| Genetic Insights Into Epidermolysis Bullosa: Identification of Novel Variants in Tunisian Patients |
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North African; Northern Africa; Tunisian; Tunisia |
| A Homozygous <scp><i>MYH1</i></scp> Variant Underlies Autosomal Recessive Isolated Recurrent Rhabdomyolysis |
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| Cerebrospinal Fluid and Serum Neuron‐Specific Enolase in Niemann‐Pick Disease Type <scp>C1</scp> |
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| <scp><i>COL4A2</i></scp>‐Related Disorder Presenting in Adulthood With Rhabdomyolysis |
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| Transcriptomic and Metabolomic Analyses in Monozygotic and Dizygotic Twins |
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| Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022) |
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| In This Issue |
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| Long‐Read Sequencing Increases Diagnostic Yield for Rare Disease |
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| Table of Contents, Volume 197A, Number 1, January 2025 |
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| Repeat Expansion Disorders Likely Underdiagnosed |
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| Proband‐Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights |
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| Gonadal Mosaicism for an <i>ASH1L</i> Intragenic Deletion Makes a Bridge Between <scp>MRD52</scp> and 1q22 Microdeletion |
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| A Homozygous Nonsense Variant in the <scp><i>BICC1</i></scp> Gene Associated With Fetal Cystic Kidney Disease and Lower Limb Post‐Axial Polydactyly |
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| Vitamin <scp>B5</scp> Monotherapy Improves Symptoms in a 7‐Year‐Old Girl With <scp>TANGO2</scp> Deficiency Disorder |
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Chinese |
| The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series |
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| <scp>CHIME</scp> Syndrome in a Child With Homozygous <scp><i>PIGL</i> p.Leu167Pro</scp> Variant |
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| Does It Run in Your Family? Inherited Truncating <scp><i>PSMD12</i></scp> Variants Broaden the Phenotypic Spectrum of Stankiewicz‐Isidor Syndrome |
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| Immune Dysregulation in a Child With <i>SOD1</i>‐Related Neurological Disease |
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| Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study |
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| Exploring the Clinical Spectrum of <scp><i>HUWE1</i></scp>‐Related Neurodevelopmental Disorder: Five New Patients and Literature Review |
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| Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient With Aplastic Anemia |
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| Alu‐Mediated Deletion of <scp><i>FANCA</i></scp> in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect |
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Turkish population; Turkish descent |
| Subacute Neuropathy Post‐Liver Transplantation in Zellweger Spectrum Disorder: A Case Report |
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| <scp>SURF1</scp> Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype |
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| Dr. Peter Emil Becker and the Third Reich: Correspondence |
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racial biology and eugenics |
| From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a <scp><i>CANT1</i></scp> Variant Across Five Unrelated Families |
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| Implementing a Quality Improvement Initiative to Screen for Dementia in a Down Syndrome Specialty Clinic |
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| 2q13 Distal Microdeletion: Considering Evidence for an Emerging Syndrome Versus Susceptibility Locus: Twenty‐Five New Cases and Review of the Literature |
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| Health Care Transition Programs for Adolescents and Young Adults With Hereditary Cancer Predisposition: A Scoping Review |
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| An Extended Phenotype of <i>PPP1R13L</i> Cardiocutaneous Syndrome |
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| <i>De Novo</i> Balanced Translocations Disrupting the <scp><i>FBN1</i></scp> Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling |
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| Quality of Life in Short Stature Children With Skeletal Dysplasia: A Cross Sectional Study Using the Quality of Life in Short Stature Youth Questionnaire |
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| Chronic Catatonia in an Individual With a De Novo Missense <i>SHANK1</i> Variant |
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| From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in <i>RHOA</i> on Ectodermal Dysplasia With Multi‐System Involvement |
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| Long‐Term Health Outcomes of Individuals With Pseudodeficiency Alleles in <scp><i>IDUA</i></scp> May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I |
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| A Novel De Novo Splice Acceptor Variant in <i>BICD2</i> Is Associated With Spinal Muscular Atrophy |
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| The Glu86 Residue in <scp>TBX4</scp> Proves Critical for Human Lung Development |
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| Insights From a Novel Splicing Variant and Recurrent Arginine Variants in the <scp><i>CHD3</i></scp> Gene Causing Snijders Blok–Campeau Syndrome |
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| Characterizing and Evaluating the Structures of Combined Pediatrics and Medical Genetics and Genomics Residency Programs |
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| Optical Genome Mapping (<scp>OGM</scp>) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐<scp>McDermid</scp> Syndrome |
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| Coffin‐Siris Syndrome and Unusual Angiogenic Profiles in Pregnancy: A Case Study Emphasizing Caution in Interpreting a Very Low <scp>sFlt</scp>‐1/<scp>PlGF</scp> Ratio |
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| A second <scp>RUBCN</scp> variant associated with epileptic encephalopathy and neurodevelopmental delay |
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| Expanding the Genetic and Phenotypic Spectrum of Mowat‐Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion |
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| Hailey‐Hailey Disease Caused by a Novel Deep Intronic Variant in <scp><i>ATP2C1</i></scp> |
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| Structural Variants in <scp><i>COL1A1</i></scp> and <scp><i>COL1A2</i></scp> in Osteogenesis Imperfecta |
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Swedish |
| Ring Chromosome 17 Syndrome—A Case Report and Discussion of Diagnostic Methods |
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| Ethics of DNA Testing to Determine Nationality |
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| Table of Contents, Volume 194A, Number 12, December 2024 |
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| Expanding the Molecular and Clinical Phenotype of Patients With <i>De Novo</i> Variants in <i>KIF5C</i>: A Six Patient Case Series |
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| Gene Therapy Delivery Vector Crosses the Blood‐Brain Barrier |
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| Cover Image, Volume 194A, Number 12, December 2024 |
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| In This Issue |
