| Issue Information |
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| Congenital hypothyroidism and hearing loss without inner ear malformation: Think <scp><i>TPO</i></scp> |
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| <i>Clinical Genetics</i> paving the way to the future |
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| Molecular intrinsic versus clinical subtyping in breast cancer: A comprehensive review |
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| Progress on the role of extrachromosomal <scp>DNA</scp> in tumor pathogenesis and evolution |
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| Biallelic mutations of <scp><i>CFAP58</i></scp> are associated with multiple morphological abnormalities of the sperm flagella |
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| Dominant variants in <scp><i>PRR12</i></scp> result in unilateral or bilateral complex microphthalmia |
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| Infantile Liver Failure Syndrome 1 associated with a novel variant of the <scp><i>LARS1</i></scp> gene: Clinical, genetic, and functional characterization |
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| Novel <scp><i>ACTG2</i></scp> variants disclose allelic heterogeneity and bi‐allelic inheritance in pediatric chronic intestinal <scp>pseudo‐obstruction</scp> |
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| Neuropsychological study in 19 French patients with <scp>White‐Sutton</scp> syndrome and <scp><i>POGZ</i></scp> mutations |
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| A novel stop codon variant affecting <scp>ΔNp63</scp> isoforms associated with non‐syndromic <scp>limb‐mammary</scp> phenotype and uterine cervix dysplasia |
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| Indigenous Arabs have an intermediate frequency of a Neanderthal‐derived <scp>COVID</scp>‐19 risk haplotype compared with other world populations |
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| Molecular and histologic insights on early onset cardiomyopathy in Danon disease females |
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| Functional evidence of <scp>mTORβ</scp> splice variant involvement in the pathogenesis of congenital heart defects |
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| Selective forces acting on spinocerebellar ataxia type 3/<scp>Machado–Joseph</scp> disease recurrency: A systematic review and meta‐analysis |
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| <scp>Genotype‐phenotype</scp> study and expansion of <scp><i>ARL6IP1</i>‐related</scp> complicated hereditary spastic paraplegia |
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| Issue Information – Editorial Board |
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| Deficiency of <scp>acyl‐CoA</scp> synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset |
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| Genotype <scp><i>FBN1</i></scp>/phenotype relationship in a cohort of patients with Marfan syndrome |
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| Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review |
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| Genetic spectrum of <scp>Charcot–Marie–Tooth</scp> disease associated with myelin protein zero gene variants in Japan |
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| A <scp><i>BBS1</i> SVA</scp> F retrotransposon insertion is a frequent cause of <scp>Bardet‐Biedl</scp> syndrome |
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| PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations |
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| A review on age‐related cancer risks in <scp>PTEN</scp> hamartoma tumor syndrome |
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| Identification of the third <scp><i>FGF9</i></scp> variant in a girl with multiple synostosis–comparison of the genotype:phenotype of <scp><i>FGF9</i></scp> variants in humans and mice |
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| Expanding the molecular spectrum and the neurological phenotype related to <scp><i>CAMTA1</i></scp> variants |
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| An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the <scp><i>OTUD5</i></scp> gene |
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| <scp>Parkes‐Weber</scp> syndrome related to <scp><i>RASA1</i></scp> mosaic mutation |
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| <scp><i>WDR34</i></scp>, a candidate gene for non‐syndromic rod‐cone dystrophy |
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| A novel monogenic preimplantation genetic testing strategy for sporadic polycystic kidney caused by <i>de novo</i><scp><i>PKD1</i></scp> mutation |
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| Psychosis in <scp>NUS1</scp> de novo mutation: New phenotypical presentation |
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| Clinical application of a phenotype‐based <scp>NGS</scp> panel for differential diagnosis of inherited kidney disease and beyond |
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| Vestibular <scp>phenotype‐genotype</scp> correlation in a cohort of 90 patients with Usher syndrome |
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| Novel loss‐of‐function variants in <scp><i>DNAH17</i></scp> cause multiple morphological abnormalities of the sperm flagella in humans and mice |
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✓ |
✓ |
Pakistani and Chinese origins |
| Bifid nose as the sole manifestation of <scp>BNAR</scp> syndrome, a <scp><i>FREM1</i></scp>‐related condition |
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| Issue Information |
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| An additional piece in the <scp><i>TBX6</i></scp> gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis |
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| Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology |
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| Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the <scp>EARLY PRO‐TECT</scp> Alport trial |
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| Exploring genotype‐phenotype relationships in the <scp>CDKL5</scp> deficiency disorder using an international dataset |
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| Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers |
