American Journal of Medical Genetics Part A: Vol 185, No 1

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American Journal of Medical Genetics Part A

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American Journal of Medical Genetics Part A: Volume 185, Issue 1

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COVER IMAGE

Cover Image, Volume 185A, Number 1, January 2021

ISSUE INFORMATION

Table of Contents, Volume 185A, Number 1, January 2021

Publication schedule for 2021

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

Crispr Developers Win 2020 Nobel Prize for Chemistry

Genetic Variants Account for About 14% of Cerebral Palsy Cases

In This Issue

EDITORIAL

The PORCN non-Goltz spectrum (PONGOS): A new group of genetic disorders

ORIGINAL ARTICLES

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Outcome of 45,X fetuses with cystic hygroma: A systematic review

Assessing physical symptoms, daily functioning, and well-being in children with achondroplasia

The goniomaxillar length/goniomandibular length ratio in normal newborn infants: A clinical tool for defining chin position abnormalities

Parenting a child with Marfan syndrome: Distress and everyday problems

The role of novel COQ8B mutations in glomerulopathy and related kidney defects

Rapid deployment of a telemedicine care model for genetics and metabolism during COVID-19

Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review

Parenting stress in families of children with Prader–Willi syndrome

Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours

Novel GLI3 pathogenic variants in complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome

Waiting for a diagnosis in Rubinstein–Taybi: The journey from “ignorance is bliss” to the value of “a label”

A new family with epiphyseal chondrodysplasia type Miura

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations

Clinical characteristics and rate of dilatation in Turner syndrome patients treated for aortic dilatation

Lymphedema distichiasis syndrome may be caused by FOXC2 promoter-enhancer dissociation and disruption of a topological associated domain

ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder

Clinical aspects of a large group of adults with Angelman syndrome

Craniocervical junction issues after infancy in achondroplasia

CLINICAL REPORTS

De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features

Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis

Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome

Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature

Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient

Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?

Variants in NAA15 cause pediatric hypertrophic cardiomyopathy

Inherited intragenic PBX1 deletion: Expanding the phenotype

A new case of osteogenesis imperfecta type VIII and retinal detachment

Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile

Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner

Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review

Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance

CASE REPORTS IN DIVERSE POPULATIONS

Rubinstein-Taybi syndrome in Chinese population with four novel mutations

RESEARCH LETTER

Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: The need for population based screening program

CASE REPORTS IN DIVERSE POPULATIONS

Clericuzio-type poikiloderma with neutropenia in a patient from India

Expanding the phenotype of biallelic loss-of-function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications

RESEARCH REVIEW

Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature

CORRESPONDENCE

MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low-level mosaicism in an unaffected parent

CORRIGENDUM

Corrigendum to “Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype. Am J Med Genet Part A. 2018;176(3):551-559”

This article corrects the following:

Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype

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