| Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of <scp><i>SLC31A1</i></scp> |
|
|
|
|
|
|
|
|
|
| <scp>ROSAH</scp> syndrome mimicking chronic uveitis |
|
|
|
|
|
|
|
|
|
| Novo pathogenic variations of <i>NLRP7</i> increasing the risk of gestational trophoblastic neoplasia |
|
|
|
|
|
|
|
|
|
| Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in <i>TOP3A</i> gene |
|
|
|
|
|
|
|
|
|
| A novel biallelic nonsense variant in <scp><i>SLC38A3</i></scp> causing epileptic encephalopathy in an Indian family |
|
|
|
|
|
|
✓ |
|
Indian family |
| Strategies for activity analysis of single nucleotide polymorphisms associated with human diseases |
|
|
|
|
|
|
|
|
|
| Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil |
|
|
|
|
|
|
|
|
|
| Natural history of clinical features in two brothers with acromesomelic dysplasia related to <i>PRKG2</i> |
|
|
|
|
|
|
|
|
|
| Novel homozygous variant in <scp><i>ARL2BP</i></scp> associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| Issue Information |
|
|
|
|
|
|
|
|
|
| A comprehensive functional analysis on the pathogenesis of novel <scp><i>TSPAN12</i></scp> and <scp><i>NDP</i></scp> variants in familial exudative vitreoretinopathy |
|
|
|
|
|
|
|
|
|
| Perinatal presentations of non‐immune hydrops fetalis due to recessive <i>PIEZO1</i> disease: A challenging fetal diagnosis |
|
|
|
|
|
|
|
|
|
| Novel de novo <scp>ZNF148</scp> truncating variant causing autism spectrum disorder, attention deficit hyperactivity disorder, and intellectual disability |
|
|
|
|
|
|
|
|
|
| A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in <scp><i>UBE3B</i></scp> and review of the literature |
|
|
|
|
|
|
|
|
|
| Identification of nonfunctional <scp>SPATA20</scp> causing acephalic spermatozoa syndrome in humans |
|
|
|
|
|
|
|
|
|
| Aminoacylation‐defective bi‐allelic mutations in human <scp>EPRS1</scp> associated with psychomotor developmental delay, epilepsy, and deafness |
|
|
|
|
|
|
|
|
|
| Putative founder effect of Arg338* <scp><i>AP4M1</i></scp> (<scp>SPG50</scp>) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families |
|
|
|
|
|
|
✓ |
✓ |
Middle East; Turkish origin |
| Loss‐of‐function mutations in <scp><i>CST6</i></scp> cause dry skin, desquamation and abnormal keratosis without hypotrichosis |
|
|
|
|
|
|
✓ |
✓ |
Chinese origin |
| New insights in efficacy of different enzyme replacement therapy dosages in Fabry disease: Switch studies data following agalsidase beta shortage |
|
|
|
|
|
|
|
|
|
| Genetic screening in patients with ovarian dysfunction |
|
|
|
|
|
|
|
|
|
| Novel <scp><i>CNNM4</i></scp> variant and clinical features of <scp>J</scp>alili syndrome |
|
|
|
|
|
|
|
|
|
| Recurrent missense variants in clonal hematopoiesis‐related genes present in the general population |
|
|
|
|
|
|
|
|
|
| Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data |
|
|
|
|
|
|
|
|
|
| <i>FGF9</i> variant in 46,<scp>XY DSD</scp> patient suggests a role for dimerization in sex determination |
|
|
|
|
|
|
|
|
|
| A bi‐allelic missense change c.<scp>638A</scp> > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies |
|
|
|
|
|
|
|
|
|
| <scp><i>PIK3CA</i></scp> somatic mutations as potential biomarker for immunotherapy in elder or <scp><i>TP53</i></scp> mutated gastric cancer patients |
|
|
|
|
|
|
|
|
|
| A novel <scp><i>MAP3K7</i></scp> mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting |
|
|
|
|
|
|
|
|
|
| Issue Information |
|
|
|
|
|
|
|
|
|
| Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools |
|
|
|
|
|
|
|
|
|
| Dynamic interplay of <scp>microRNA</scp> in diseases and therapeutic |
|
|
|
|
|
|
|
|
|
| The identification of a novel <scp><i>CCNQ</i></scp> gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome |
|
|
|
|
|
|