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| Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel <i>SMN1</i> Deletions |
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Chinese |
| Identification and Characterization of Novel <scp>FSHR</scp> Copy Number Variations Causing Premature Ovarian Insufficiency |
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| <i>CTNND1</i>‐Related Disorder: New Insight on Prenatal Phenotype |
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| Cyclic Vomiting Syndrome in Patients Affected by Jansen–de Vries Syndrome: Results From an International Survey |
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| Successful Pregnancy Outcome With Preconception Care in a Symptomatic Carrier of Duchenne Muscular Dystrophy: Case Report and Literature Review |
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| New Insights Into the Spectrum of <scp>RASopathies</scp>: Clinical and Genetic Data in a Cohort of 121 Spanish Patients |
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| <i>ARSA</i> Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry |
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Ashkenazi Jewish; phrases: 'Ashkenazi Jewish ancestry', 'Ashkenazi Jewish descent', 'Ashkenazi Jewis |
| Recurrent Increased Nuchal Translucency Led to the Identification of Novel <i>NUP107</i> Variants |
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| Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population |
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Indian Population |
| Further Evidence for a Possible Role for <i>ZFHX4</i> in Human Ocular Development and Disease |
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| <scp><i>SOS1</i></scp>‐Related Noonan Syndrome and Sudden Cardiac Arrest in the Absence of Cardiomyopathy—An Arrhythmia Phenotype? |
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| Expanding the Phenotype of Extremely Early Onset Juvenile Huntington's Disease: A Case Report and Review of Previously Published Cases |
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| Recurrent Xp22.31‐Yq11 Unbalanced Translocations: Molecular Diagnosis and Clinical Implications in Three Families |
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| A Prevalent <scp><i>TMEM260</i></scp> Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus |
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Japanese population; Japanese patients; Japanese patients with TA |
| Second Report of the <scp>p.Leu874Pro</scp> Missense Variant in <scp><i>EPHB4</i></scp> in a Family With Capillary Malformation‐Arteriovenous Malformation Syndrome (<scp>CM</scp>‐<scp>AVM</scp>) Syndr |
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| Clinical Features of a Japanese Girl With Radio‐Tartaglia Syndrome due to a <i>SPEN</i> Truncating Variant |
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Japanese |
| Expanding the Phenotype of <scp><i>NRROS</i></scp>‐Related <scp>SENEBAC</scp> Syndrome |
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| Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a <scp><i>LARP7</i></scp> Pathogenic Variant Responsible for Alazami Syndrome: A Case Report |
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| <i>KIF11</i> Variants Associated With Novel Renal System Involvement—Two Cases That Expand the Phenotypic Spectrum of Microcephaly With or Without Chorioretinopathy, Lymphedema, or Impaired Intellectu |
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| Cerebellar Hypoplasia and Treatment Course of a Two‐Month‐Old Infant With <scp><i>KCNQ2</i></scp> Epileptic Encephalopathy Due to a De Novo Variant and Review of the Literature |
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| <scp>KBG</scp> Syndrome in 16 Indian Individuals |
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Indian |
| An Unusual Presentation of Leber Hereditary Optic Neuropathy‐Plus Case Caused by a Novel <i>DNAJC30</i> Variant |
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| Genetic Factors Linked to Early Clinical Trial Termination |
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| Potential Therapy Corrects Calcium Signaling in Timothy Syndrome |
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| In This Issue |
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| Table of Contents, Volume 194A, Number 11, November 2024 |
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| Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion |
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| Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network |
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Hispanic, Black non‐Hispanic, White non‐Hispanic, Asian non‐Hispanic, historically marginalized ethn |
| Managing <scp><i>CDH1</i></scp> Cancer Risks in a Child: Complex Decision Making in a Family With Hereditary Diffuse Gastric Cancer |
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| A Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature |
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| Bullous Lung Disease in Turner Syndrome: An Underrecognized Comorbidity? |
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| Non‐Hotspot <i>PIK3CA</i> Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations |
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| Neurodevelopment in Young Children With Sex Chromosome Trisomies Diagnosed Before Birth: A Cluster Analysis Study |
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| Evidence That Long‐Term Treatment Prevents Tissue Oxidative Damage in Patients With Inherited Disorders of the Propionate Pathway |
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| Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency |
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| Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia |
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| Assessment of Adaptive Functioning and the Impact of Seizures in <scp>KBG</scp> Syndrome |
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| Examining Roles, Challenges, and Opportunities Within the Metabolic Genetics Workforce |
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| Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network |
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| Bi‐Allelic Splicing Variant, c.153‐<scp>2A</scp> > C in <scp><i>TOMM7</i></scp> Is Associated With Leigh Syndrome |
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| Severe Phenotype With <scp>RECQL4</scp> Syndrome: A Report of Two Cases |
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| Case Report of Friedreich's Ataxia and <scp><i>ALG1</i></scp>‐Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia |
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| Evaluating the Influence of Social Determinants of Health on Blood Phenylalanine Levels in Phenylketonuria Patients |
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| <scp><i>SF3B2</i></scp> Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia |
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| Associated Anomalies in Radial Ray Deficiency |
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| Hospital Visits Associated With Oral Infections in Patients With Neurofibromatosis Type 1: A Register‐Based Analysis |
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| Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype |
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Indian |
| Seven Novel Variants of Weiss‐Kruszka Syndrome and Phenotype Expansion |
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| Assessing Postnatal Mortality in Smith–Lemli–Opitz Syndrome |
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| First Trimester Fetal Clubfoot: A Novel Presentation of Severe Osteogenesis Imperfecta |
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| Germline <scp><i>RTEL1</i></scp> Variants in Telomere Biology Disorders |
