemiological and clinical features of malignant hyperthermia: A scoping review |
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| Identifying candidate genes underlying isolated congenital anosmia |
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| <scp>SAM</scp> domain variants of <scp>EPHB4</scp> associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology |
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| Spermatozoa in mice lacking the nucleoporin <scp>NUP210L</scp> show defects in head shape and motility but not in nuclear compaction or histone replacement |
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| <scp><i>RUNX2</i></scp>‐related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling <scp><i>SFRP4</i></scp>‐related Pyle disease |
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| A mother and her daughter carrying a pathogenic expansion of the <scp><i>HTT</i></scp> gene with a phenotype encompassing motor neuron disease and <scp>Huntington's</scp> disease |
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| Issue Information |
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| Exome sequencing identifies homozygous variants in <i>MBOAT7</i> associated with neurodevelopmental disorder |
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✓ |
✓ |
Pakistani |
| Diagnostic exome identifies a novel <scp>PRKG2</scp> mutation in a proband with skeletal dysplasia |
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| <scp>CAMTA1‐related</scp> disorder: Phenotypic and molecular characterization of 26 new individuals and literature review |
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| Characterization of <i>D4Z4</i> alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (<scp>FSHD</scp>) in a cohort of Italian families |
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✓ |
✓ |
Italian families |
| Genetic identification of familial hypercholesterolemia within whole genome sequences in 6820 newborns |
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✓ |
✓ |
Chinese; Qingdao of China; Chinese population |
| A de novo variant in <i>RERE</i> causes autistic behavior by disrupting related genes and signaling pathway |
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| A novel homozygous variant in <i>PMVK</i> is associated with enhanced <scp>IL1β</scp> secretion and a <scp>hyper‐IgD</scp> syndrome‐like phenotype |
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| Functional analysis of the <scp>CTNS</scp> gene exonic variants predicted to affect splicing |
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| <i>ERBB3</i> deficiency causes a multisystemic syndrome in human patient and zebrafish |
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| Assessing <scp>type I</scp> collagen expression and quality in cellular models of osteogenesis imperfecta |
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| <scp>CATSHL</scp> syndrome, a new family and phenotypic expansion |
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| Inheritance of c.<scp>628‐6G</scp>>A <i>GNB5</i> hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants |
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| Parental request for familial carrier testing in early childhood: The genetic counseling perspective |
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| Gene mutations as predictors of central lymph mode metastasis in <scp>cN0 PTC</scp>: A meta‐analysis |
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| A novel <i>RNF125</i> variant associated with Tenorio syndrome alters ubiquitin chain binding |
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| <scp><i>CCDC65</i></scp>, encoding a component of the axonemal <scp>Nexin‐Dynein</scp> regulatory complex, is required for sperm flagellum structure in humans |
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| Association between genetic variants of transmembrane transporters and susceptibility to anthracycline‐induced cardiotoxicity: Current understanding and existing evidence |
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| A splice donor variant of <i>GAS8</i> induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility |
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| Digenic inheritance accounts for phenotypic variability in amelogenesis imperfecta |
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| Issue Information |
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| Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review |
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| Genetic and phenotypic findings in 34 novel Spanish patients with <scp><i>DDX3X</i></scp> neurodevelopmental disorder |
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| Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the <i>KIFBP</i> gene |
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| <scp>DNA</scp>‐pools targeted‐sequencing as a robust cost‐effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis |
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| De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype |
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| Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins |
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✓ |
✓ |
Japanese |
| Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability |
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| <scp>RIPOR2</scp>: A new gene of non‐syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models |
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| Clinical exome sequencing reveals a novel pathogenic variant in <i>KIF12</i> underlying cholestasis with highly variable phenotypes |
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| The third case of Marbach‐Rustad progeroid syndrome caused by a <i>de novo LEMD2</i> variant |
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| Perspectives of carriers of X‐linked retinal diseases on genetic testing and gene therapy: A global survey |