|
|
|
| Biallelic variants in <scp><i>CEP164</i></scp> cause a motile ciliopathy‐like syndrome |
|
|
|
|
|
|
|
|
|
| Management of copy number variants associated with incomplete penetrance and variable expressivity—Results of a French survey |
|
|
|
|
|
|
|
|
|
| A novel variant in <scp>AFF3</scp> underlying isolated syndactyly |
|
|
|
|
|
|
|
|
|
| Immunotherapy responsive neuroinflammation in a child with FAS‐associated death‐domain mutation |
|
|
|
|
|
|
|
|
|
| Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord |
|
|
|
|
|
|
|
|
|
| New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the <scp><i>R |
|
|
|
|
|
|
|
|
|
| De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy |
|
|
|
|
|
|
|
|
|
| Delineation of the clinical profile of <scp><i>CNOT2</i></scp> haploinsufficiency and overview of the <scp>IDNADFS</scp> phenotype |
|
|
|
|
|
|
|
|
|
| A novel biallelic variant c.<scp>2219T</scp> > A p.(Leu740*) in <scp><i>ADGRG6</i></scp> as a cause of lethal congenital contracture syndrome 9 |
|
|
|
|
|
|
|
|
|
| Vascular aneurysms in Ehlers‐Danlos syndrome subtypes: A systematic review |
|
|
|
|
|
|
|
|
|
| A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity |
|
|
|
|
|
|
✓ |
✓ |
Asian patients |
| Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing |
|
|
|
|
|
|
✓ |
✓ |
Chinese; Eastern China |
| Issue Information |
|
|
|
|
|
|
|
|
|
| Six case reports of <scp><i>NTHL1</i></scp>‐associated tumor syndrome further support it as a multi‐tumor predisposition syndrome |
|
|
|
|
|
|
|
|
|
| Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease‐associated pathogenic variants |
|
|
|
|
|
|
✓ |
✓ |
Pakistani pediatric patients from South-Asian region |
| The constitutional gain‐of‐function variant p.<scp>Glu1099Lys</scp> in <i>NSD2</i> is associated with a novel syndrome |
|
|
|
|
|
|
|
|
|
| Biallelic variants in the <scp><i>SLC13A1</i></scp> sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia |
|
|
|
|
|
|
|
|
|
| Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations |
|
|
|
|
|
|
|
|
|
| A novel biallelic variant in the Popeye domain‐containing protein 1 (<scp>POPDC1</scp>) underlies limb girdle muscle dystrophy type 25 |
|
|
|
|
|
|
|
|
|
| Loss‐of‐function mutations in <scp><i>SGCE</i></scp> found in Japanese patients with myoclonus‐dystonia |
|
|
|
|
|
|
✓ |
✓ |
Japanese |
| A novel variant in <scp><i>GATM</i></scp> causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease |
|
|
|
|
|
|
|
|
|
| Novel rare mutation in a conserved site of <scp><i>PTPRB</i></scp> causes human hypoplastic left heart syndrome |
|
|
|
|
|
|
|
|
|
| Cerebrotendinous xanthomatosis: A candidate for <scp>ACMG</scp> list of secondary findings? |
|
|
|
|
|
|
|
|
|
| Risk of genetic and epigenetic alteration in children conceived following <scp>ART</scp>: Is it time to return to nature whenever possible? |
|
|
|
|
|
|
|
|
|
| Fanconi anemia caused by biallelic inactivation of <scp><i>BRCA2</i></scp> can present with an atypical cancer phenotype in adulthood |
|
|
|
|
|
|
|
|
|
| A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options |
|
|
|
|
|
|
|
|
|
| Bi‐allelic pathogenic variants in <scp><i>ITGA8</i></scp> cause slowly progressive renal disease of unknown etiology |
|
|
|
|
|
|
|
|
|
| Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with <scp>GPIb</scp> surface expression |
|
|
|
|
|
|
|
|
|
| Issue Information |
|
|
|
|
|
|
|
|
|
| Splice‐site variant in the <scp><i>RPS7</i></scp> 5′‐<scp>UTR</scp> leads to a decrease in the <scp>mRNA</scp> level and development of <scp>Diamond‐Blackfan</scp> anemia |
|
|
|
|
|
|
|
|
|
| Six new cases of <scp>CRB2‐related</scp> syndrome and a review of clinical findings in 28 reported patients |
|
|
|
|
|
|
|
|
|