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| X‐Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel <scp><i>KIF4A</i></scp> Variant |
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| Diagnostic Accuracy of a Custom Large Language Model on Rare Pediatric Disease Case Reports |
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| Whole‐Genome Sequencing Can Improve Care in Pediatric Cancer |
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| A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel <i>EFEMP1</i> Pathogenic Variant |
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| Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome |
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| In This Issue |
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| Cover Image, Volume 194A, Number 10, October 2024 |
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| Table of Contents, Volume 194A, Number 10, October 2024 |
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| Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the <scp><i>P2RX2</i></scp> Gene |
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| Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals |
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| Let Us Care for the Rare |
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| Aortic Root Dilation and Genotype Associations in Phelan‐<scp>McDermid</scp> Syndrome |
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| Loss‐of‐Function Variant in <scp><i>PPP1R12A</i></scp>‐Related Urogenital and/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal |
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Mexican |
| A Comparison of Clinical and Radiological Presentations of Sporadic and Tuberous Sclerosis Complex‐Associated Lymphangioleiomyomatosis |
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| Investigating <scp><i>TNNC1</i></scp> gene inheritance and clinical outcomes through a comprehensive familial study |
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| <i>WDR44</i> Loss‐of‐Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype |
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| Two novel compound heterozygous <scp><i>HOXB1</i></scp> variants in congenital facial palsy: A case report and a brief review of the literature |
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| Expanding <scp>MNS1</scp> Heterotaxy Phenotype |
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| Genetic Contributions to Lower Urinary Tract Dysfunction |
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| Bridging the Diagnostic Gap for Hypermobile Ehlers‐Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potentia |
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| Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the <scp><i>CEP83</i></scp> Gene |
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| <i>MED12</i> Loss‐of‐Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability |
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| <scp><i>PRKAG2</i></scp>‐Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review |
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| Intrafamilial Phenotypic Variability in <scp>SYNE1</scp>‐Related Disorder |
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| Adherence to adult clinical practice guidelines for Down syndrome |
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| Deletions in the <i>CDKL5</i> 5′ untranslated region lead to CDKL5 deficiency disorder |
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| Chromosomal translocation resolves a diagnostic odyssey for familial <scp>Ruvalcaba</scp> syndrome |
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| Recessive loss‐of‐function variants in <scp><i>DPH1</i></scp> identified as the molecular cause in a sibling pair previously diagnosed with Fine–Lubinsky syndrome |
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| Diverse clinical presentation of <i>SPTBN1</i> variants: Complex versus primary attention‐deficit/hyperactivity disorder |
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| Aberrant behavior checklist in youth with Prader–Willi syndrome: Preliminary study of cross‐sectional and longitudinal behavior characterization |
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| Further evidence for an attenuated phenotype of in‐frame <i>DMD</i> deletions affecting the central rod domain of dystrophin around exon 48 |
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| Phenotypic spectrum and tumor risk in Simpson‐Golabi‐Behmel syndrome: Case series and comprehensive literature review |
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| Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in <i>DNA Methyltransferase 3 Alpha</i> |
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African American |
| Recurrent p.<scp>H119Y</scp> variant in <scp><i>MAP2K1</i></scp> expands the phenotypic spectrum of <scp><i>MAP2K1</i></scp>‐related RASopathy |
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| <scp><i>CCDC47</i></scp> gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from <scp>Saudi Arabia</scp> |
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Saudi origin; from Saudi Arabia |
| Novel heterozygous <scp><i>OPA3</i></scp> variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population va |
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| Comprehensive exploration of <scp>FCHO1</scp> mutations: <scp>Clinical</scp> manifestations and implications across disorders |
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| Double somatic mosaicism in Marfan syndrome |
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| <scp><i>CNOT1</i></scp> p.<scp>Arg535Cys</scp> variant in holoprosencephaly with late onset diabetes mellitus |
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| Longitudinal echocardiography in pediatric patients with hypermobile Ehlers‐Danlos syndrome |
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| Atypical presentation of <scp>ACCES</scp> syndrome resembling dominant Spondyloepiphyseal dysplasia tarda |
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| <scp>Regions of Homozygocity</scp> size patterns among diverse ethnic groups in Israel: Toward tailored diagnostic reporting thresholds |
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| Heterozygous loss of function variants in <scp><i>IFT140</i></scp> are associated with polycystic kidney disease |
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| Prevalence rates for ectodermal dysplasia syndromes |
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| Improving genetic testing utilization in a tertiary care neonatal intensive care unit through quality improvement |
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| Correction to “Uniparental disomy of multiple chromosomes in two cases with a complex phenotype” |
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| In This Issue |
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| Accessible Molecular Testing Needed in Low Resource Settings |
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| Table of Contents, Volume 194A, Number 9, September 2024 |
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| Noncoding Gene Identified as Relatively Common Cause of Intellectual Disability |
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| Missense variant in <scp><i>PIGM</i></scp> associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesi |
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| Atypical noncontiguous <i>TSC2/PKD1</i> gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome |
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| Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1 |
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| A novel <i>de novo</i> synonymous variant in <scp><i>GREB1L</i></scp> impacts the <scp>mRNA</scp> splicing associated with aplasia of the urogenital system |