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| The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic |
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| Genetic backgrounds and diagnosis of familial hypercholesterolemia |
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| Adding to the evidence of gene‐disease association of <i>RAP1B</i> and syndromic thrombocytopenia |
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| Variants in <scp><i>DOK7</i></scp> results in fetal akinesia deformation sequence: A case report and review of literature |
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| A homozygous frameshift variant expands the clinical spectrum of <i>SAMD9</i> gene defects |
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✓ |
✓ |
Lebanese |
| A novel non‐recurrent <scp>CNV</scp> deletion involving <scp><i>TBX4</i></scp> and leaving <scp><i>TBX2</i></scp> intact causes congenital alveolar dysplasia |
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| CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews |
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✓ |
✓ |
Moroccan Jewish descent; North African Jewish ancestry; Jews of Moroccan descent |
| Exploring factors impacting <scp>haplotype‐based</scp> noninvasive prenatal diagnosis for <scp>single‐gene</scp> recessive disorders |
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| <scp>LRRC23</scp> deficiency causes male infertility with idiopathic asthenozoospermia by disrupting the assembly of radial spokes |
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| Sequence variants in <i>DLX5</i>, <i>HOXD13</i> and 445 kb‐microduplication surrounding <i>BTRC</i> cause split‐hand/foot malformation in three different families |
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| Issue Information |
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| Novel <scp><i>WEE2</i></scp> homozygous mutations c.<scp>1346C</scp>>T and c.<scp>949A</scp>>T identified in primary infertile women due to unexplained fertilization failure |
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| Identification of nonfunctional <scp>PABPC1L</scp> causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility |
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| Novel <scp><i>MEIOB</i></scp> pathogenic variants including a homozygous non‐canonical splicing variant, cause meiotic arrest and human non‐obstructive azoospermia |
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✓ |
✓ |
Chinese |
| Prospects and challenges of <scp>CRISPR</scp>/Cas9 gene‐editing technology in cancer research |
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| Spectrum of variants in a large Chinese Gitelman syndrome cohort |
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✓ |
✓ |
Chinese |
| Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by <i>SOX5</i> haploinsufficiency |
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✓ |
✓ |
Spanish |
| Delineating the phenotype of <i>PNPLA8</i>‐related mitochondriopathies |
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| Issue Information |
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| A X‐linked nonsense <i>APOO/MIC26</i> variant causes a lethal mitochondrial disease with progeria‐like phenotypes |
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| Compound heterozygous variants in <i>RAB34</i> in a rare skeletal ciliopathy syndrome |
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| Recurrence of a <scp><i>BBS1</i></scp> variant in <scp>Bardet–Biedl</scp> patients from Prince Edward Island |
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| From pollakiuria to Donnai‐Barrow syndrome diagnosis in pediatric age |
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| Low risk of embryonic and other cancers in <i>PIK3CA</i><scp>‐related</scp> overgrowth spectrum: Impact on screening recommendations |
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| Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic <i>DHX16</i> variant |
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| Pathogenic variants in <i>SOX11</i> mimicking <scp>Pitt‐Hopkins</scp> syndrome phenotype |
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| Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in <scp>Australia</scp> and <scp>New Zealand</scp> |
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| A novel in‐frame deletion in <i>MYOT</i> causes an early adult onset distal myopathy |
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| Issue Information |
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| Biallelic <i>ANKS6</i> null variants cause notable extrarenal phenotypes in a nephronophthisis patient and lead to hepatobiliary abnormalities by <scp>YAP1</scp> deficiency |
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| A deep intronic <scp><i>DLG4</i></scp> variant resulting in <scp><i>DLG4</i></scp>‐related synaptopathy |
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| Genetic findings in <scp>Czech</scp> patients with limb girdle muscular dystrophy |
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✓ |
✓ |
Czech ("Czech LGMD population") |
| Human phenotype caused by biallelic <i>KDM4B</i> frameshift variant |
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| Genetic and phenotypic diversities of nevus spilus phenotypes: Case series and a proposed diagnostic algorithm |
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| Inherited <scp>CSNK2A1</scp> variants in families with <scp>Okur‐Chung</scp> neurodevelopmental syndrome |
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| Motivations to learn genomic information are not exceptional: Lessons from behavioral science |
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| <scp>GPI</scp>‐anchoring disorders and the heart: Is cardiomyopathy an overlooked feature? |
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| Novel Tu translation elongation factor, mitochondrial (<i>TUFM</i>) homozygous variant in a consanguineous family with premature ovarian insufficiency |
