American Journal of Medical Genetics Part A: Vol 191, 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 191, Issue 2

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ISSUE INFORMATION

Table of Contents, Volume 191A, Number 2 February 2023

Publication schedule for 2023

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

Addressing the Weaponization of Genetic Research

Evidence Grows for Universal Germline Genetic Testing for Patients with Breast Cancer

In This Issue

ORIGINAL ARTICLES

Obstetrical and neonatal outcomes of cardio-facio-cutaneous syndrome: Prenatal consequences of Ras/MAPK dysregulation

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome

The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience

Familial Beckwith-Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome

5p13 microduplication in a malformed fetus and his unaffected father

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

Conducting clinical genomics research during the COVID-19 pandemic: Lessons learned from the CSER consortium experience

Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features

GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat

The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study

Anxiety in Wiedemann–Steiner syndrome

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

The clinical features of OSTM1-associated malignant infantile osteopetrosis: A retrospective, single-center experience over one decade

Genetic and phenotypic spectrum in the NONO-associated syndromic disorder

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening

Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey

Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics

Validation of a predictive model for obstructive sleep apnea in people with Down syndrome

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

CASE REPORTS

Further characterization of NFIB-associated phenotypes: Report of two new individuals

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5

Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature

Botulinum toxin to improve facial expression in a patient with Urofacial (Ochoa) Syndrome

18-year follow-up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I

SCAF4-related syndromic intellectual disability

Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene

Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia

Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome

SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism

ZDHHC9 X-linked intellectual disability: Clinical and molecular characterization

Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases

Variants in AQP11 may result in autosomal recessive bilateral cystic renal dysgenesis

CASE REPORTS IN DIVERSE POPULATIONS

Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey

GENETIC SYNDROMES IN ADULTS

A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome

CLINICAL REPORTS

A severe clinicopathologic phenotype of RAF1 Ser257Leu neomutation in a preterm infant without cardiac anomaly

CLINICAL ROUNDS

Lessons in genetics: Common diseases occur in patients with a genetic syndrome

RESEARCH LETTER

PORCN-related microphthalmia with limb anomalies: Case report and literature review

ESSAY

Evolution in the clinic: Maladaptive units and “minor anomalies”

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