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| Genetic disorders with central nervous system white matter abnormalities: An update |
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| Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo‐exon activation in the <scp><i>BLM</i></scp> gene |
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| Age of onset and behavioral manifestations in Huntington's disease: An <scp>Enroll‐HD</scp> cohort analysis |
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| <scp><i>QRICH1</i></scp> variants in <scp>Ververi‐Brady</scp> syndrome—delineation of the genotypic and phenotypic spectrum |
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| Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest |
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| Mutation analysis of tubulin beta 8 class <scp>VIII</scp> in infertile females with oocyte or embryonic defects |
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| Heterozygous de novo variants in <scp><i>CSNK1G1</i></scp> are associated with syndromic developmental delay and autism spectrum disorder |
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| Copy number alterations involving 59 <scp>ACMG</scp>‐recommended secondary findings genes |
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| Novel <scp><i>GZF1</i></scp> pathogenic variants identified in two Chinese patients with Larsen syndrome |
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✓ |
✓ |
Chinese |
| Hydrothorax in fetal cases of Opitz G/<scp>BBB</scp> diagnosis: Extending the phenotype? |
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| Variability of non‐lethal Fowler syndrome phenotype associated with <scp>FLVCR2</scp> variants |
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| Issue Information – Editorial Board |
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| Front Cover |
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| Identification of a novel de novo mutation of <scp><i>ENG</i></scp> gene in a fetus with pulmonary arteriovenous malformation |
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| Biallelic variants in <scp><i>GLE1</i></scp> with survival beyond neonatal period |
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| Comprehensive <scp>genotype‐phenotype</scp> correlation in <scp>AP</scp>‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients |
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✓ |
✓ |
Iranian |
| Identifying haplotypes in recessive inherited retinal dystrophies using <scp>whole‐genome linked‐read</scp> sequencing |
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| The evolution of the nosology of osteogenesis imperfecta |
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| <scp><i>MYORG</i></scp> gene disease‐causing variants in a family with primary familial brain calcification presenting with stroke‐like episodes |
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| Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, <scp>EVIDENCE</scp> |
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| Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency |
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| Homozygous <scp><i>GLUL</i></scp> deletion is embryonically viable and leads to glutamine synthetase deficiency |
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| Issue Information – Editorial Board |
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| <scp><i>EMC10</i></scp> homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay |
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| Premature aging disorders: A clinical and genetic compendium |
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| Spectrum and frequencies of non <scp><i>GJB2</i></scp> gene mutations in Czech patients with early non‐syndromic hearing loss detected by gene panel NGS and whole‐exome sequencing |
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| <scp><i>ASAH1</i></scp>‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype |
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✓ |
✓ |
Egyptian |
| A novel missense variant in <scp><i>RBM10</i></scp> can cause a mild form of <scp>TARP</scp> syndrome with developmental delay and dysmorphic features |
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| Novel pathogenic <scp><i>EIF2S3</i></scp> missense variants causing clinically variable <scp>MEHMO</scp> syndrome with impaired <scp>eIF2γ</scp> translational function, and literature review |
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| Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia |
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| Arteriovenous malformation phenotype resembling congenital hemangioma contains <scp><i>KRAS</i></scp> mutations |
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| Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (<scp>MAC</scp>) from a consanguineous population |
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| Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis |
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| Homozygous <scp><i>TAF1C</i></scp> variants are associated with a novel childhood‐onset neurological phenotype |
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| Ethical questions concerning newborn genetic screening |
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| Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (<i><scp>H19</scp>/<scp>IGF2</scp></i>:<scp>TSS‐DMR</scp>) in 11p15.5 |
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| Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia |
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✓ |
✓ |
German |
| Craniosynostosis‐microphthalmia syndrome belongs to the spectrum of <scp><i>BCOR</i></scp>‐related disorders |
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| Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights |
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| Compound heterozygous splicing <scp><i>CDON</i></scp> variants result in isolated ocular coloboma |
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| Clinical features and underlying genetic causes in neonatal encephalopathy: A large cohort study |
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✓ |
✓ |
Chinese patients |
| Evidence of the milder phenotypic spectrum of c.<scp>1582G</scp>>A <scp><i>PIGT</i></scp> variant: Delineation based on seven novel Polish patients |
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✓ |
✓ |
Polish patients |
| Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late |
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✓ |
✓ |
Italian cohort |
| Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel <scp><i>TUBβ4A</i></scp> mutation |
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| Inherited cases of <scp><i>CNOT3</i></scp>‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
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| Siblings with a novel <scp><i>MED12</i></scp> variant and Odho syndrome with immune defects |
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| <scp>COG6‐CDG</scp>: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development |
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| Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene <scp><i>ATOH1</i></scp> |
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| Loss‐of‐function mutation in <scp><i>DNAH8</i></scp> induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella |
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| Carrier screening of spinal muscular atrophy in North Indian population and its public health implications |
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✓ |
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North Indian population |
| Combined in vitro and in silico analyses of <scp>FGFR1</scp> variants: genotype‐phenotype study in idiopathic hypogonadotropic hypogonadism |
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✓ |
✓ |
Chinese population of central China |
| Issue Information – Editorial Board |
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| Biallelic variants in <scp><i>PPP1R13L</i></scp> cause paediatric dilated cardiomyopathy |
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| A homozygous <scp><i>HOXA11</i></scp> variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract |
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| Description of a family with X‐linked oculo‐auriculo‐vertebral spectrum associated with polyalanine tract expansion in <scp><i>ZIC3</i></scp> |
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| Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result |
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| Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of <scp><i>PDCL3</i></scp> as a novel candidate gene |
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| A homozygous pathogenic variant in <scp><i>SHROOM3</i></scp> associated with anencephaly and cleft lip and palate |
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| <i>De novo</i> missense variants in the <scp><i>RAP1B</i></scp> gene identified in two patients with syndromic thrombocytopenia |
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| Pituitary stalk interruption syndrome broadens the clinical spectrum of the <scp>TTC26</scp> ciliopathy |
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| An exome‐wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes |
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| Phenotypic bases of <scp><i>NOTCH2NLC</i> GGC</scp> expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort |
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| The role of long non‐coding <scp>RNAs</scp> in drug resistance of cancer |
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| A homozygous stop gain mutation in <scp><i>BOD1</i></scp> gene in a Lebanese patient with syndromic intellectual disability |
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✓ |
✓ |
Lebanese; Iranian |
| Novel <scp><i>PCNT</i></scp> variants in <scp>MOPDII</scp> with attenuated growth restriction and pachygyria |
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| Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling |
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| Issue Information – Editorial Board |
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| Expanding the phenotypic spectrum consequent upon de novo <scp><i>WDR37</i></scp> missense variants |
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✓ |
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| Genotype‐phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review |
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| Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies |
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| Gene editing technology for improving life quality: A dream coming true? |
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| Next‐generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population |
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| <scp><i>MECP2</i></scp> mutation spectrum and its clinical characteristics in a Chinese cohort |
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| Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity |
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| A novel ribosomal protein <scp>S20</scp> variant in a family with unexplained colorectal cancer and polyposis |
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| Issue Information |
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| Refinement of the clinical and mutational spectrum of <scp>UBE2A</scp> deficiency syndrome |
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| Prenatal exome sequencing in fetuses with congenital heart defects |
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| Clinical and radiological characterization of novel <scp><i>FIG4</i></scp>‐related combined system disease with neuropathy |
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| Genetic predisposition in type 2 diabetes: A promising approach toward a personalized management of diabetes |
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| A homozygous variant in <scp><i>NDUFA8</i></scp> is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency |
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| Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a <scp>23‐case</scp> series |
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| A strategy using <scp>SNP</scp> linkage analysis for monogenic diseases <scp>PGD</scp> combined with <scp>HLA</scp> typing |
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| <scp><i>GREB1L</i></scp> variants in familial and sporadic hereditary urogenital adysplasia and <scp>Mayer‐Rokitansky‐Kuster‐Hauser</scp> syndrome |
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| High prevalence of <scp>Bardet‐Biedl</scp> syndrome in <i>La Réunion</i><scp>Island</scp> is due to a founder variant in <i>ARL6/BBS3</i> |
