American Journal of Medical Genetics Part A: Vol 194, No 2

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American Journal of Medical Genetics Part A

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American Journal of Medical Genetics Part A: Volume 194, Issue 2

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ISSUE INFORMATION

Table of Contents, Volume 194A, Number 2, February 2024

THE AJMG SEQUENCE: DECODING NEWS AND TRENDS FOR THE MEDICAL GENETICS COMMUNITY BY ROXANNE NELSON

David W. Smith Workshop: 44 Years and Going Strong

The Legacy of David W. Smith

In This Issue

ORIGINAL ARTICLES

A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program

Long term outcomes in children with trichohepatoenteric syndrome

Influences of sex chromosome aneuploidy on height, weight, and body mass index in human childhood and adolescence

Parental age effects and Rett syndrome

Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center

Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies

Bone health in SATB2-associated syndrome: Results from a large prospective cohort and recommendations for surveillance

Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings

Diagnostic yield of chromosomal microarray in the largest Latino clinical cohort

Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome

Adapting a quality of life scale for children and young people with Down syndrome in Chile

Growth reference charts for children with hypochondroplasia

Live-born autosomal ring chromosomes at the Johns Hopkins Hospital Cytogenomics Laboratory: Case series—Spanning 52 years of experience in a single center

Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications

Causes of death in individuals with trisomy 18 after the first year of life

Psychiatrists' perceptions of and reactions to a simulated psychiatric genetic counseling session

Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication

Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry

Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance

A mesomelic skeletal dysplasia, Kantaputra-like, not related to HOXD cluster region, and with phenotypic gender differences

Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation

CASE REPORTS

ACBD5-related retinal dystrophy with leukodystrophy due to novel mutations in ACBD5 and with additional features including ovarian insufficiency

Clinical utility of early rapid genome sequencing in the evaluation of patients with differences of sex development

The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease

Vissers-Bodmer syndrome caused by a novel de novo CNOT1 frameshift variant

A novel de novo intragenic duplication in FBN1 associated with early-onset Marfan syndrome in a 16-month-old: A case report and review of the literature

EED related overgrowth: First report of multiple members in a single family

A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction

Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa

RESEARCH LETTERS

Growth in puberty in girls with hypochondroplasia, p.Asn540Lys-related mutations

Pathogenic variant in the X-linked ARR3 gene associated with variable early-onset myopia

CORRESPONDENCE

Annular pancreas in two sisters: The story goes on

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