| A Variable Clinical Presentation of Hemoglobin City of Hope |
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Ashkenazi Jews (70.4%) |
| Identification of a Novel <scp><i>FLT4</i></scp> c.<scp>3028A</scp>>C Variant Associated With Milroy Disease |
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| Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing |
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| Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to <i>SRPK3</i> and <i>TTN</i> Variants in Two Siblings |
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| Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study |
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| Homozygous <scp>ASTN1</scp> Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical Presentation |
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| Expanding the Clinical and Mutational Spectrum of Biallelic <scp><i>POC1A</i></scp> Variants: Characterization of Four Patients and a Comprehensive Review of <scp>POC1A</scp>‐Related Phenotypes |
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| Unveiling New Clinical and Genetic Insights in Ultra‐Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort |
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| Mismatch Repair Proficient Colorectal Adenocarcinoma in Two Patients With Lynch Syndrome |
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| A Novel De Novo Missense Variant in Netrin‐1 (<i>NTN1</i>) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly |
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| Genotype–Phenotype Correlations in <i>SYNGAP1</i>‐Related Mental Retardation Type 5 |
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| Split Hand‐Foot Malformations—Unveiling Unique Molecular Diagnosis From a Brazilian Cohort |
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✓ |
✓ |
Brazilian |
| Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families |
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| Biallelic Variants in <scp><i>LRRC45</i></scp> Impair Ciliogenesis and Cause a Severe Neurological Disorder |
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| A Novel Homozygous Synonymous Variant in <scp><i>CCDC134</i></scp> as a Cause of Osteogenesis Imperfecta Type <scp>XXII</scp> |
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✓ |
✓ |
Chinese; Chinese population |
| Comprehensive Analysis of <scp><i>TEK</i></scp> Variants in Patients With Vascular Malformations |
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| <scp><i>WDFY3</i></scp> Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly |
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| Issue Information |
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| Unique Genetic Profiles in Hypertrophic Cardiomyopathy Patients From São Miguel Island (Azores, Portugal) |
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| Skipping of Exon 20 in <i>EP300</i>: A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations |
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| Mainstreaming Cancer Genomic Testing: A Scoping Review of the Acceptability, Efficacy, and Impact |
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| Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review |
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| The p.(<scp>Gly111Arg</scp>) <i>ABCC8</i> Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community |
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Indian Agarwal Community |
| Mobile Element Insertion in the <i>APOB</i> Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis |
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| Rare Causes and Differential Diagnosis in Patients With Silver‐Russell Syndrome |
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| Novel <scp><i>BRAT1</i></scp> Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion |
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| Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia |
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| Genetic, Clinical, and Biochemical Characterization of a Large Cohort of Palestinian Patients With Fanconi‐Bickel Syndrome |
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| <scp><i>BRCC3</i></scp>‐Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical <scp>RNA</scp> Sequencing |
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| <scp><i>AMOTL1</i></scp>‐Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, <scp>CFCHS</scp>): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities |
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| A Novel Compound Heterozygous Genotype of the <i>WDR73</i> Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other <scp>CNS</scp> Structural Abnormalities |
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| Identification of a Rare Branch Point Variant in the <i>SMS</i> Gene in a Large Family With a Severe Form of Snyder–Robinson Syndrome |
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| Genetic Analysis of Heterotaxy in a Consanguineous Cohort |
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| The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance |
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| Issue Information |
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| <scp><i>PERCC1</i></scp>‐Related Congenital Enteropathy |
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| Recognisable Neuroradiological Findings in Five Neurogenetic Disorders |
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| Identification of Two Novel Missense Variants in <i>BNC1</i> in Han Chinese Patients With Non‐syndromic Premature Ovarian Insufficiency |
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✓ |
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Han Chinese |
| Genetic Variants Supporting the Diagnosis of Primary Ciliary Dyskinesia in Japan |
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✓ |
✓ |
Japanese; general Japanese population; ethnic differences; global data |
| Biallelic <scp><i>PIGM</i></scp> Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events |
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| A Frameshift Variant in <i>ANKRD24</i> Implicates Its Role in Human Non‐Syndromic Hearing Loss |
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| Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism |
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| <scp>RNU4‐2</scp>‐Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt |