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| Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort |
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| Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers |
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✓ |
✓ |
Native American |
| Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel <scp><i>VPS13D</i></scp> variants in <scp>Chinese</scp> |
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| Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet |
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| Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities |
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| Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion |
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| Novel causative variants in Legius syndrome: <i>SPRED1</i> Genotype spectrum expansion |
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| Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes |
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| A novel <i>ABCC9</i> variant in a <scp>Greek</scp> family with <scp>Cantu</scp> syndrome affecting multiple generations highlights the functional role of the <scp>SUR2B NBD1</scp> |
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Greek |
| Subtle phenotypes of Mowat–Wilson syndrome in a patient with a novel <scp><i>ZEB2</i></scp> C‐<scp>ZF</scp> domain variant |
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| Optical genome mapping with genome sequencing identifies subtelomeric <scp>Xq28</scp> deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder |
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| Ophthalmic manifestations of <scp><i>NAA10</i></scp>‐related and <scp><i>NAA15</i></scp>‐related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors |
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| Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,<scp>XXX</scp>): Results from the <scp>InsighTS</scp> Registry |
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| Expanded phenotypic spectrum of <scp>UDP</scp>‐glucose‐6‐dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy |
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| Expanding the clinical phenotype and variant spectrum associated with <scp><i>RFX7</i></scp> |
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Afro‐Caribbean |
| Expansion of the phenotypic spectrum of <i>KARS1</i>‐related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation |
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| Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature |
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| Unveiling hidden genetic complexity: Coexistence of <scp><i>HGSNAT</i></scp> and <scp><i>EYS</i></scp> variants in a patient with retinal dystrophy |
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| Are <i>SCN2A</i>‐related BFNISs also responsible for seizures in adulthood? A case report opens new scenarios |
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| <i>APOE4</i> Homozygotes Represent a Distinct Genetic Subtype of Alzheimer's Disease |
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| In This Issue |
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| <i>EMILIN1</i> gene variant associated with polyneuropathy, language impairment, and motor dysfunction |
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| Rule Expansion Further Regulates Laboratory Developed Tests |
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| Table of Contents, Volume 194A, Number 8, August 2024 |
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| Erratum to “Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases” |
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| Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study |
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| Molecular autopsy in Chinese sudden cardiac death in the young |
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| First copy number variant <i>in trans</i> with single nucleotide variant in <i>CCN6</i> causing progressive pseudorheumatoid dysplasia revealed by genome sequencing and deep phenotyping in monozygotic |
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| Medical students' reproductive health perspectives: Pre‐ and post‐<i>Roe v Wade</i> reversal |
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| <scp><i>COL4A1</i></scp>‐related disorder as a mimic of congenital <scp>TORCHES</scp> infection—Expanding the clinical, neuroimaging and genotype spectrum |
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| A unique case of hyperammonemia due to <scp>CA5A</scp> deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion |
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| Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals |
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Turkish population |
| Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic <scp><i>CSF1R</i></scp> variant: A report of three siblings |
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| Another face of <i>RASA1</i>: Report of familial germline variant in <i>RASA1</i> with dysmorphic features |
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| Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to <scp><i>FOXP1</i></scp> likely gene disruptive variants |
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| <scp><i>ACOX1</i></scp> gain‐of‐function variation in a 10‐years‐old patient responsive to immunomodulating therapy |
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| Genome sequencing identifies biallelic variants in <i>SCLT1</i> in a patient with syndromic nephronophthisis: Reflections on the <i>SCLT1</i>‐related ciliopathy spectrum |
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| Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries |
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| Sleep correlates of behavior functioning in Cornelia de Lange syndrome |
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| The motivations and methods behind sharing a pediatric <scp>Prader–Willi</scp> syndrome diagnosis |
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| Reclassification of an <i>FBN1</i> variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and diseas |
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| A novel missense variant in <i>HIKESHI</i>: Clinical phenotype, in vitro functional testing, and potential for gene therapy |
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| Two siblings with acute necrotizing encephalopathy associated with variants of <scp><i>LARS1</i></scp> |
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| Long‐term survival of an infant with complete tetraploidy: A case report |
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| Reanalysis of <scp>RNA</scp> sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy |
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| <scp><i>GPC4</i></scp> truncating variant associated with Keipert syndrome and lacrimal punctal agenesis |
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| The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicat |
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| Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing |
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| Expanding the phenotype of <scp>Harel‐Yoon</scp> syndrome: A case report suggesting a genotype/phenotype correlation |
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| Impact of definitive surgery for esophageal atresia on long‐term outcomes in patients with trisomy 18 |
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| New insights into the landscape of <i>ALPL</i> gene variants in patients with hypophosphatasia from the Global <scp>HPP</scp> Registry |
