| Intrahepatic Cholestasis of Pregnancy: A Single‐Centre Whole‐Exome Sequencing Study in a Maltese Cohort |
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Maltese population |
| A Novel NUP85 Variant Expanding the Phenotypic Spectrum of NUP85‐Associated Steroid‐Resistant Nephrotic Syndrome |
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| Progressive Cone‐Rod Synaptic Dysfunction in Dynamin‐1 (<scp><i>DNM1</i></scp>) Related Developmental and Epileptic Encephalopathy: A Distinct Retinal Phenotype in Human |
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| Genetic Study and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Disorders due to Novel Variants in Phosphatidylinositol Glycan Genes |
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| A Novel <scp>RHEB</scp> Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of <scp>mTORopathies</scp> |
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| A Novel <scp><i>UPF1</i></scp> Variant Associated With a Rare <scp><i>UPF1</i></scp>‐Related Neurodevelopmental Disorder |
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| Genome‐Wide Association Study Reveals Genetic Architecture of Common Epilepsies |
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| Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma |
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| Two Novel Protein‐Truncating Variants in <i>NLRP2</i> and Their Functional Impacts on the Subcortical Maternal Complex |
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| <scp>NEUROMYODredger</scp>: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries |
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| Rare Cause 5q <scp>SMA</scp>: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the <scp>SMN</scp> Locus |
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| Issue Information |
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| Digenic Inheritance of Monoallelic <i>MUTYH</i> and <i>POLE</i> Germline Variants in Adrenocortical Carcinoma: Implications for Tumorigenesis and Immunotherapy |
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| A Cryptic <scp><i>CBFB</i></scp> Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia |
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| Quantification of Lateralized Overgrowth and Genotype‐Driven Tissue Composition |
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| Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First‐Tier Approach |
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| Pathogenic Deep Intronic <scp><i>PCSK1</i></scp> Variant Causes Proprotein Convertase 1/3 Deficiency in a Family |
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| Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguin |
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consanguineous Egyptian families |
| Identification of Novel <scp>SCMC</scp> Gene Variants Associated With Early Embryonic Arrest |
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| Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of <scp>STAR</scp> Syndrome |
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| Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders |
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Turkish population |
| Exploring the Familial Phenotypic Variability Associated With <scp>TTN</scp> Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype–Phenotype Correlation and Consequences in Genetic Couns |
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| Balanced Translocation <scp>t(3;12)</scp> Disrupting <i>HMGA2</i> and <i>NAALADL2</i> Genes in Twins With Silver–Russell Syndrome and Intellectual Disability |
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| A Homozygous Variant in <scp><i>HSD17B1</i></scp> Identified in Women With Poor Ovarian Response |
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| Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome |
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| <scp>SNV</scp>/Indel and <scp>CNV</scp> Analysis in Trio‐<scp>WES</scp> for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost‐Effectiveness |
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| Unexpected High Prevalence of Focal Facial Dermal Dysplasia (<scp>FFDD</scp>) Type <scp>IV</scp> Is Linked to a Founder Effect in the Belgian Population |
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| Haplotype Phasing of Biallelic <scp><i>WNT10B</i></scp> Variants Using Long‐Read Sequencing in Split‐Hand/Foot Malformation Syndrome |
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| Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey |
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| Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants |
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| Loss of Function <i>SPTAN1</i> Variants Result in Ataxia and Intellectual Disability |
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| Issue Information |
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| Unusual Co‐Occurrence of Multiple Myeloma and <scp>AML</scp> in a Patient With Germline <i>CEBPA</i> Variant. Expanding the Spectrum of Hereditary Hematologic Malignancies |
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| Featured Cover |
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| A Novel Case of Biallelic <scp><i>MLH3</i></scp> Variants in a Patient With Rectal Cancer and Polyps |
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| Genetic Underpinnings of Oligoasthenoteratozoospermia |
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| Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in <scp><i>SENP7</i></scp> Gene Unveiled by Whole Exome Sequencing |
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consanguineous Egyptian family |
| A Unique Case of <scp><i>MBD5</i></scp> and <scp><i>CCM2</i></scp> Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus |
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| Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases (<scp>IRDs</scp>) in a Cohort of Eastern Iranian Patients |
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| Loss‐of‐Function of <scp>CLMP</scp> Is Associated With Congenital Short Bowel Syndrome and Impaired Intestinal Development |
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| Expanding the Phenotypic Spectrum of <scp>SPG7</scp> Rare Damaging Variants: Insights From a Hungarian Cohort |
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Hungarian |
| Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review |
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Asian patients |
| <i>CDK13</i>‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management |
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| Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (<scp>BMP2</scp>) Haploinsufficiency |
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| The Natural Course of Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome |
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| A Splice Site Variant in <i>SENP7</i> Results in a Severe Form of Arthrogryposis |
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| Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of <scp><i>CSTB</i></scp>‐Related Neurodevelopmental Disorders |
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| Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome |
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| Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis |
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| Unraveling the Genetic Landscape of Foot Arch Morphology: A Systematic Review of Single Nucleotide Polymorphisms |
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| Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies |
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