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| Utility of Optical Genome Mapping in Repeat Disorders |
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| A Novel <i>PTPRQ</i> c.3697del Variant Causes Autosomal Dominant Progressive Hearing Loss in Both Humans and Mice |
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✓ |
✓ |
Chinese Han |
| <scp>ME2</scp> Deficiency Is Associated With Recessive Neurodevelopmental Disorder |
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| <scp>PathVar</scp>: A Customisable <scp>NGS</scp> Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine |
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| Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in <i>TSEN54</i>, <i>MOCS2</i>, and <i>OPHN1</i> |
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✓ |
✓ |
Pashtun population; Pashtun community; ethnic groups |
| The p. <scp>S178L</scp> mutation in <i>Tbc1d24</i> disrupts endosome‐mediated synaptic vesicle trafficking of cochlear hair cells and leads to hearing impairment in mice |
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| Hidden Aberrant Transcripts in <scp><i>TTC37</i></scp> Cause Trichohepatoenteric Syndrome |
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| Chromosome 8p Syndromes Clinical Presentation and Management Guidelines |
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| A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: <i>SGSM3</i> |
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✓ |
✓ |
Ashkenazi Jews; different populations |
| A Novel Homozygous Missense <scp>ZP1</scp> Variant Result in Human Female Empty Follicle Syndrome |
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| Consolidating the Role of Mutated <i>ATP2B2</i> in Neurodevelopmental and Cerebellar Pathologies |
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| Issue Information |
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| Second Case of Gonadal Mosaicism and a Novel Nonsense <scp>NR2F1</scp> Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome |
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| Novel <i>KIF26A</i> variants associated with pediatric intestinal pseudo‐obstruction (<scp>PIPO</scp>) and brain developmental defects |
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| Review of susceptibility genes in developmental dysplasia of the hip: A comprehensive examination of candidate genes and pathways |
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| Research progress of the relationship between phosphoprotein phosphatases (<scp>PPPs</scp>) and neurodevelopmental disorders |
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| Genetics of anomalies of the kidney and urinary tract with congenital heart disease: A review |
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| Knowledge and perceptions about fragile X syndrome and fragile X‐premutation‐associated conditions among medical doctors in Nigeria |
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| Compound heterozygosity for two variants in <i>BMP5</i> in human skeletal dysostosis with atrioventricular septal defect |
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| Issue Information |
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| Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (<i>GSS</i>) |
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| Dissecting <scp><i>CASK</i></scp>: Novel splice site variant associated with male <scp>MICPCH</scp> phenotype |
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| Childhood glaucoma: Implications for genetic counselling |
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| Expanding the genetic landscape of Usher syndrome type <scp>IV</scp> caused by pathogenic <i>ARSG</i> variants |
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| Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the <scp>MYB</scp> Binding Protein 1a (<scp><i>MYBBP1A</i></scp>) gene |
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| Expanding the phenotypes of <i>ABL1</i> deficiency syndromes: When mutations in different isoforms Lead to different diseases |
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| Novel <i>PLEC</i> variants associated with infantile cholestasis |
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| Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in <i>PPP2R5D</i>‐related neurodevelopmental disorder |
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| <scp>SCYL2</scp>‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond? |
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| In memory of Ludwine Messiaen, Ph.D. (1956–2024) |
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| Active spread of β‐thalassemia beyond the thalassemia belt: A study on a Russian population |
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✓ |
✓ |
Caucasus region; resident subpopulation; ethnic groups; resident populations |
| Issue Information |
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| Featured Cover |
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| The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross‐sectional study |
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| Genetic landscape of hearing loss in prelingual deaf patients of eastern <scp>Iran</scp>: Insights from exome sequencing analysis |
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| Exploring the role of non‐canonical splice site variants in aberrant splicing associated with reproductive genetic disorders |
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| Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil |
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| Identification of copy‐number variants in patients with overgrowth disorders |
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✓ |
✓ |
ethnic group; Spanish |
| Epilepsy due to potential loss of <i>ATP6V1B2</i> function with mechanistic insight by a <i>Drosophila</i> Vha55 model |
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| Correction to “<scp>SAM</scp> domain variants of <scp>EPHB4</scp> associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology” |
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| Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory |
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✓ |
✓ |
Norwegian population; Norway; Norwegian |
| A de novo novel variant in the <i>MT‐TD</i> gene is associated with prominent extra‐neurologic manifestations |
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| Toward <scp>3D</scp> facial analysis for recognizing Mendelian causes of autism spectrum disorder |