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| Further defining the molecular spectrum and long‐term follow‐up of 17 patients with Dyggve–Melchior–Clausen and Smith–<scp>McCort</scp> dysplasia type 2 |
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| Germline <scp><i>PTCH1</i></scp>: <scp>c.361_362insAlu</scp> alteration identified by comprehensive exome and <scp>RNA</scp> sequencing in a patient with <scp>Gorlin</scp> syndrome |
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| Pathogenic <scp><i>FLNA</i></scp> variants affecting the hinge region of filamin A are associated with male survival |
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| A founder deletion in <scp><i>ECM1</i></scp> of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye |
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| A novel homozygous pathogenic missense variant in <scp><i>COX6B1</i></scp>: Further delineation of the phenotype |
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| Exploring the Low Uptake of Gene Therapy in Hemophilia |
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| Cover Image, Volume 194A, Number 7, July 2024 |
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| In This Issue |
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| <i>TEK</i> gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a <scp>Mexican</scp> cohort of 10 unrelated families |
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✓ |
✓ |
Mexican |
| Noonan syndrome and type 1 Chiari malformation: Possible association |
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| Table of Contents, Volume 194A, Number 7, July 2024 |
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| New Gene Therapy Changes Treatment Landscape for Metachromatic Leukodystrophy |
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| Relationship of thyroid function with genetic subtypes and treatment with growth hormone in <scp>Prader–Willi</scp> syndrome |
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| <scp>NANS</scp>‐<scp>CDG</scp>: Expanding clinical insights with a novel patient with novel variants |
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✓ |
✓ |
Korean |
| Expanded phenotype and cancer risk in patients with <scp>Beckwith–Wiedemann</scp> spectrum caused by <scp><i>CDKN1C</i></scp> variants |
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| Siblings with vitamin D‐dependent rickets type <scp>1A</scp>: Importance of genetic testing and a review of genotype–phenotype correlations |
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| Multicenter appraisal of comorbid <scp>TANGO2</scp> deficiency disorder in patients with 22q11.2 deletion syndrome |
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| Biallelic loss‐of‐function variants of <i>EZH1</i> cause a novel developmental disorder with central precocious puberty |
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| Hemiarhinia caused by a missense variation in <scp><i>SMCHD1</i></scp>: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome |
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| A milder form of NSRP1‐associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signal |
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| Expansion of the prenatal phenotype of <scp>Baraitser–Winter</scp> syndrome: Presentation of two cases of multiple congenital anomaly syndrome |
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| Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in <scp>OSCS</scp> |
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| <scp><i>LZTFL1</i></scp>, a rare cause of Bardet–Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations? |
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| <scp><i>CASK</i></scp> pathogenic variant which expands the clinical spectrum for <scp>MICPCH</scp> syndrome in an adult patient |
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| Exploring the diverse clinical and variant spectrum of <scp>CEP78</scp>‐associated syndrome: Novel pathogenic variants identified in a case series |
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| Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) |
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| Rett syndrome diagnostic odyssey: Limitations of <scp>NextGen</scp> sequencing |
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| Classification of isolated versus multiple birth defects: <scp>An</scp> automated process for population‐based registries |
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| A rare case of uncharacterized autoinflammatory disease: Patient carrying variations in <i>NLRP3</i> and <i>TNFRSF1A</i> genes |
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| Long‐term clinical observation of patients with heterozygous <scp><i>KIF1A</i></scp> variants |
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| <scp>Dandy–Walker</scp> malformation in an individual with <i>ABL1</i> variant |
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| Large regions of homozygosity in prenatal diagnosis |
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| Large‐ and medium‐sized arterial aneurysms in two patients with <scp><i>SMAD4</i></scp>‐related juvenile polyposis syndrome |
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| Neuropsychological functioning of adults with <scp><i>PTEN</i></scp> hamartoma tumor syndrome |
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| Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention |
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| Clinical and molecular characteristics of hemophilia <scp>A</scp> affected individuals and carriers: A 24 years experience from three centers |
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| Adults with paternal <scp>UPD14</scp> causing <scp>Kagami–Ogata</scp> syndrome: Case report and review of the literature |
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| Noonan syndrome‐like phenotype associated with an <i>ERF</i> frameshift variant |
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| Trends in the survival of patients with trisomy 13 from 1995 to 2021: A population study in Japan |
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| Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease |
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| Aminotransferase trends in propionic acidemia |
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| Next‐generation phenotyping in Nigerian children with Cornelia de Lange syndrome |
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| Expanded prenatal phenotype of ALG12‐associated congenital disorder of glycosylation including bilateral multicystic kidneys |
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| Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date |
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| Patient with a heterozygous pathogenic variant in <scp><i>CSNK2A1</i></scp> gene: A new case to update the <scp>Okur–Chung</scp> neurodevelopmental syndrome |
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| <i>ITPR1</i>: The missing gene in miosis–ataxia syndrome? |
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| Neurodevelopmental disorder associated with gene <i>ARF3</i>: A case report |
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| Massive pericardial effusion in an infant with <scp>Aymé–Gripp</scp> syndrome: A case report and review of the literature |
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| Exploring metabolic alterations in <scp>PYCR2</scp> deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10 |
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| Primary amenorrhea in myotonic dystrophy type 1: Initial presentation versus incidental finding on whole genome sequencing |
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| <scp><i>SMAD4</i></scp> mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis |
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| X‐linked genetic associations in sporadic thoracic aortic dissection |