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| Congenital heart defects in <i>CTNNB1</i> syndrome: Raising clinical awareness |
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| <scp>Genotype‐phenotype</scp> analysis of selective failure of tooth eruption—A systematic review |
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| Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage |
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| <scp><i>DST</i></scp> variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type <scp>VI</scp> hereditary sensory autonomic neuropathy |
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| Mutation profile of <scp>Bardet‐Biedl</scp> syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern |
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| A novel homozygous missense variant in <i>TBC1D31</i> in a consanguineous family with congenital anomalies of the kidney and urinary tract (<scp>CAKUT</scp>) |
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| Filling the gap: Genetic risk assessment in hypercholesterolemia using <scp>LDL‐C</scp> and <scp>LPA</scp> genetic scores |
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| Issue Information |
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| Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel <scp><i>GTF2H5</i></scp> homozygous truncating variant |
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| Performance of the <scp>ACMG‐AMP</scp> criteria in a large familial renal glucosuria cohort with identified <scp><i>SLC5A2</i></scp> sequence variants |
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| Spanish mental health residents' perspectives about residency education on the genetics of psychiatric disorders: A cross‐sectional survey |
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| Medical and psychosocial outcomes of state‐funded population genomic screening |
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| Intratumor heterogeneity in colorectal cancer: Distribution of tumor suppressor gene variants with regard to patient lymph node status |
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| Identification of copy number variants with genome sequencing: Clinical experiences from the <scp>NYCKidSeq</scp> program |
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| A homozygous frameshift variant in <i>SYCP2</i> caused meiotic arrest and non‐obstructive azoospermia |
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| Nonsense variant in a consanguineous family expands the phenotype of <i>KPTN</i> gene‐related syndrome to include hearing impairment |
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| <scp><i>MIR204</i></scp> n.<scp>37C</scp>>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early‐onset cataracts and congenital glaucoma |
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✓ |
✓ |
Czech |
| A homozygous founder variant in <scp><i>PDE2A</i></scp> causes paroxysmal dyskinesia with intellectual disability |
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| Biallelic loss of function variant in <scp><i>ZNF808</i></scp> is associated with <scp>non‐syndromic</scp> neonatal diabetes |
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| De‐novo “germline second hit” loss‐of‐heterozygosity <i>RBP3</i> deletion mutation causing recessive high myopia |
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| Development and validation of a novel nomogram to predict the impact of the polymorphism of the <i>ICAM‐1</i> gene on the prognosis of ischemic cardiomyopathy |
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| A recessive <scp><i>ACTL7A</i></scp> founder variant leads to male infertility due to acrosome detachment in <scp>Pakistani Pashtuns</scp> |
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| Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application |
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| Pathogenic bi‐allelic variants of meiotic <scp>ZMM</scp> complex gene <scp><i>SPO16</i></scp> in premature ovarian insufficiency |
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| Analysis of a non‐lethal biallelic frameshift mutation in <scp><i>ZMPSTE24</i></scp> reveals utilization of alternative translation initiation codons |
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✓ |
✓ |
Pakistani |
| Issue Information |
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| <scp>GNAS</scp> gene mutations affecting <scp><i>XLαs</i></scp> and bone health: A long neglected relationship |
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| Functional characterization of a novel <scp><i>PRRT2</i></scp> variant found in a Portuguese patient with hemiplegic migraine |
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✓ |
✓ |
Portuguese |
| Investigating genotype‐to‐phenotype correlation in <scp>CHARGE</scp> syndrome by deep phenotyping and multiparametric clustering |
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| Lymphedema is associated with <i>CELSR1</i> in <scp>Phelan–McDermid</scp> syndrome |
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| Morphological and genetic causes of fetal cardiomyopathies |
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| A novel homozygous variant in <i>ZFP36L2</i> cause female infertility due to oocyte maturation defect |
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| Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis |
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| Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals |
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| Characterization of novel <scp><i>CACNA1A</i></scp> splice variants by <scp>RNA</scp>‐sequencing in patients with episodic or congenital ataxia |
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| A founder <i>PPIL1</i> variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia |
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| Novel biallelic variants expand the phenotype of <scp>NAA20</scp>‐related syndrome |
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| Pigmentation abnormalities in <scp>Coffin‐Siris</scp> syndrome |