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| The c.‐<scp>265G</scp>>A <i>GLA</i> gene promoter variant causes Fabry disease: The hidden culprit identified |
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| Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities |
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| Clinical and molecular characterization of limb‐girdle muscular dystrophy <scp>2G</scp>/<scp>R7</scp> in a large cohort of Brazilian patients |
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✓ |
✓ |
✓ |
Eastern European; Brazilian; Chinese; Bulgarian; Asian populations |
| Compound heterozygous variants in <scp><i>SLC45A1</i></scp> might cause syndromic intellectual disability by localization failure and activity attenuation in cells |
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| Genetics of 67 patients of suspected primary ciliary dyskinesia from India |
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| A rare form of <scp>LIM</scp> domain‐binding protein 3 (<scp><i>LDB3</i></scp>) mutation causes hypertrophic cardiomyopathy and myofibrillar myopathy type 4 |
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| Streamlined two‐step fragment analysis <scp>PCR</scp> and exome sequencing of <scp>RFC1</scp> for diagnostic testing of suspected <scp>CANVAS</scp> patients |
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| The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic <i>ANK3</i> variants |
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| Whole genome sequencing identifies a homozygous splicing variant in <i>TDRKH</i> segregating with non‐obstructive azoospermia in an Iranian family |
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✓ |
✓ |
Iranian; North African |
| Low‐intensity noise exposure takes an essential part in the mechanism of late‐onset hereditary hearing loss caused by Abcc1 mutation |
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| Issue Information |
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| <scp>HDR</scp> syndrome: Large cohort and systematic review |
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| <scp>SETBP1</scp> haploinsufficiency and related disorders clinical and neurobehavioral phenotype study |
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| Featuring <i>BRCA1</i> and <i>BRCA2</i> germline mutational landscape from <scp>Asturias</scp> (<scp>North Spain</scp>) |
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| Differences in manifestations of epilepsy and developmental delay in <scp>PURA</scp> syndrome and 5q31 microdeletions |
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| A homozygous <i>ARMC3</i> splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family |
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| Unraveling <i>GRIA1</i> neurodevelopmental disorders: Lessons learned from the p.(<scp>Ala636Thr</scp>) variant |
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| New kinase‐deficient <scp>PAK2</scp> variants associated with Knobloch syndrome type 2 |
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| <scp>EZH2</scp>‐associated tumor malignancy: A prominent target for cancer treatment |
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| Short stature and dysmorphic features in Asian Indian siblings with <scp><i>DAAM2</i></scp>‐associated steroid‐resistant nephrotic syndrome: Expansion of the phenotypic spectrum or a blended phenotype |
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✓ |
✓ |
Asian Indian |
| Re‐analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an <i>RNU4‐2</i> related neurodevelopmental disorder |
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| Non‐dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant <scp><i>DSP:</i>c.3793G</scp>>T in Slovenian patients |
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✓ |
✓ |
Slovenian ("Slovenian patients", "Slovenian probands", "Slovenian-specific") |
| Expanding the spectrum of phenotypes for <i>MPDZ</i>: Report of four unrelated families and review of the literature |
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| Non‐syndromic retinal dystrophy associated with biallelic variation of <scp><i>SUMF1</i></scp> and reduced leukocyte sulfatase activity |
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| Bi‐allelic variants in <scp>MYH3</scp> cause recessively‐inherited arthrogryposis |
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| A novel homozygous <i>FAM92A</i> gene (<i>CIBAR1</i>) variant further confirms its association with non‐syndromic postaxial polydactyly type <scp>A9</scp> (<scp>PAPA9</scp>) |
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| Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract |
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| <i>SERPINA11</i> related novel serpinopathy – A perinatal lethal disorder |
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| The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases |
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| B‐cell immune deficiency in twin sisters expands the phenotype of <scp>MOPDI</scp> |
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| Issue Information |
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| The significance of carrying <i>MEFV</i> variants in symptomatic and asymptomatic individuals |
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| Novel biallelic <i>PISD</i> missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology |
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| Biallelic <i>FANCA</i> variants detected in sisters with isolated premature ovarian insufficiency |
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| Copy number variants at 4q31.3 affecting the regulatory region of <scp><i>FBXW7</i></scp> associated with neurodevelopmental delay |
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| Clinical and genetic investigation of 14 families with various forms of short stature syndromes |
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✓ |
✓ |
Pakistani origin; Pakistani population |
| Functional studies in yeast confirm the pathogenicity of a new <i>GINS3</i><scp>Meier–Gorlin</scp> syndrome variant |
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| Inherited thrombocytopenia associated with a variant in the <scp>FLI1</scp> binding site in the 5′ <scp>UTR</scp> of <i>ANKRD26</i> |
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| Identification of seven variants in the col4a1 gene that alter <scp>RNA</scp> splicing by minigene assay |