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✓ |
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European descent |
| Decoding and Modeling the Human Immune System |
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| In This Issue |
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| Katherine M. Hyland, PhD |
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| Table of Contents, Volume 194A, Number 6, June 2024 |
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| Expansion of the core features of <scp>VACTERL</scp> association to include genital anomalies |
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| Cover Image, Volume 194A, Number 6, June 2024 |
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| The interplay of psychosis and non‐compliance with fatal outcome in an adult with <scp>MSUD</scp> |
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| A novel <scp><i>AP1S2</i></scp> variant causing leaky splicing in X‐linked intellectual disability: Further delineation and intrafamilial variability |
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✓ |
✓ |
Thai family |
| Different fetal effects on fingers from exposure to phenytoin, phenobarbital, and carbamazepine |
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| A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the <i>ZNF142</i> gene |
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| Mitochondrial phosphate‐carrier deficiency mimicking infantile‐onset Pompe disease |
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| Qualitative and quantitative analysis of <i>MED12</i> c.887G>A causing both missense and splicing variants in X‐linked Ohdo syndrome |
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| Identification of a de novo <i>PUF60</i> variant associated with craniofacial microsomia |
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| Phenotypic consequences of <i>GBA1</i> pathological variant <scp>R463C</scp> (p.<scp>R502C</scp>) |
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| A novel <scp><i>GRK2</i></scp> variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia |
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| Clinical case report of intractable paroxysmal sympathetic hyperactivity in <scp>TANGO2</scp> deficiency disorder |
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| Further characterization of <scp>ARSK</scp>‐related mucopolysaccharidosis type 10 |
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| Immunological and hematological findings as major features in a patient with a new germline pathogenic <scp><i>CBL</i></scp> variant |
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| Parents of children with Down syndrome reflect on their postnatal diagnoses, 2003–2022 |
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| Similarity of aortic events between siblings with heritable thoracic aortic diseases: Clinical analysis focusing on identical twins and <scp>same‐sex</scp> siblings |
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| Laryngeal clefts in Prader–Willi syndrome: Feeding difficulties and aspiration not always caused by hypotonia |
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| Novel <i>Alu</i> insertion in the <scp><i>ZEB2</i></scp> gene causing <scp>Mowat‐Wilson</scp> syndrome |
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| “Why did I choose genetics?”: A survey of current and recent medical genetics and genomics residents provides insight into recruitment efforts |
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| Ocular manifestations of <scp>CHARGE</scp> syndrome in a pediatric cohort with genotype/phenotype analysis |
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| Alphamissense Predictive of Pathogenic Protein Variants |
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| In Memoriam: Ishwar Chander Verma, MD (1936‐2024) |
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| Table of Contents, Volume 194A, Number 5, May 2024 |
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| In This Issue |
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| Cover Image, Volume 194A, Number 5, May 2024 |
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| Identification of a novel phenotype of external ear deformity related to <scp>Coffin–Siris</scp> syndrome‐9 and literature review |
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| A novel 3q interstitial deletion including <i>GATA2</i> and <i>ZNF148</i>: A case report |
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| Neurodevelopmental disorder in a patient with <scp><i>HMBS</i></scp> and <scp><i>SCN3A</i></scp> variants—A possibly blended phenotype further delineating autosomal recessive <scp><i>HMBS</i></scp> re |
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| <scp>ECEL1</scp> related distal arthrogryposis <scp>5D</scp> in an Indian cohort—Report of recognizable musculoskeletal phenotype and a possible founder variant |
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| Homozygosity for <scp>disease‐causing</scp> variants in <scp><i>AMT</i></scp> and <scp><i>GLDC</i></scp> in a patient with severe nonketotic hyperglycinemia |
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| Truncating variants of the sterol recognition region of <i>SHH</i> cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly |
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| Two sisters with RSPRY1‐related spondyloepimetaphyseal dysplasia |
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| <scp><i>SYNGAP1</i></scp>‐related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights |
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✓ |
✓ |
Korean |
| The society for craniofacial genetics and developmental biology 46th annual meeting |
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| Clinical outcomes and medical management of achondroplasia in <scp>Japanese</scp> children: A retrospective medical record review of clinical data |
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| Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997–2019 |
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| Novel biallelic <scp><i>ZNF335</i></scp> variant causing primary microcephaly: <scp>A</scp> case report and radiological review |
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Nepalese ancestry |
| Importance of the biochemical investigations for the functional characterization of a <scp><i>NPC1</i></scp> variant identified by exome sequencing |
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| A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course |
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| Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the <i>IKBKG</i> gene |
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| When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population |
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| Diagnostic findings and yield of investigations for children with developmental regression |
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| A de novo frameshift variant in <scp><i>MED13</i></scp> gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis |
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| Anxiety in Turner syndrome: Engaging community to address barriers and facilitators to diagnosis and care |
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| Developmental and behavioral phenotypes of pediatric patients with <scp><i>PTEN</i></scp> hamartoma tumor syndrome |
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| Patient experiences of receiving a diagnosis of hypermobile <scp>Ehlers–Danlos</scp> syndrome |
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| <scp>RNA</scp> analysis and computer‐aided facial phenotyping help to classify a novel <i>TRIO</i> splice site variant |
