Table of Contents, Volume 199, Number 1, March 2025

Table of Contents, Volume 196, Number 4, December 2024
Publicado: (2024)

Cover Image, Volume 196, Number 4, December 2024
Publicado: (2024)

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol
por: Simone Gasparini, et al.
Publicado: (2024)

Treatment of PDGFRB ‐Related Penttinen Syndrome With Imatinib in a Young Child
por: Molly McPheron, et al.
Publicado: (2025)

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
por: Caleb P. Bupp, et al.
Publicado: (2025)

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review
por: Inger Lily Hjuler Dorf, et al.
Publicado: (2025)

In Utero Therapies, the Next Frontier
por: Teodora R. Kolarova, et al.
Publicado: (2025)

Research Review of Myhre Syndrome
por: Maggie R. Brand, et al.
Publicado: (2025)

A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets
por: Shelby E. Redfield, et al.
Publicado: (2025)

Correction to “The Rise of the Genetic Counseling Profession in China”
Publicado: (2025)

Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome
por: Marisa E. Cicione, et al.
Publicado: (2025)

Non‐Invasive Prenatal Testing by Cell‐Free DNA ( cfNIPT ) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes
por: Ivonne Bedei, et al.
Publicado: (2025)

Growth and Growth‐Promoting Treatments in Turner Syndrome
por: Roopa Kanakatti Shankar, et al.
Publicado: (2025)

Turner Syndrome and Psychosocial Interventions: Recommendations for Collaborative Communication Between Medical and School Teams
por: Mackenzie Z. Norman, et al.
Publicado: (2025)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
por: Yiyao Chen, et al.
Publicado: (2025)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
por: Abdallah F. Elias
Publicado: (2025)

Spreading the Word: Communicating Evidence‐Based Guidelines About Turner Syndrome to Patients, Parents, Providers, and Payors
por: Angela E. Lin, et al.
Publicado: (2025)

Evaluation of the Mid and Lower Face in Three Females With Myhre Syndrome: Objective Methods to Supplement Subjective Assessment
por: Mohammad Mousavian, et al.
Publicado: (2025)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data
por: Mary K. Young, et al.
Publicado: (2025)

Comments From the Guest Editors
por: Melissa Crenshaw, et al.
Publicado: (2025)

Comment From the Guest Editors
por: Melissa L. Crenshaw, et al.
Publicado: (2025)

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team
por: Katya de Groote, et al.
Publicado: (2025)

Targeted Therapies for Genetic Conditions: Guest Editor Remarks
por: Margaret P. Adam
Publicado: (2025)

Circles
por: Victoria Mok Siu, et al.
Publicado: (2024)

Genesis and genetics of a miracle
por: Victoria Mok Siu
Publicado: (2024)

Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency
por: Amanda Barone Pritchard
Publicado: (2024)

Catatonia responsive to corticosteroids in a patient with an SCN2A variant
por: Kimberly Senko, et al.
Publicado: (2024)

A plot TWIST
por: Sophia R. Meyer, et al.
Publicado: (2024)

Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype–Phenotype Correlation
por: Setu Mittal, et al.
Publicado: (2026)

Evolution of Health Care in Turner Syndrome
por: Roopa Kanakatti Shankar, et al.
Publicado: (2024)

Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation
por: Danielle Spencer
Publicado: (2024)

My Journey With Arthrogryposis and Some of the People Who Made a Difference
por: Judith G. Hall
Publicado: (2024)

Correction to “Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community”
Publicado: (2024)

Occurrence of mosaic Down syndrome and prevalence of co‐occurring conditions in Medicaid enrolled adults, 2016–2019
por: Eric Rubenstein, et al.
Publicado: (2024)

Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation
por: Min Zhu, et al.
Publicado: (2026)

Family Lore, a Variant of Uncertain Significance, and CADASIL
por: Rhys Duarte, et al.
Publicado: (2024)