| Genetic overview of postaxial polydactyly: Updated classification |
|
|
|
|
|
|
|
|
|
| Expanding the spectrum of <i>KCNJ6</i>‐related disorders: Milder phenotype with pathological startle responses |
|
|
|
|
|
|
|
|
|
| Literature review on genotype–phenotype correlation in patients with hereditary spherocytosis |
|
✓ |
|
|
|
|
✓ |
✓ |
Asian countries |
| Expanding the genetic spectrum of tooth agenesis using whole‐exome sequencing |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| A cross‐sectional study on fatigue, anxiety, and symptoms of depression and their relation with medical status in adult patients with <scp>M</scp>arfan syndrome. Psychological consequences in <scp>M</ |
|
|
|
|
|
|
✓ |
✓ |
general Dutch population |
| Novel stop‐gain <scp><i>RNF170</i></scp> variation detected in a Chinese family with adolescent‐onset hereditary spastic paraplegia |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| Hereditary spastic paraparesis presenting as cerebral palsy due to <scp><i>ADD3</i></scp> variant with mechanistic insight provided by a <i>Drosophila</i> γ‐adducin model |
|
|
|
|
|
|
|
|
|
| The oligogenic model of amyotrophic lateral sclerosis; phenotypes of three Tunisian families |
|
|
|
|
|
|
|
|
|
| Dysferlinopathies: Clinical and genetic variability |
|
|
|
|
|
|
|
|
|
| <scp>Diamond‐Blackfan</scp> anaemia caused by a <i>de novo</i> initiation codon mutation resulting in a shorter isoform of GATA1 |
|
|
|
|
|
|
✓ |
✓ |
East Asian population |
| A common intronic single nucleotide variant modifies <scp><i>PKD1</i></scp> expression level |
|
|
|
|
|
|
|
|
|
| Biallelic frameshift variant in the <scp><i>TBC1D2B</i></scp> gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration |
|
|
|
|
|
|
|
|
|
| A Gardos channelopathy associated with nonimmune hydrops and fetal loss |
|
|
|
|
|
|
|
|
|
| Psychiatric genetic counseling for people with copy number variants associated with psychiatric conditions |
|
|
|
|
|
|
|
|
|
| Common and rare variants in patients with early onset drusen maculopathy |
|
|
|
|
|
|
|
|
|
| Variants in <i>HNRNPH1</i> are associated with high myopia in humans and ocular coloboma in zebrafish |
|
|
|
|
|
|
|
|
|
| Consanguineous families with unusually high recurrence risk: A voice to be heard in the germline gene‐editing debate |
|
|
|
|
|
|
|
|
|
| A recurrent homozygous missense <scp><i>DPM3</i></scp> variant leads to muscle and brain disease |
|
|
|
|
|
|
|
|
|
| Looking closely at overgrowth: Constitutional mosaicism in <i>PTEN</i> hamartoma tumor syndrome |
|
|
|
|
|
|
|
|
|
| Issue Information |
|
|
|
|
|
|
|
|
|
| Novel <i>PPP1R13L</i> variant expands the phenotype of a rare cardiocutaneous syndrome |
|
|
|
|
|
|
|
|
|
| Novel mutation in <scp><i>TTC21A</i></scp> triggers partial nonsense‐mediated <scp>mRNA</scp> decay and causes male infertility with <scp>MMAF</scp> |
|
|
|
|
|
|
|
|
|
| The recurrent <scp><i>TCF4</i></scp> missense variant p.(<scp>Arg389Cys</scp>) causes a neurodevelopmental disorder overlapping with but not typical for <scp>Pitt‐Hopkins</scp> syndrome |
|
|
|
|
|
|
|
|
|
| <scp>HIDEA</scp> syndrome is caused by biallelic, pathogenic, rare or founder <i>P4HTM</i> variants impacting the active site or the overall stability of the <scp>P4H‐TM</scp> protein |
|
|
|
|
|
|
|
|
Finnish ("Finnish enriched pathogenic P4HTM variants") |
| Microduplication of <scp><i>BTRC</i></scp> detected in a Chinese family with split hand/foot malformation type 3 |
|
|
|
|
|
|
|
|
|
| Deep intronic variant in <i>MVK</i> as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa |
|
|
|
|
|
|
|
|
|
| <scp>HINT1</scp> neuropathy: Expanding the genotype and phenotype spectrum |
|
|
|
|
|
|
✓ |
✓ |
French |
| Identification of novel rare copy number variants associated with sporadic tetralogy of Fallot and clinical implications |
