| Cover Image, Volume 196, Number 4, December 2024 |
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| Table of Contents, Volume 196, Number 4, December 2024 |
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| Table of Contents, Volume 196, Number 2‐3, November 2024 |
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| Cover Image, Volume 196, Number 2‐3, November 2024 |
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| Evolution of Health Care in Turner Syndrome |
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| Different, Not Less |
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| My Journey With Arthrogryposis and Some of the People Who Made a Difference |
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| Correction to “Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community” |
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| Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation |
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| Pink, White, and Probability |
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| Family Lore, a Variant of Uncertain Significance, and <scp>CADASIL</scp> |
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| A Rorschach Test |
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| The Myhre Syndrome Foundation as a global modern support group: The business of rare |
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| Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening |
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| Ode to Fiona: The Face of Fortitude in <scp>FBXL4</scp> Deficiency |
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| First a Provider, Now a Patient: Receiving a Devastating Diagnosis Through the Patient Portal |
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| Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18 |
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| Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening |
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| Shattered Dreams: Reflections on Loss and Resilience |
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| Circles |
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| Significance of Variants of Uncertain Significance: The Human Cost of Genetic Uncertainty |
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| Genesis and genetics of a miracle |
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| Blonde hair, blue eyes |
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| Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders |
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| Invisible strings |
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| Direct‐to‐consumer genome sequencing helps a mother take her child's diagnostic odyssey into her own hands |
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| Catatonia responsive to corticosteroids in a patient with an <i>SCN2A</i> variant |
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| Negative, normal, nondiagnostic |
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| Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome |
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| Multiorgan manifestations of <scp><i>COL4A1</i></scp> and <scp><i>COL4A2</i></scp> variants and proposal for a clinical management protocol |
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| Practicalities (and real‐life experiences) of dementia in adults with Down syndrome |
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| On stillness |
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| Occurrence of mosaic Down syndrome and prevalence of co‐occurring conditions in Medicaid enrolled adults, 2016–2019 |
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✓ |
✓ |
race/ethnicity |
| A plot <i>TWIST</i> |
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| Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype |
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| <scp>Simpson–Golabi–Behmel</scp> syndrome |
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| Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies <i>PCDHGA5</i> as a candidate neurodevelopmental disorder gene |
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| The dream of a diagnosis |
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| Domain‐specific phenotypes in <i>LINS1</i>‐related disorder—A Chinese family with the <scp>Q92X</scp> variant and literature review |
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✓ |
✓ |
Hans of Southern China |
| Table of Contents, Volume 196, Number 1, March 2024 |
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| Cover Image, Volume 196, Number 1, March 2024 |
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| An extra X chromosome among adult women in the <scp>Million Veteran Program</scp>: A more benign perspective of trisomy <scp>X</scp> |
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| The National Institutes of Health <scp>INvestigation</scp> of <scp>C</scp>o‐occurring conditions across the <scp>L</scp>ifespan to <scp>U</scp>nderstand <scp>D</scp>own <scp>syndromE</scp> (<scp>INCLU |
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