| Registry‐Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders |
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| Beyond the Extra X and Y Chromosome: The Contribution of Familial Risk for Psychopathology to the Neurodevelopmental Phenotype of Children With Sex Chromosome Trisomy |
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| Self‐Reported Access to Specialized Genetics Providers Among Families of Young Children With Birth Defects in Texas |
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| Research Priorities of Individuals and Families With Sex Chromosome Aneuploidies |
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| Lncrna Catalog Significantly Increased in Gencode |
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| In This Issue |
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| Table of Contents, Volume 197A, Number 3, March 2025 |
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| Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's Hospital |
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| Deletions in the <i>Chaserr</i> Gene Linked to Neurodevelopmental Disorder |
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| Mitochondrial <scp>DNA</scp> or Genomic <scp>DNA</scp> Variant(s): Utility of Exhaustive Sequencing in Leigh Syndrome |
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| Burosumab Treatment in a Girl With Cutaneous Skeletal Hypophosphatemia Syndrome: 2‐Year Follow‐Up |
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| Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations |
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| A Case of Prenatal Diagnosis of <scp><i>NFIA</i></scp>‐Related Disorder Indicated by Noninvasive Prenatal Testing |
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| Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel <scp>SPOP</scp> Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features |
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| Novel <scp><i>A4GALT</i></scp> Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual |
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| <i>KLK11</i>‐Related Disorder of Cornification Presenting as Inflammatory Skin Disease: A Familial Case Report and Literature Review |
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| Identification of Novel Variants in the <scp><i>NHS</i></scp> in Four Turkish Patients With Nance–Horan Syndrome |
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Turkish |
| Presentation and Longer‐Term Outcomes in Mosaic Trisomy 21 Causing Isolated Transient Abnormal Myelopoiesis |
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| Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium‐Dependent Multivitamin Transporter Deficiency |
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| The c.<scp>529G</scp>>A (p.<scp>Ala177Thr</scp>) <scp><i>RNASEH2B</i></scp> Gene Pathogenic Variant as a First‐Line Genetic Test for Aicardi‐Goutières Syndrome: A Case Series of Four Moroccan Famil |
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| <scp><i>MTSS2</i></scp>‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review |
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| A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome |
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Norwegian |
| De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature |
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| A Novel Missense Mutation of the <scp><i>ABL1</i></scp> Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome |
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| Functional Analyses of <i>SATB2</i> Variants Reveal Pathogenicity Mechanisms Linked With <scp>SATB2</scp>‐Associated Syndrome |
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| Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises |
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| Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo <scp><i>PAK2</i></scp> Variant |
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| Cardiac Involvement and <scp><i>TBCK</i></scp>‐Related Neurodevelopmental Disorder: Is It a New Feature of This Condition? |
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| Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams–Beuren Syndrome |
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| <scp>MYRF</scp> Variants in Patients With 46,<scp>XY</scp> Differences/Disorders of Sex Development and Literature Review |
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| Genetic Services in Appalachia Conference Series |
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| A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression |
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| Diverse Clinical Presentation of <i>RAC1</i>‐Related Intellectual Developmental Disorder |
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| Adult‐Onset Hypomagnesemia With Secondary Hypocalcemia Caused by a Novel Variant in <scp><i>TRPM6</i></scp> Gene: A Case Report |
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| Prenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003–2022 |
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| Mitochondrial Complex I Deficiency: Unraveling the Relevance of <scp><i>NDUFAF1</i></scp> in Pediatric Hypertrophic Cardiomyopathy |
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| An Evaluation of the Impact of Genetic Counseling on Adherence to the 2011 American Academy of Pediatrics Health Supervision Guidelines for Children With Down Syndrome |
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| <scp><i>SMAD4</i></scp> Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family |
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| Inpatient Hospitalizations for <scp>COVID</scp>‐19 Among Patients With Prader–Willi Syndrome: A National Inpatient Sample Analysis |
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| Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5‐Year Update |
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| Genotyping as Part of Routine Clinical Care—The Outcomes for a Large Paediatric Vascular Anomaly Cohort |
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| Phenotypic Expansion: Fetus With Cole‐Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia |
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| Three‐Dimensional Gait Analysis of School‐Age Children With Angelman Syndrome: A Case–Control Study |
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| Osteoporosis Caused by Monoallelic Variant of <scp>WNT1</scp> Gene in Four Pediatric Patients |
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| Expanding the Phenotypic Spectrum of <scp>HNRNPU</scp>‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review |
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| Single‐Gene Deletion of <i>FGF3</i> in a Patient With Features of 11q13 Microdeletion Syndrome |
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| A Missense Variant in the <scp><i>IKZF2</i></scp> Gene Identified in a Genetically Undiagnosed Family With Hearing Loss |
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| In Memoriam: Vazken M. Der Kaloustian |
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| Hajdu–Cheney Syndrome, a Rare Cause of Acro‐Osteolysis and Osteoporosis With Zoledronic Acid Experience |
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| Baricitinib Treatment in <scp>RNU7</scp>‐1‐Associated Aicardi–Goutières Syndrome in a South African Child: A Case Report |
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| In This Issue |
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| Table of Contents, Volume 197A, Number 2, February 2025 |
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| Mislocalization is a Common Consequence of Coding Variation |
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| International Expert Opinion on Standard of Care for Patients With Schinzel‐Giedion Syndrome: A Modified Delphi Study |
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