|
✓ |
|
|
|
|
✓ |
✓ |
Han Chinese |
| Nomograms for prognostic risk assessment in glioblastoma multiforme: Applications and limitations |
|
|
|
|
|
|
|
|
|
| <scp><i>PSMC1</i></scp> variant causes a novel neurological syndrome |
|
|
|
|
|
|
|
|
|
| Expanding the phenotype of <i><scp>DNAJC30</scp>‐</i>associated Leigh syndrome |
|
|
|
|
|
|
|
|
|
| De novo 4q35.2 duplication containing <scp><i>FAT1</i></scp> is associated with autism spectrum disorder |
|
|
|
|
|
|
|
|
|
| A de novo inframe deletion variant in <scp><i>CAPZA2</i></scp> tentacle domain with global developmental delay and secondary microcephaly |
|
|
|
|
|
|
|
|
|
| A novel splice site variant in the <scp><i>POPDC3</i></scp> causes autosomal recessive limb‐girdle muscular dystrophy type 26 |
|
|
|
|
|
|
|
|
|
| Clinical and molecular characterization of patients affected by <scp>Beckwith‐Wiedemann</scp> spectrum conceived through assisted reproduction techniques |
|
|
|
|
|
|
|
|
|
| Evolutionary origin of pathogenic <scp>GJB2</scp> alleles in China |
|
|
|
|
|
|
|
|
|
| A biallelic loss‐of‐function <i>PDIA6</i> variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly |
|
|
|
|
|
|
|
|
|
| Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the <scp>DYRK1A</scp> and the <scp>Wiedemann–Steiner</scp> syndromes |
|
|
|
|
|
|
|
|
|
| Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation |
|
|
|
|
|
|
|
|
|
| Genetics of <scp>non‐isolated</scp> hemivertebra: A systematic review of fetal, neonatal, and infant cases |
|
|
|
|
|
|
|
|
|
| A new <scp><i>SMOC2</i></scp> mutation within selective tooth agenesis, malformed teeth and dentin dysplasia |
|
|
|
|
|
|
|
|
|
| Issue Information |
|
|
|
|
|
|
|
|
|
| Neuronal ceroïd‐lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series |
|
|
|
|
|
|
✓ |
|
maghrebian |
| Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the<scp><i>APOE</i></scp>gene |
|
|
|
|
|
|
|
|
|
| Functional characterization of a <scp><i>JAG1</i></scp> 5'<scp>UTR</scp> variant in a patient with clinically observed Alagille syndrome |
|
|
|
|
|
|
|
|
|
| Mutations in <scp><i>LRP5</i></scp> and <scp><i>BMP4</i></scp> are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses |
|
|
|
|
|
|
|
|
|
| The first Chinese case of Siddiqi syndrome caused by a homozygous <i>FITM2</i> variant |
|
|
|
|
|
|
|
|
|
| Czech family confirms the new 1p36.13‐1p36.12 microdeletion syndrome |
|
|
|
|
|
|
|
|
|
| Clinical and genetic characterization of <scp><i>CACNA1A</i></scp>‐related disease |
|
|
|
|
|
|
|
|
|
| Disorders of histone methylation: Molecular basis and clinical syndromes |
|
|
|
|
|
|
|
|
|
| Issue Information |
|
|
|
|
|
|
|
|
|
| Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey |
|
|
|
|
|
|
|
|
|
| Carriers of <scp><i>COL3A1</i></scp> pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures |
|
|
|
|
|
|
|
|
|
| Novel <scp><i>BMP1</i></scp>, <scp><i>CRTAP</i></scp>, and <scp><i>SERPINF1</i></scp> variants causing autosomal recessive osteogenesis imperfecta |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of a germline variant in <scp><i>TRAF7</i></scp>: Importance of accessibility to prenatal exome sequencing in cases of structural fetal anomalies |
|
|
|
|
|
|
|
|
|
| Progressive frontal intraosseous lipoma: Detection of the mosaic <scp><i>AKT1</i></scp> variant discloses <scp>Proteus</scp> syndrome |
|
|
|
|
|
|
|
|
|
| Further characterization of <scp>Borjeson‐Forssman‐Lehmann</scp> syndrome in females due to de novo variants in <scp><i>PHF6</i></scp> |
|
|
|
|
|
|
|
|
|
| Estimation of familial recurrence risk of malignancy: Application of liability threshold model in genetic counseling |
|
|
|
|
|
|
|
|
|