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| Complete resolution of epileptic spasms with vigabatrin in a patient with 3‐methylglutaconic aciduria caused by <scp><i>TIMM50</i></scp> gene mutation |
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| A novel <scp><i>TRAF3IP2</i></scp> variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans |
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✓ |
✓ |
consanguineous Lebanese family |
| Deletions of specific exons of <scp><i>FHOD3</i></scp> detected by next‐generation sequencing are associated with hypertrophic cardiomyopathy |
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| <scp>Next‐generation</scp> sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability |
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| <scp><i>HNRNPH1</i></scp>‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome |
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| Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature |
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| A small 7q11.23 microduplication involving <scp><i>GTF2I</i></scp> in a family with intellectual disability |
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| Genetic Consultations in the Newborn. Robin D.Clark and Cynthia JCurry. Oxford University Press, 2019. <scp>ISBN</scp> 978‐0‐19‐999 099‐3 |
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| <scp><i>ADAMTS19</i></scp>‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype |
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| Front Cover |
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| Issue Information |
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| Kosaki overgrowth syndrome: A novel pathogenic variant in <scp><i>PDGFRB</i></scp> and expansion of the phenotype including cerebrovascular complications |
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| Novel mutations in <scp><i>PMFBP1</i></scp>, <scp><i>TSGA10</i></scp> and <scp><i>SUN5</i></scp>: Expanding the spectrum of mutations that may cause acephalic spermatozoa |
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| <scp><i>PDCD6IP</i></scp>, encoding a regulator of the <scp>ESCRT</scp> complex, is mutated in microcephaly |
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| Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss |
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✓ |
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European populations |
| Further delineation of the female phenotype with <scp><i>KDM5C</i></scp> disease causing variants: 19 new individuals and review of the literature |
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| <scp><i>VEGFA</i></scp> variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum |
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| New insight into the role of substance P/neurokinin‐1 receptor system in breast cancer progression and its crosstalk with <scp>microRNAs</scp> |
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| Primrose syndrome: Characterization of the phenotype in 42 patients |
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| Epigenetic variations due to nutritional status in early‐life and its later impact on aging and disease |
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| Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy |
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✓ |
✓ |
Chinese |
| A novel homozygous variant in <scp><i>NLRP5</i></scp> is associate with human early embryonic arrest in a consanguineous Chinese family |
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✓ |
✓ |
Chinese |
| Overlapping phenotypes between <scp>SHORT</scp> and Noonan syndromes in patients with <scp><i>PTPN11</i></scp> pathogenic variants |
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| Genetics of feline hypertrophic cardiomyopathy |
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| A nonsense variant in <scp><i>NME5</i></scp> causes human primary ciliary dyskinesia with radial spoke defects |
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| A genome‐wide association study identifies <scp><i>FSHR</i></scp> rs2300441 associated with follicle‐stimulating hormone levels |
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✓ |
✓ |
Chinese females |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel <scp><i>MFF</i></scp> gene mutation in a young child |
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✓ |
✓ |
Indian descent |
| A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis |
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| When to think outside the autozygome: Best practices for exome sequencing in “consanguineous” families |
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| Clinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variants |
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| Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early‐onset and fast cyst progression |
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| Front Cover |
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| Issue Information – Editorial Board |
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| A paternally inherited non‐sense variant c.424G>T (p.G142*) in the first exon of <i>XLαs</i> in an adult patient with hypophosphatemia and osteopetrosis |
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| B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature |
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| Exploring the genetic pathogenicity of aortic dissection from 72 Han Chinese individuals using next‐generation sequencing |
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✓ |
✓ |
Han Chinese |
| First report of childhood progressive cerebellar atrophy due to compound heterozygous <i>MTFMT</i> variants |
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| PGT‐A preimplantation genetic testing for aneuploidies and embryo selection in routine ART cycles: Time to step back? |
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| DNA methylation changes in cystic fibrosis: Cause or consequence? |
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| A <scp><i>GLI3</i></scp> variant leading to polydactyly in heterozygotes and Pallister‐Hall‐like syndrome in a homozygote |
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| A recurrent pathogenic variant in <scp><i>TPM2</i></scp> reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome‐related disorders |