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| <scp>POU3F3</scp>‐related disorder: Defining the phenotype and expanding the molecular spectrum |
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| Functional characterization of novel or yet uncharacterized <i>ATP7B</i> missense variants detected in patients with clinical Wilson's disease |
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| Genome sequencing identifies <i>KMT2E</i>‐disrupting cryptic structural variant in a female with O'Donnell‐Luria‐Rodan syndrome |
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| Novel <i>LSS</i> variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of <i>LSS</i>‐related rare disease traits |
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| Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia |
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| Issue Information |
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| Expanding the phenotype of <scp><i>PIGP</i></scp> deficiency to multiple congenital anomalies‐hypotonia‐seizures syndrome |
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| Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, <scp>RPL13</scp>‐related: Description of 11 further cases |
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| A synonymous codon variant altering splicing of <i>RBCK1</i> expands the phenotype and genotype spectra of polyglucosan body myopathy 1 |
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| Possible biallelic inheritance in <i>TIE1</i> in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia |
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| Genetic risk for Huntington Disease and reproductive decision‐making: A systematic review |
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| Support to caregivers who have received genetic information about neurodevelopmental and psychiatric vulnerability in their young children: A narrative review |
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| <i>RNASEH2C</i> c.<scp>194G</scp>>A is a Chinese‐specific founder mutation in three unrelated patients with <scp>Aicardi‐Goutières</scp> syndrome 3 |
|
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✓ |
✓ |
Chinese-specific; South Asian; other ethnicities |
| Discovering the <scp><i>ANK2</i></scp>‐related autism phenotype |
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| Revisiting <i>TOP2B</i>‐related phenotypes: Three new cases and literature review |
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| Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital <scp>PCR</scp> |
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| Clinical and molecular spectrum of a large Egyptian cohort with <scp><i>ALS2</i></scp>‐related disorders of infantile‐onset of clinical continuum <scp>IAHSP</scp>/<scp>JPLS</scp> |
|
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✓ |
✓ |
Egyptian; single ethnic cohort |
| Steroid‐resistant nephrotic syndrome caused by nuclear pore gene <scp>NUP133</scp> variation |
|
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| Identification of bi‐allelic <i>LFNG</i> variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 |
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| Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study |
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| Compound heterozygous variants in <scp><i>WLS</i></scp> gene causes <scp>Zaki</scp> syndrome |
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✓ |
✓ |
Chinese population |
| A recurrent de novo variant in <scp><i>NUSAP1</i></scp> escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay |
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| Issue Information |
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| Direct‐to‐consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services |
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| Missense mutation of c.<scp>635 T</scp> > C in <scp><i>CAPN3</i></scp> impairs muscle injury repair in a <scp>Limb‐Girdel</scp> Muscular Dystropy Model |
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| Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh‐frozen breast/ovarian tumor versus blood |
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| The genetics of incontinence: A scoping review |
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| Use of a web‐based portal to return normal individual research results in Early Check: Exploring user behaviors and attitudes |
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| Clinical heterogeneity of <scp><i>NADSYN1</i></scp>‐associated <scp>VCRL</scp> syndrome |
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| Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type <scp>II</scp> in China: A retrospective, observational study |
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| Missense variant in <i>RBM10</i> associated with mild and non‐lethal form of <scp>TARP</scp> syndrome |
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| <i>HRAS</i>‐related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects |
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| The prevalence and phenotypic range associated with biallelic <scp><i>PKDCC</i></scp> variants |
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| An <i>FBN1</i> deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family |
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| Issue Information |
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| Systematic evaluation of narrow‐sense validity of polygenic risk score for prostate cancer in a Chinese prostate biopsy cohort |
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✓ |
✓ |
Chinese; ChinaPCa dataset; Chinese prostate biopsy cohort |
| Constitutional mosaicism for a pathogenic variant in <i>MEN1</i> associated with multiple endocrine neoplasia type <scp>I</scp> syndrome |
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| Free carnitine concentrations and biochemical parameters in medium‐chain <scp>acyl‐CoA</scp> dehydrogenase deficiency: Genotype–phenotype correlation |