| Further evidence for distinct traits associated with <scp>RBM10</scp> missense variants |
|
|
|
|
|
|
|
|
|
| Biallelic variants in <scp><i>ZNF142</i></scp> lead to a syndromic neurodevelopmental disorder |
|
|
|
|
|
|
|
|
|
| Further validation of the Perceptions of Uncertainties in Genome Sequencing scale among patients with cancer undergoing tumor sequencing |
|
|
|
|
|
|
|
|
|
| Biallelic variants in <scp><i>PAX3</i></scp> cause Klein syndrome |
|
|
|
|
|
|
|
|
|
| Novel <scp><i>LNPK</i></scp> variant causes progressive cerebral atrophy: Expanding the clinical phenotype |
|
|
|
|
|
|
|
|
|
| Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5% |
|
|
|
|
|
|
|
|
|
| A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel <scp>KCNQ4</scp> mutation (p.<scp>G228D</scp>) from a large Chinese family |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| Expanding the novel <scp><i>MAPKAPK5</i></scp>–related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up |
|
|
|
|
|
|
|
|
|
| Loss of function mutation in <i>DNAH7</i> induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human |
|
|
|
|
|
|
|
|
|
| Decipher non‐canonical <scp><i>SPAST</i></scp> splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (<scp>SPG4</scp>) |
|
|
|
|
|
|
|
|
|
| Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database |
|
|
|
|
|
|
✓ |
✓ |
Amish, Finnish, Middle Eastern, diverse populations |
| Phenotypic expansion and variable expressivity in individuals with <i>JARID2</i>‐related intellectual disability: A case series |
|
|
|
|
|
|
|
|
|
| Genetic clinicians' confidence in <scp>BOADICEA</scp> comprehensive breast cancer risk estimates and counselees' psychosocial outcomes: A prospective study |
|
|
|
|
|
|
|
|
|
| Issue Information |
|
|
|
|
|
|
|
|
|
| Understanding the new <scp><i>BRD4</i></scp>‐related syndrome: Clinical and genomic delineation with an international cohort study |
|
|
|
|
|
|
|
|
|
| A recurrent <i>ZP1</i> variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females |
|
|
|
|
|
|
✓ |
✓ |
North African |
| A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3 |
|
|
|
|
|
|
|
|
|
| <scp>SHP2</scp>'s gain‐of‐function in <scp>Werner</scp> syndrome causes childhood disease onset likely resulting from negative genetic interaction |
|
|
|
|
|
|
|
|
|
| A novel <scp>c.952T>C</scp> mutation in <i>Notch3</i> gene in a patient with chronic non‐migraine‐like headache: Expanding the genotypic spectrum of <scp>CADASIL</scp>? |
|
|
|
|
|
|
|
|
|
| The clinical and biochemical hallmarks generally associated with <scp>GLUT1DS</scp> may be caused by defects in genes other than <scp><i>SLC2A1</i></scp> |
|
|
|
|
|
|
|
|
|
| <scp>CCDC82</scp> frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features |
|
|
|
|
|
|
|
|
|
| <scp>IQSEC2</scp>‐related encephalopathy in males due to missense variants in the pleckstrin homology domain |
|
|
|
|
|
|
|
|
|
| Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss‐of‐function <i>ASCC1</i> gene mutation in two Bulgarian Roma patients |
|
|
|
|
|
|
✓ |
|
Bulgarian Roma |
| Expanding genotypic and phenotypic spectrums of <scp><i>LTBP3</i></scp> variants in dental anomalies and short stature syndrome |
|
|
|
|
|
|
|
|
|
| <scp>El‐Hattab‐Alkuraya</scp> syndrome caused by biallelic <scp><i>WDR45B</i></scp> pathogenic variants: Further delineation of the phenotype and genotype |
|
|
|
|
|
|
|
|
|
| De novo heterozygous variants in <i>KIF5B</i> cause kyphomelic dysplasia |
|
|
|
|
|
|
|
|
|
| Pathogenic variant‐based preconception carrier screening in the <scp>Israeli Jewish</scp> population |
|
|
|
|
|
|
✓ |
✓ |
Israeli Jewish population; Jewish ethnicities; Arab, Druze and Bedouin populations; self-reported an |
| Issue Information |
|
|
|
|
|
|
|
|
|
| Featured Cover |
|
|
|
|
|