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| upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts |
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| Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy |
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| Novel phenotype of syndromic premature ovarian insufficiency associated with <scp><i>TP63</i></scp> molecular defect |
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| Functional analysis of <scp><i>SEMA3A</i></scp> variants identified in Chinese patients with isolated hypogonadotropic hypogonadism |
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✓ |
✓ |
Chinese |
| Issue Information – Editorial Board |
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| Front Cover |
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| “RE: Lin JL, et al. ‘Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.’ <i>Clin Genet</i>. 2015;88(3):255‐260” |
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| New missense variants in <i>RELT</i> causing hypomineralised amelogenesis imperfecta |
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✓ |
✓ |
UK Pakistani population |
| The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort |
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✓ |
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predominantly European ancestry |
| Genetic basis of neurodevelopmental disorders in 103 Jordanian families |
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| Molecular characterization of Spanish patients with <i>MECP2</i> duplication syndrome |
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✓ |
✓ |
Spanish |
| Genetics of Wilson disease and Wilson‐like phenotype in a clinical series from eastern Spain |
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| Applications of CRISPR‐Cas9 in gynecological cancer research |
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| Longitudinal outcomes with cancer multigene panel testing in previously tested<i>BRCA1/2</i>negative patients |
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✓ |
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| <i>LEF1</i> haploinsufficiency causes ectodermal dysplasia |
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| Clinical and pathological characterization of <scp><i>FLNC</i></scp>‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese |
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| Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes |
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| An <i>M1AP</i> homozygous splice‐site mutation associated with severe oligozoospermia in a consanguineous family |
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| The third family with TAF6‐related phenotype: Alazami‐Yuan syndrome |
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| Report of the first patient with a homozygous <i>OTUD7A</i> variant responsible for epileptic encephalopathy and related proteasome dysfunction |
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| Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect |
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| The p.Arg377Trp variant in <i>ACTL6A</i> underlines a recognizable BAF‐opathy phenotype |
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| Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of <scp><i>PIAS4</i></scp> as the major contributor |
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| Next‐generation sequencing through multi‐gene panel testing for diagnosis of hereditary ichthyosis in Chinese |
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✓ |
✓ |
Chinese |
| Issue Information ‐ Editorial Board |
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| Front Cover |
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| Genetic and epigenetic regulation of abdominal aortic aneurysms |
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| Variants in <i>NGLY1</i> lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction |
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| Novel EWSR1‐VGLL1 fusion in a pediatric neuroepithelial neoplasm |
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| Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis |
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| Bivariate genome‐wide association analysis identified three pleiotropic loci underlying osteoporosis and obesity |
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| Diffuse capillary malformation with overgrowth contains somatic <i>PIK3CA</i> variants |
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| Novel ZP1 pathogenic variants identified in an infertile patient and a successful live birth following ICSI treatment |
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| A splice site mutation c.1251G>A of <i>ISPD</i> gene is a common cause of congenital muscular dystrophy in Chinese patients |
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✓ |
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Chinese patients |
| The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes |
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| Three novel patients with epileptic encephalopathy due to biallelic mutations in the <scp><i>PLCB1</i></scp> gene |
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| Non‐syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies |
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| Phenotypic spectrum of <i>TGFB3</i> disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient |
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| Confirming the recessive inheritance of <i>PERP</i>‐related erythrokeratoderma |
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| Diagnostic strategy for females suspected of Fabry disease |
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| New evidence that biallelic loss of function in <i>EEF1B2</i> gene leads to intellectual disability |
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| Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants <i>of ADCY6</i> |
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| Adult onset tubulo‐interstitial nephropathy in MT‐ND5‐related phenotypes |
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| Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease |
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| Toni Mochty: Bardet Biedl syndrome “avant la lettre” |
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