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| <i>ELMO2</i> biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review |
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| Medical findings and congenital anomalies in <scp>Vermeer's</scp> paintings |
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| Resolution of severe neurobehavioral difficulties in an individual with Primrose syndrome with sertraline |
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| Early‐onset <scp>West</scp> syndrome with developmental delay associated with a novel <i>KLHL20</i> variant |
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| Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic <scp><i>CACNA1D</i></scp> variant |
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| Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions |
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| A further case of chondrodysplasia with growth failure occurring after hematopoietic stem cell transplantation (<scp>HSCT</scp>) |
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| 14q22.3 duplication including <scp><i>OTX2</i></scp> in a girl with medulloblastoma: A case report with literature review |
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| Novel biallelic <i>SASS6</i> variants associated with primary microcephaly and fetal growth restriction |
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| Next generation sequencing reveals novel compound heterozygous deletions in <i>NDUFAF2</i> in a child with mitochondrial complex I deficiency, nuclear type 10 |
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| Estimation of carrier frequencies utilizing the <scp>gnomAD</scp> database for <scp>ACMG</scp> recommended carrier screening and <scp>Finnish</scp> disease heritage conditions in non‐<scp>Finnish Euro |
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non‐Finnish European; Finnish; Ashkenazi Jewish |
| First Gene Therapies Approved for Sickle Cell Disease |
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| In This Issue |
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| Table of Contents, Volume 194A, Number 4, April 2024 |
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| Megalencephaly secondary to a novel germline missense variant <scp>p.Asp322Tyr</scp> in <i>AKT3</i> associated with growth hormone deficiency and central hypothyroidism: A case report |
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| Three Genes Associated with Neurodevelopmental Disorders Identified |
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| Intracranial calcifications simulating <scp>Aicardi‐Goutières</scp> syndrome in <scp><i>PARS2</i></scp>‐related mitochondrial disease |
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| <scp>LUMBAR syndrome–OEIS</scp> complex overlap: A case series and review |
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| Taking the risk. A systematic review of ethical reasons and moral arguments in the clinical use of polygenic risk scores |
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| <scp><i>TECPR2</i></scp>‐related hereditary sensory and autonomic neuropathy in two siblings from Palestine |
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individuals of European ancestry; Palestinian siblings; Palestinian populations |
| Unraveling a history of overlap: A phenotypic comparison of <scp><i>RBCK1</i></scp>‐related disease and glycogen storage disease type <scp>IV</scp> |
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| Communication of individuals with <scp>CDKL5</scp> deficiency disorder as observed by caregivers: A descriptive qualitative study |
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| Rare predicted deleterious <scp><i>FEZF2</i></scp> variants are associated with a neurodevelopmental phenotype |
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| <i>SMC1A</i> epilepsy syndrome: clinical data from a large international cohort |
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| 3q29 duplications: A cohort of 46 patients and a literature review |
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| De novo variants predicting haploinsufficiency for <scp><i>DIP2C</i></scp> are associated with expressive speech delay |
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| Hematologic malignancies in <scp>Li–Fraumeni</scp> syndrome: A case report |
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| <i>RET</i> 634 germline/gonadal mosaicism generating a second pathogenic amino acid change in multiple endocrine neoplasia type 2A |
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| Identification of a novel splice‐site <i>WWOX</i> variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy |
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| Biallelic <scp><i>OTUD6B</i></scp> variants associated with a Kabuki syndrome‐like disorder in three siblings: A clinical report and literature review |
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| Growth charts for weight and height of Indian children with Down syndrome |
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| Metastatic adrenal gland neuroblastoma in an infant with trisomy 18: A case report |
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| Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex |
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| Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease |
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| <scp>PRKACA</scp>‐related, atrial defects‐polydactyly‐multiple congenital malformation syndrome in an Indian patient |
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Indian |
| A case report on deficiency of adenosine deaminase 2 with relapse–remission course and analysis of genotype–phenotype correlation |
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| Identification of novel <i>MYH14</i> variants in families with autosomal dominant sensorineural hearing loss |
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| Australian researcher's perspectives on the Australian industry‐led moratorium on genetic tests in life insurance |
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| Monodactyly in a patient with <scp>CHARGE</scp> syndrome: An additional case report |
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| <scp><i>EFEMP1</i></scp> haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder |
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| <scp><i>RMRP</i></scp>‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review |
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Finnish, Amish, Japanese, Japanese individuals, Finnish individuals, Amish populations |
| Susan D. Klugman, MD, FACOG, FACMG |
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| Table of Contents, Volume 194A, Number 3, March 2024 |
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| In This Issue |
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| Personal journeys to and in human genetics and dysmorphology |
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| Cerebellar heterotopia in an 11‐year‐old child with <scp><i>KDM6B</i></scp>‐related neurodevelopmental disorder: A case report and review of the literature |
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| Erratum to “De novo missense variants in <scp><i>ZBTB47</i></scp> are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities” |
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| First‐trimester noninvasive prenatal diagnosis of seven facioscapulohumeral muscular dystrophy type 1 families using <scp>SNP</scp>‐based amplicon sequencing: An earlier, rapid and safer way |
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| Prevalence and descriptive epidemiology of choanal atresia and stenosis in Texas, 1999–2018 |
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| Development of specific growth charts for children with Fanconi anemia |
