American Journal of Medical Genetics Part A: Vol 194, No 4

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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 4

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ISSUE INFORMATION

Table of Contents, Volume 194A, Number 4, April 2024

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

First Gene Therapies Approved for Sickle Cell Disease

Three Genes Associated with Neurodevelopmental Disorders Identified

In This Issue

ORIGINAL ARTICLES

Ocular manifestations in a cohort of 43 patients with KBG syndrome

“We are not a typical family anymore”: Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia

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

Correction(s) for this article

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”

Ophthalmic manifestations of Czech dysplasia

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene

Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting

Refining the activities of genetic assistants: Development of task statements applicable across practice settings

Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome

The functional study of a novel MKRN3 missense mutation associated with familial central precocious puberty

Cause, severity, and efficacy of treatment for hearing loss in children with Trisomy 18: A single institution-based retrospective study

Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network

Genetic counselors' utilization of ChatGPT in professional practice: A cross-sectional study

De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex

Exploring the evolving roles of clinical geneticists and genetic counselors in the era of genomic medicine

A severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings

Facial dysmorphology in children exposed in pregnancy to anticonvulsant medications correlates with deficits in IQ

CASE REPORTS

A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria

Two novel heterozygous exonic deletions lead to Chanarin–Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction

An adult patient with Tatton–Brown–Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy

SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi–Goutières syndrome

Clinical course and therapeutic trial for a case of congenital secretory diarrhea due to novel GUCY2C variant

Growing up with Marshall syndrome: A case report from infancy to age 12.5 years

Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variants

CASE REPORTS IN DIVERSE POPULATIONS

Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy

RESEARCH LETTER

RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31

CONFERENCE REPORT

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

CORRESPONDENCES

Recognizing the importance of adequate follow-up for hearing impairment in trisomy 18

GENETIC SYNDROMES IN ADULTS

A patient with Pitt–Hopkins syndrome with concomitant common variable immunodeficiency

CLINICAL ROUNDS

Genetics of 21-hydroxylase deficiency: Clinical presentation should guide the investigation

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