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| Progress on the study of Popeye domain‐containing 3 (<scp>POPDC3</scp>) in malignancies and striated muscle function and homeostasis |
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| Origins of <scp>SOPH</scp> syndrome: A study of 93 Yakut patients with review of C‐terminal phenotype |
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| Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy |
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| A novel de novo variant in the <i>PHF21A</i> causes craniofacial abnormalities, intellectual disability and skeletal manifestations |
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| Two new cases with novel pathogenic variants reflecting the clinical diversity of <scp>Schaaf‐Yang</scp> syndrome |
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✓ |
✓ |
Turkish |
| Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review |
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| Variants of <scp><i>LRP2</i></scp>, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy |
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| Compound heterozygous splicing variants expand the genotypic spectrum of <scp><i>EMC1</i></scp>‐related disorders |
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| Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis |
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| Broad spectrum of anomalies including quadricuspid aortic valve associated with a novel frameshift <scp><i>SALL4</i></scp> variant |
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| Further case of enlarged spinal nerve roots in <i>KRAS</i>‐related Noonan syndrome |
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| Updated protocol for genetic testing, screening and clinical management of individuals at risk of <i>NF2</i>‐related schwannomatosis |
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| Issue Information |
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| Biallelic intragenic tandem duplication of <i>CPLANE1</i> in Joubert syndrome: A case report |
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| <scp>DNA</scp> methylation signature classification of rare disorders using publicly available methylation data |
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| Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing |
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| A progressive <scp>KY</scp> myopathy could be caused by a missense pathogenic variant |
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| Further delineation of dosage‐sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance |
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| The family reported to have X‐linked <scp>Dyggve–Melchior–Clausen</scp> syndrome instead has X‐linked <scp>SEDT</scp> caused by a novel <scp>TRAPPC2</scp> frameshift variant |
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| Identification of <i>POLR3B</i> biallelic mutations‐associated hypomyelinating leukodystrophy‐8 in two siblings |
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| Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia |
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| Possible association of trichorhinophalangeal syndrome I and intracranial subependymoma |
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| Imagawa–Matsumoto syndrome: <i>SUZ12</i>‐related overgrowth disorder |
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| Mosaic variegated aneuploidy syndrome 2 with biallelic novel <scp><i>CEP57</i></scp> splice site variation in Indian siblings: Expanding the clinical and molecular spectrum |
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✓ |
✓ |
Indian |
| Issue Information |
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| <scp>DKK1</scp> is a strong candidate for mesiodens and taurodontism |
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| Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses |
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✓ |
✓ |
Japanese |
| Novel variants in <scp><i>ACTL7A</i></scp> and <scp><i>PLCZ1</i></scp> are associated with male infertility and total fertilization failure |
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| Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination |
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| Expanding the spectrum of <i>EEF1D</i> neurodevelopmental disorders: Biallelic variants in the guanine exchange domain |
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| Three <scp>KINSSHIP</scp> syndrome patients with mosaic and germline <scp><i>AFF3</i></scp> variants |
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✓ |
✓ |
Japanese ("three unrelated Japanese patients") |
| Genomic characterization of thymic epithelial tumors reveals critical genes underlying tumorigenesis and poor prognosis |
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| A novel <scp>PLS1</scp> c.981+<scp>1G</scp>>A variant causes autosomal‐dominant hereditary hearing loss in a family |
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✓ |
✓ |
Chinese |
| Copy number variations in <i>SPAST</i> and <i>ATL1</i> are rare among <scp>Brazilians</scp> |
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| Expanding the sperm phenotype caused by mutations in <scp><i>SPATA20</i></scp>: A novel splicing mutation in an infertile patient with partial globozoospermia |
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| Novel homozygous variant of <scp><i>CCIN</i></scp> causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype |
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| Evaluation of out‐of‐pocket pay genetic testing in a publicly funded healthcare system |
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| Expansion of the phenotypic and molecular spectrum of <scp>CWF19L1</scp>‐related disorder |
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