American Journal of Medical Genetics Part C: Seminars in Medical Genetics - 2020

106 articles | Last updated: 2025-12-03 14:12:55

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Table of Contents, Volume 184, Number 4, December 2020
Cover Image, Volume 184, Number 4, December 2020
Publication schedule for 2020
Introduction to the special issue on Clinical Genetics in Latin America
An online compendium of treatable genetic disorders
The Latin American network for congenital malformation surveillance: <scp>ReLAMC</scp>
Adaptation and co‐adaptation of skin pigmentation and vitamin <scp>D</scp> genes in native <scp>Americans</scp>
Case report: Maternal tyrosinemia type 1a under <scp>NTBC</scp> treatment with tyrosine‐ and phenylalanine restricted diet in Chile
Democratizing genomics: Leveraging software to make genetics an integral part of routine care
Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia
Backpack health reduces <scp>data‐sharing</scp> barriers between the medical community and individuals with rare diseases
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States
Generalized hypertrichosis syndromes in Mexico
Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation <scp><i>PSEN1</i></scp> c.<scp>1292C</scp>>A and phenotypic profile of patients
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community
Flype: Software for enabling personalized medicine
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases
Down syndrome on a small Caribbean island: an uphill battle to obtain services and care for affected individuals
Experiences from the epicenter: Professional impact of the <scp>COVID</scp>‐19 pandemic on genetic counselors in New York
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist
Skeletal dysplasias in Latin America
Genomic imbalances in craniofacial microsomia
Genetic admixture in Brazil						✓	✓	✓	European ancestry; Amerindian, African, Sub-Saharan Africans, Europeans, European males, Amerindian and African females
Genetic analysis for carrier diagnosis in hemophilia A and B in the Mexican population: 25 years of experience							✓	✓	Mexican population
Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome
Depiction of ectrodactyly, sirenomelia and cyclopia in a figure by Hokusai
Phenotype–genotype analysis of 242 individuals with <scp>RASopathies</scp>: 18‐year experience of a tertiary center in Brazil
Human recombinant lysosomal <scp>β‐Hexosaminidases</scp> produced in <scp><i>Pichia pastoris</i></scp> efficiently reduced lipid accumulation in <scp>Tay‐Sachs</scp> fibroblasts
The odyssey of complex neurogenetic disorders: From undetermined to positive
Publication schedule for 2020
Cover Image, Volume 184, Number 3, September 2020
<scp>CHARGE</scp> syndrome without colobomas: Ophthalmic findings
Table of Contents, Volume 184, Number 3, September 2020
A diagnostic approach to syndromic retinal dystrophies with intellectual disability
Insights into the regulatory molecules involved in glaucoma pathogenesis
Genetic testing for inherited eye conditions in over 6,000 individuals through the <scp>eyeGENE</scp> network
Ocular genetics in the genomics age
Systemic and ocular manifestations of a patient with mosaic <scp><i>ARID1A</i>‐</scp>a<scp>ssociated Coffin‐Siris</scp> syndrome and review of select mosaic conditions with ophthalmic manifestations
The new landscape of retinal gene therapy
<scp>RP2</scp>‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association							✓	✓	Japanese
Ocular coloboma: Genetic variants reveal a dynamic model of eye development
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature
Ophthalmic genetics practice and research in India: Vision in 2020							✓	✓	Ethnic diversity; consanguinity; second most populous country
Inherited eye diseases in Turkey: Current approaches and future directions
Introduction to the special issue on <scp><i>Ophthalmic Genetics: Vision in 2020</i></scp>
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients
Genetic testing for inherited retinal degenerations: Triumphs and tribulations
Molecular and phenotypic investigation of a New Zealand cohort of childhood‐onset retinal dystrophy
Ophthalmic genetics in South America
Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1		✓
Molecular diagnostic challenges for non‐retinal developmental eye disorders in the United Kingdom
