American Journal of Medical Genetics Part A: Vol 182, No 7

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American Journal of Medical Genetics Part A

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American Journal of Medical Genetics Part A: Volume 182, Issue 7

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COVER IMAGE

Cover Image, Volume 182A, Number 7, July 2020

ISSUE INFORMATION

Table of Contents, Volume 182A, Number 7, July 2020

Publication schedule for 2020

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

Lipoplexes Could be Alternative to Viral Vectors in Gene Therapy

Absence of Functional ACTL6B Gene is Potential Cause of Recessive Autism

In This Issue

EDITORIAL

Going forward in a new world

CONFERENCE REPORT

The Society for Craniofacial Genetics and Developmental Biology 42nd Annual Meeting

NEW SYNDROME

An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology

CASE REPORTS IN DIVERSE POPULATIONS

Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa)

RAPID COMMUNICATION

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

ORIGINAL ARTICLES

Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome

Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes

Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review

Neural and behavioral measures suggest that cognitive and affective functioning interactions mediate risk for psychosis-proneness symptoms in youth with chromosome 22q11.2 deletion syndrome

Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review

Eye tracking as an objective measure of hyperphagia in children with Prader-Willi syndrome

KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations

Aortic arch geometry predicts outcome in patients with Loeys–Dietz syndrome independent of the causative gene

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome

Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?

Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study

Parent perceptions, beliefs, and fears around genetic treatments and cures for children with Angelman syndrome

Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt–Oram syndrome

The burden of chronic disease, multimorbidity, and polypharmacy in adults with Down syndrome

CLINICAL REPORTS

Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence

How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails

Inflammatory manifestations in patients with Shwachman–Diamond syndrome: A novel phenotype

Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review

Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype

CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk

Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients

A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1

Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations

Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants

Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome

RESEARCH LETTERS

Increased T-cell counts in patients with 22q11.2 deletion syndrome who have anxiety

Aortic dilation in Sotos syndrome: An underestimated feature?

Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly

SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder

RESEARCH REVIEW

Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II

CORRESPONDENCE

Long-term follow-up of an individual with ITPR1-related disorder

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