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| The impact of a virtual mind–body program on symptoms of depression and anxiety among international <scp>English</scp>‐speaking adults with neurofibromatosis |
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| Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic <i>AKT3</i> pathogenic variants |
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| Expanding the phenotype of <scp><i>UPF3B</i></scp>‐related disorder: <scp>Case</scp> reports and literature review |
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| A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome |
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| <i>PUF60</i> loss‐of‐function with normal cognition should be considered in the differential diagnosis of Klippel–Feil syndrome |
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| Feeding tube use and complications in <scp>Prader‐Willi</scp> syndrome: Data from the <scp>Global Prader‐Willi Syndrome Registry</scp> |
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| Unraveling the molecular diagnosis of metaphyseal enchondromatosis with <scp>D‐2‐hydroxyglutaric</scp> aciduria: A <scp>22‐year</scp> quest |
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| Medulloblastoma and other neoplasms in patients with heterozygous germline <scp><i>SUFU</i></scp> variants: A scoping review |
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| Epilepsy in Legius syndrome: Coincidence or causation? |
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| Early diagnostic clues of mucolipidosis type II: Significance of radiological findings |
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| Naturally occurring splice variants dissect the functional domains of <scp>BHC80</scp> and emphasize the need for <scp>RNA</scp> analysis |
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| Whole genome sequencing as a first‐tier diagnostic test for infants in neonatal intensive care units: <scp>A</scp> pilot study in <scp>Brazil</scp> |
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| <scp>ARID2</scp>, a milder cause of <scp>Coffin‐Siris Syndrome</scp>? Broadening the phenotype with 17 additional individuals |
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| Corrigendum to “Gain‐of‐function pathogenic variants in <scp><i>SMAD4</i></scp> are associated with neoplasia in Myhre syndrome” |
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| X‐linked congenital adrenal hypoplasia: Report of long clinical follow‐up and description of a new complex variant in the <i>NR0B1</i> gene |
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| Data from electronic healthcare records expand our understanding of X‐linked genetic diseases |
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| Metabolic and other morbid complications in congenital generalized lipodystrophy type 4 |
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| Complex balanced intrachromosomal rearrangement involving <scp><i>PITX2</i></scp> identified as a cause of <scp>Axenfeld‐Rieger</scp> Syndrome |
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| Understanding chronic pain in <scp>Neurofibromatosis Type 1</scp> using the <scp>Neurofibromatosis Pain Module</scp> (<scp>NFPM</scp>) |
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| Progressive encephalopathy after routine 4‐month immunizations in a patient with <i>NAXD</i> genetic variant |
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| Evaluation of functionality‐mobility in patients with skeletal dysplasias. Application of the STEMS tool (“everyday symptoms and mobility screening tool for skeletal dysplasias”) |
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| Table of Contents, Volume 194A, Number 2, February 2024 |
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| David W. Smith Workshop: 44 Years and Going Strong |
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| The Legacy of David W. Smith |
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| In This Issue |
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| Extended phenotypic characterization of a novel <scp>Helsmoortel‐van der Aa</scp> syndrome case series |
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| Recurrent missense variant identified in two unrelated families with <scp><i>MPZL2</i></scp>‐related hearing loss, expanding the variant spectrum associated with <scp>DFNB111</scp> |
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| Novel <scp><i>CHRNA3</i></scp> variants identified in a patient with bladder dysfunction, dysautonomia, and gastrointestinal dysmotility |
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| An unusual diagnosis of alpha‐mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation |
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| Expanding the phenotypic spectrum for <i>CDK8</i>‐related disease: A case report |
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| The first Turkish family with a novel biallelic missense variant of the <i>ALKBH8</i> gene: A study on the clinical and variant spectrum of <i>ALKBH8</i>‐related intellectual developmental disorders |
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✓ |
✓ |
Turkish |
| c.202_204del in <scp><i>NUP214</i></scp> causes late onset form of febrile encephalopathy |
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| Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline |
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| Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and <scp>RNA</scp> sequencing |
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| Further evidence that the neurodevelopmental gene <scp><i>FBXW7</i></scp> predisposes to <scp>Wilms</scp> tumor |
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| Split‐hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India |
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✓ |
✓ |
Indian |
| Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder |
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| Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data |
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| Diagnosis of <i>TET3</i>‐Related Beck–Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a <scp>DNA</scp> Methylation Signature |
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| Specialty Care Oases: Utilizing Geographic Information Systems to Evaluate Specialty Care Access for Individuals With Down Syndrome |
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| Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of <scp><i>CNKSR2</i></scp> in the Houge Type of X‐Linked Syndromic Intellectual Development Dis |
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| Familial <i>RPL26</i> Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia |
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| A Deep Intronic Splice Variant in <i>COL1A1</i> Causing Osteogenesis Imperfecta Type <scp>II</scp> |
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| Nonrecurrent Triplication of 5q21.3q23.3: A Case Report and Review of the Literature |
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| Identification of a Founder <scp><i>GLDN</i></scp> Variant Associated With “Lethal” Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long‐Term Survivors' Management |
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| Expansion of the Phenotype of You‐Hoover‐Fong Syndrome and Possible Increased Risk of Cancer |
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| Recurrent <scp><i>FLNA</i> p.Gly1554Arg</scp> Variant Associated With Familial Ebstein Anomaly and Joint Stiffness |
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| Prenatal Diagnosis of Proteus Syndrome: About a Case |
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| Sodium Oxybate‐Treated Familial Myoclonus‐Dystonia Syndrome Due to Novel <scp><i>SGCE</i></scp> Variant |
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