|
|
|
|
| Bi‐allelic <scp><i>SPATA22</i></scp> variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest |
|
|
|
|
|
|
|
|
|
| A null founder variant in <scp><i>NPNT</i></scp>, encoding nephronectin, causes autosomal recessive renal agenesis |
|
|
|
|
|
|
|
|
|
| A novel homozygous variant in <scp><i>COX5A</i></scp> causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature |
|
|
|
|
|
|
|
|
|
| A homozygous frame‐shift variant in <scp><i>PROSER1</i></scp> is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features |
|
|
|
|
|
|
|
|
|
| Phenotypic spectrum of <i><scp>BLM</scp>‐</i> and <scp><i>RMI1</i></scp>‐related Bloom syndrome |
|
|
|
|
|
|
|
|
|
| The diagnosis of the first‐documented intragenic <scp><i>KANSL1</i></scp> microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome |
|
|
|
|
|
|
|
|
|
| Neurofibromas in <scp><i>LZTR1</i></scp> schwannomatosis |
|
|
|
|
|
|
|
|
|
| <i>In Vitro</i> Fertilization assisted by IntraCytoplasmic Sperm Injection in a male patient with Bardet–Biedl syndrome |
|
|
|
|
|
|
|
|
|
| First evidence of <scp><i>SOX2</i></scp> mutations in Peters' anomaly: Lessons from molecular screening of 95 patients |
|
|
|
|
|
|
|
|
|
| Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis |
|
|
|
|
|
|
|
|
|
| Systemic inflammatory syndrome in children with <scp><i>FARSA</i></scp> deficiency |
|
|
|
|
|
|
|
|
|
| Issue Information |
|
|
|
|
|
|
|
|
|
| Kidney failure in <scp>Bardet</scp>–<scp>Biedl</scp> syndrome |
|
|
|
|
|
|
|
|
|
| Mitochondrial tRNA<sup>His</sup>mutation (m.12158A > G) associated with MELAS syndrome |
|
|
|
|
|
|
|
|
|
| Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype |
|
|
|
|
|
|
|
|
|
| Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities ‐ Renal Asian Genetics Network (DRAGoN) |
|
|
|
|
|
|
|
|
|
| <scp>CIBERER</scp>: Spanish national network for research on rare diseases: A highly productive collaborative initiative |
|
|
|
|
|
|
|
|
|
| De novo variants in <scp><i>AGO1</i></scp> recapitulate a heterogeneous neurodevelopmental disorder phenotype |
|
|
|
|
|
|
|
|
|
| Late‐onset hearing loss case associated with a heterozygous truncating variant of <scp><i>DIAPH1</i></scp> |
|
|
|
|
|
|
|
|
|
| An adult male with <scp><i>SHANK2</i></scp> variant with epilepsy and obsessive‐compulsive disorder: Expanding the shankopathy phenotypic spectrum |
|
|
|
|
|
|
|
|
|
| Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision‐making |
|
|
|
|
|
|
|
|
|
| Genetic risk of hyperuricemia in hypertensive patients associated with antihypertensive drug therapy: A longitudinal study |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| <scp>Bi‐allelic</scp> null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive |
|
|
|
|
|
|
|
|
|
| A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11 |
|
|
|
|
|
|
✓ |
✓ |
Chinese patient; Chinese population |
| Issue Information |
|
|
|
|
|
|
|
|
|
| Corrigendum |
|
|
|
|
|
|
|
|
|
| Di‐genic inheritance of germline <i>POLE</i> and <i>PMS2</i> pathogenic variants causes a unique condition associated with pediatric cancer predisposition |
|
|
|
|
|
|
|
|
|
| A splice site mutation in the <scp><i>TSEN2</i></scp> causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome |
|
|
|
|
|
|
|
|
|
| Pathogenic “germline” variants associated with myeloproliferative disorders in apparently normal individuals: Inherited or acquired genetic alterations? |
|
|
|
|
|
|
|
|
|
| Divergent variant patterns among 19 patients with<scp>Rubinstein‐Taybi</scp>syndrome uncovered by comprehensive genetic analysis including whole genome sequencing |
|
|
|
|
|
|
|
|
|
| The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele <scp><i>BRCA2</i> 6174delT</scp> |
|
|
|
|
|
|
✓ |
✓ |
Ashkenazi Jewish; non-Jewish |