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| Genetic profile of Brazilian patients with <scp>LAMA2</scp>‐related dystrophies |
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✓ |
✓ |
Latin American population; Brazilian patients |
| High prevalence of copy number variations in the Japanese participants with suspected <scp>MODY</scp> |
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✓ |
✓ |
Japanese |
| A fine‐scale genetic map of the Japanese population |
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| <i>FGF12</i> copy number variant associated with epileptic encephalopathy |
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| Outcomes of a universal germline screening program in a community urology practice |
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| Issue Information |
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| Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome |
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| Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines |
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✓ |
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FSHD European Trial Network |
| Heritability of cancers in Japanese population: Estimation from recent cohort data |
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✓ |
✓ |
✓ |
European descent; Japanese population; Nordic population; ethnicity |
| Syndromic craniosynostosis caused by a novel missense variant in <i>MAP4K4</i>: Expanding the genotype–phenotype relationship in <scp>RASopathies</scp> |
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✓ |
✓ |
Korean boy |
| Usmani‐Riazuddin syndrome can have a recognizable phenotype: Report of a novel <i>AP1G1</i> variant |
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| Pediatric acute promyelocytic leukemia and Fanconi anemia: Case report and literature review |
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| Severe manifestation of <scp>Rauch‐Azzarello</scp> syndrome associated with biallelic deletion of <scp><i>CTNND2</i></scp> |
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Syrian descent |
| Expanding the understanding of telomere biology disorder with reports from two families harboring variants in <i>ZCCHC8</i> and <i>TERC</i> |
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| Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, <scp>VI</scp>, and <scp>IX</scp> |
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| Beyond the phenotype: Exploring inherited retinal diseases with targeted next‐generation sequencing in a Turkish cohort |
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Turkish |
| Featured Cover |
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| Issue Information |
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| Simplified detection of genetic background admixture using artificial intelligence |
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| Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication |
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| <scp><i>Kinesin family member 12</i></scp>‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity |
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| Shifting the landscape: Dominant C‐terminal rare missense <scp><i>FOXL2</i></scp> variants in non‐syndromic primary ovarian failure etiology |
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| Novel copy number variations and phenotypes of infantile epileptic spasms syndrome |
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Chinese cohort |
| Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic–ischemic encephalopathy: A retrospective analysis |
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| Clinical feature, <i>GALC</i> variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years |
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other ethnic groups |
| De novo start‐loss variant in <scp><i>HIRA</i></scp> in patient with <scp>DiGeorge</scp>‐like syndrome |
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| <i>BRCA1‐associated protein 1</i>: Tumor predisposition syndrome and Kury‐Isidor syndrome, from genotype–phenotype correlation to clinical management |
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| Regulation of <scp>N<sup>6</sup></scp>‐methyladenosine modification in erythropoiesis and thalassemia |
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| Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated <i>RIMS2</i> phenotype and a retina‐enriched <i>RIMS2</i> isoform |
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| Identification of genetic causes in children with unexplained epilepsy based on trio‐whole exome sequencing |
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| Homozygous novel truncating variant of <i>CLPP</i> associated with severe Perrault syndrome |
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| Issue Information |
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| Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment |
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| The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population |
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| Reduced kinase function in two ultra‐rare <scp><i>TNNI3K</i></scp> variants in families with congenital junctional ectopic tachycardia |
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| Cerebral dural arteriovenous fistulas in patients with <scp><i>PTEN</i></scp>‐related hamartoma tumor syndrome |
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| Evidence for common mechanisms of pathology between <i>SHANK3</i> and other genes of <scp>Phelan‐McDermid</scp> syndrome |
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| ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism |
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| A founder variant expands the phenotype of <scp><i>WNT7B</i></scp>‐related <scp>PDAC</scp> syndrome |
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| Genome‐wide association study of cardiometabolic multimorbidity in the <scp>UK</scp> Biobank |
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European ancestry |
| Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4 |
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Chinese cohort |
| Allelic heterogeneity in a patient with postzygotic <scp><i>MTOR</i></scp>‐related hypomelanosis of Ito with neurodevelopmental abnormalities |