Clinical and genetic characteristics of 10 Japanese patients with <scp><i>PROM1</i></scp>‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese popula						✓			European population
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates							✓	✓	Arab, Indian, Pakistani
Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non‐profit foundation
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in <scp><i>HGSNAT</i></scp>, the gene associated with Sanfilippo C mucopolysaccharidosis
Table of Contents, Volume 184, Number 2, June 2020
Cover Image, Volume 184, Number 2, June 2020
Publication schedule for 2020
High prevalence of cardiometabolic risk features in adolescents with 47,<scp>XXY</scp>/Klinefelter syndrome
Testicular function in boys with 47,<scp>XYY</scp> and relationship to phenotype
Adaptive functioning in children and adolescents with Trisomy X: An exploratory analysis
Executive function in <scp>XXY</scp>: Comparison of performance‐based measures and rating scales
Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective<scp>eXtraordinarY</scp>babies study to identify early risk factors and targets fo
The epidemiology of sex chromosome abnormalities
Sex chromosome aneuploidy alters the relationship between neuroanatomy and cognition
Sex chromosome aneuploidies in 2020—The state of care and research in the world
Morbidity in Klinefelter syndrome and the effect of testosterone treatment
Rare sex chromosome variation 48,<scp>XXYY</scp>: An integrative review
Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47,<scp>XXX</scp> syndrome—A comparison with Turner syndrome and 46,<scp>XX</scp> females
Epigenetics and genomics in Klinefelter syndrome
Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a <scp>non‐invasive</scp> prenatal screen positive for monosomy X
Minipuberty in Klinefelter syndrome: Current status and future directions
Psychological functioning, brain morphology, and functional neuroimaging in Klinefelter syndrome
Specific learning disorders in sex chromosome aneuploidies: Neural circuits of literacy and mathematics
Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy
Metabolic and cardiovascular risk factors in Klinefelter syndrome
Integration and reanalysis of transcriptomics and methylomics data derived from blood and testis tissue of men with 47,<scp>XXY</scp> Klinefelter syndrome indicates the primary involvement of Sertoli
Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies
Genes that escape from X‐chromosome inactivation: Potential contributors to Klinefelter syndrome
41,<scp>XX<sup>Y</sup></scp>* male mice: An animal model for Klinefelter syndrome
The behavioral profile of children aged 1–5 years with sex chromosome trisomy (47,<scp>XXX</scp>, 47,<scp>XXY</scp>, 47,<scp>XYY</scp>)
Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,<scp>XXY</scp> Klinefelter syndrome
Neuropsychological functions, sleep, and mental health in adults with Klinefelter syndrome
Germ cell loss in Klinefelter syndrome: When and why?
Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child
Human sex chromosome aneuploidies: The hypothalamic–pituitary–gonadal axis
Table of Contents, Volume 184, Number 1, March 2020
Publication schedule for 2020
Cover Image, Volume 184, Number 1, March 2020
The state of congenital heart disease
Genetic variants in rheumatic fever and rheumatic heart disease
From cause to care: Can a triple approach to better population data improve the global outlook of congenital heart disease?
Congenital heart disease in school children in Lagos, Nigeria: Prevalence and the diagnostic gap
Genetic considerations for adults with congenital heart disease
22q11.2 deletion syndrome and congenital heart disease
Development of the human heart
The genetics of aortopathies: Hereditary thoracic aortic aneurysms and dissections
Congenital heart disease in low‐and‐middle‐income countries: Focus on sub‐Saharan Africa
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment
Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene‐specific
Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts
Left–right patterning in congenital heart disease beyond heterotaxy
Ethical considerations for cardiac surgical interventions in children with trisomy 13 and trisomy 18
Cardiomyopathy due to <i>PRDM16</i> mutation: First description of a fetal presentation, with possible modifier genes
Investigation of de novo variation in pediatric cardiomyopathy
Other genomic disorders and congenital heart disease