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| Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications |
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| Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias |
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| Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global <scp>DNA</scp> methylation profile |
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| Novel variant in <i>LRP6</i> associated with unusual and severe clinical presentation: Case report |
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| Severe isolated exudative vitreoretinopathy caused by biallelic <i>FZD4</i> variants |
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| Expanding the phenotype of <scp><i>PPP1R21</i></scp>‐related neurodevelopmental disorder |
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| Prevalence and phenotypes associated with <i>ALPK3</i> null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy |
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| Novel phenotype associated with homozygous likely pathogenic variant in the <scp>POP1</scp> gene |
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| Further evidence of involvement of <i>ITSN1</i> in autosomal dominant neurodevelopmental disorder |
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| Patient perspective in perceived comparative genetic mutation risk: An exploratory review |
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| A hemizygous loss‐of‐function variant in <scp><i>BCORL1</i></scp> is associated with male infertility and oligoasthenoteratozoospermia |
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| Assessing the impact of psychiatric genetic counseling on psychiatric hospitalizations |
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| The first case of a point pathogenic variant in the <i>RREB1</i> gene in Noonan‐like Rasopathy |
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| Feasibility of whole‐exome sequencing in fine‐needle aspiration specimens of papillary thyroid microcarcinoma for the identification of novel gene mutations |
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| Identification of a founder variant <i>AAGAB</i> c.<scp>370C</scp>>T, p.<scp>Arg124Ter</scp> in patients with punctate palmoplantar keratoderma in Southern Denmark |
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| Contribution of genetic variants in the development of familial premature coronary artery disease in a cohort of cardiac patients |
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| Issue Information |
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| Further description of two individuals with de novo <scp>p.(Glu127Lys)</scp> missense variant in the <scp><i>ASCL1</i></scp> gene |
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| Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures |
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| Development of disease‐specific growth charts for Korean children with <scp>Beckwith–Wiedemann</scp> syndrome |
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✓ |
Korean |
| Genotype–phenotype correlation in <scp>Prader‐Willi</scp> syndrome: A large‐sample analysis in China |
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| Clinical phenotypic spectrum of <scp><i>CTNNB1</i></scp> neurodevelopmental disorder |
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| Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia |
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| Functional characterization of inactivating <i>ABCC8</i> variants causing congenital hyperinsulinism |
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| Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum |
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| The <i>FGF14</i><scp>GAA</scp> repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the <scp>SCA27B</scp> phenotype across populations |
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✓ |
✓ |
Greek; Greek population; previously studied populations |
| The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children |
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| Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in <i>COL4A3/COL4A4</i>? |
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| Further delineation of the phenotypic and metabolomic profile of <i>ALDH1L2</i>‐related neurodevelopmental disorder |
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| Issue Information |
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| <scp><i>CCDC88C</i></scp> variants are associated with focal epilepsy and genotype–phenotype correlation |
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| Therapeutic strategies for aberrant splicing in cancer and genetic disorders |
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| The Phenotypic and Genotypic Spectrum of <scp><i>BRPF1</i></scp>‐Related Disorder: 29 New Patients and Literature Review |
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| Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease |
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✓ |
✓ |
Turkish cohort |
| The Value of <scp>ROH</scp> Metrics for Predicting Morbidity: Insights From a Large Cohort Analysis of Chromosomal Microarray |
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✓ |
✓ |
ancestral origins; various origins; consanguineous populations |
| Biallelic Loss of Function Variant in <scp><i>SEC31A</i></scp> Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects |
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| Identification of the Third Patient With <scp>PAICS</scp> Deficiency Harbouring the p.(<scp>Lys53Arg</scp>) Recurrent Variant, Extending the Phenotype Diversity |
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| Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome |
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✓ |
✓ |
ethnicity |
| Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an <scp><i>AIMP1</i></scp> Missense Variant |
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| Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice |
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| Risk Factors Associated With Leber Hereditary Optic Neuropathy due to Rare Mutations in Mitochondrial <scp>DNA</scp>‐Encoded Respiratory Complex I Subunits |
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| Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and <i>In Silico</i> Analysis |
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