American Journal of Medical Genetics Part C-Seminars in Medical Geneti

Article	Citations
The epidemiology of sex chromosome abnormalities	55
Genetic admixture in Brazil	44
Genes that escape from X‐chromosome inactivation: Potential contributors to Klinefelter syndrome	39
Molecular diagnostic challenges for non‐retinal developmental eye disorders in the United Kingdom	36
Genotype–phenotype correlates in Joubert syndrome: A review	34
An online compendium of treatable genetic disorders	29
Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,XXY Klinefelter syndrome	22
Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network	21
Pain in the Ehlers–Danlos syndromes: Mechanisms, models, and challenges	21
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases	21
Patients with Ehlers–Danlos syndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey	21
Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project	21
Experiences from the epicenter: Professional impact of the COVID‐19 pandemic on genetic counselors in New York	20
Democratizing genomics: Leveraging software to make genetics an integral part of routine care	20
Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospectiveeXtraordinarYbabies study to identify early risk factors and targets fo	19
Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child	18
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients	18
Metabolic and cardiovascular risk factors in Klinefelter syndrome	18
The behavioral profile of children aged 1–5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY)	17
Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co‐morbidities: Reports from EDS ECHO	17
Updates on the psychological and psychiatric aspects of the Ehlers–Danlos syndromes and hypermobility spectrum disorders	17
Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47,XXX syndrome—A comparison with Turner syndrome and 46,XX females	17
Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome	16
OFD1: One gene, several disorders	16
Insights into the regulatory molecules involved in glaucoma pathogenesis	16

The Latin American network for congenital malformation surveillance: ReLAMC	16
Morbidity in Klinefelter syndrome and the effect of testosterone treatment	16
The new landscape of retinal gene therapy	16
Clinical overview on RASopathies	15
Epigenetics and genomics in Klinefelter syndrome	14
Newborn screening in Latin America: A brief overview of the state of the art	14
Minipuberty in Klinefelter syndrome: Current status and future directions	14
Dysautonomia in the Ehlers–Danlos syndromes and hypermobility spectrum disorders—With a focus on the postural tachycardia syndrome	14
Ocular coloboma: Genetic variants reveal a dynamic model of eye development	13
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	13
Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies	13
The role of cilia for hydrocephalus formation	13
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SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey	13
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology	12
Molecular and phenotypic investigation of a New Zealand cohort of childhood‐onset retinal dystrophy	12
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis	11
Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non‐profit foundation	11
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature	11
High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndrome	11
Mast cell activation disease and immunoglobulin deficiency in patients with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorder	10
Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c.1292C>A and phenotypic profile of patients	10
The molecular genetics of RASopathies: An update on novel disease genes and new disorders	10
Rare sex chromosome variation 48,XXYY: An integrative review	10
Genetic testing for inherited retinal degenerations: Triumphs and tribulations	10
Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey	10
Throat and voice problems inEhlers–Danlossyndromes and hypermobility spectrum disorders	10
Integration and reanalysis of transcriptomics and methylomics data derived from blood and testis tissue of men with 47,XXY Klinefelter syndrome indicates the primary involvement of Sertoli	10
The odyssey of complex neurogenetic disorders: From undetermined to positive	9
High rate of dyspareunia and probable vulvodynia in Ehlers–Danlos syndromes and hypermobility spectrum disorders: An online survey	9
Sex chromosome aneuploidy alters the relationship between neuroanatomy and cognition	9
Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like BBS6, 10, and 12 proteins	9
Germ cell loss in Klinefelter syndrome: When and why?	9
Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil	9
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	9
Clinical and genetic characteristics of 10 Japanese patients with PROM1‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese popula	9
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist	9
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates	9
Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders	9
Respiratory manifestations in the Ehlers–Danlos syndromes	8
Genomic imbalances in craniofacial microsomia	8
Newborn screening for neurodevelopmental diseases: Are we there yet?	8
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community	8
Surgical treatment of abdominal compression syndromes: The significance of hypermobility‐related disorders	8
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	7
The heart in RASopathies	7
A diagnostic approach to syndromic retinal dystrophies with intellectual disability	7
Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non‐invasive prenatal screen positive for monosomy X	7
Human recombinant lysosomal β‐Hexosaminidases produced in Pichia pastoris efficiently reduced lipid accumulation in Tay‐Sachs fibroblasts	7
Human sex chromosome aneuploidies: The hypothalamic–pituitary–gonadal axis	7

Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	7
Gene‐targeted therapies: Towards equitable development, diagnosis, and access	7
Executive function in XXY: Comparison of performance‐based measures and rating scales	7
Advances in assessment of hypermobility‐related disorders	7
Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome	7
Oral manifestations of Ehlers‐Danlos syndromes	7
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia	7
Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups	7
Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes	7
Flype: Software for enabling personalized medicine	7
Systemic and ocular manifestations of a patient with mosaic ARID1A‐associated Coffin‐Siris syndrome and review of select mosaic conditions with ophthalmic manifestations	6
Teaching healthcare professionals to see	6
Skeletal dysplasias in Latin America	6
Psychological functioning, brain morphology, and functional neuroimaging in Klinefelter syndrome	6
Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, and Ehlers–Danlos syndromes	6
Orthopedic considerations and surgical outcomes in Ehlers–Danlos syndromes	6
Are we prepared to deliver gene‐targeted therapies for rare diseases?	6
Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers	6
Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1	6
Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia	6
Sex chromosome aneuploidies in 2020—The state of care and research in the world	6
Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy	6
Digital peer‐to‐peer information seeking and sharing: Opportunities for education and collaboration in newborn screening	5
Cross‐cultural representations of conjoined twins	5
Specific learning disorders in sex chromosome aneuploidies: Neural circuits of literacy and mathematics	5
Some cases of hypermobile Ehlers–Danlos syndrome may be rooted in mast cell activation syndrome	5
When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective	5
Biallelic variants in TTC21B as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease	5
Testicular function in boys with 47,XYY and relationship to phenotype	5
Data sharing to advance gene‐targeted therapies in rare diseases	5
Pallister‐Hall syndrome, GLI3, and kidney malformation	5
A review of economic issues for gene‐targeted therapies: Value, affordability, and access	5
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review	5
RP2‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association	5
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients	5
Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy	5
Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome	4
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies	4
Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome	4
Systematic assessment of monogenic etiology in adult‐onset kidney stone formers undergoing urological intervention–evidence for genetic pretest probability	4
Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation	4
CHARGE syndrome without colobomas: Ophthalmic findings	4
41,XXY* male mice: An animal model for Klinefelter syndrome	4
Ophthalmic genetics in South America	4
Neurocutaneous syndromes in art and antiquities	4
Neuropsychological functions, sleep, and mental health in adults with Klinefelter syndrome	4
Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease	4
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States	4
Dutch teratological collections and their artistic portrayals	4
Building an infrastructure to enable delivery of genomic medicine	4
Adaptation and co‐adaptation of skin pigmentation and vitamin D genes in native Americans	4
Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals	4
Variant connective tissue (joint hypermobility) and dysautonomia are associated with multimorbidity at the intersection between physical and psychological health	4
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias	4
Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile	4
Asymmetric faces: Symbolic, spiritual, and representative	3
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype	3
Fascial thickness and stiffness in hypermobile Ehlers‐Danlos syndrome	3
Overlap between irritable bowel syndrome and hypermobileEhlers–Danlossyndrome: An unexplored clinical phenotype?	3
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Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care	3
Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade‐long experience	3
Applications of artificial intelligence in clinical laboratory genomics	3
Cancer incidence and surveillance strategies in individuals withRASopathies	3
New prospectives on treatment opportunities in RASopathies	3
The portrayal of people with dwarfism in Chinese art	3
Newborn screening for Fabry disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance	3
Genetic analysis for carrier diagnosis in hemophilia A and B in the Mexican population: 25 years of experience	3
Mythological figures in art and genetics: Current perspectives on cyclopia and chimerism	3
Incorporating genetics services into adult kidney disease care	3
Obstetrics and gynecology in Ehlers‐Danlos syndrome: A brief review and update	3
Ophthalmic genetics practice and research in India: Vision in 2020	3
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1	2
Depiction of Hāloa by Solomon Enos	2
Genetic testing to restore the human right to identity in post‐dictatorship Argentina: Ethical, legal, and social issues	2
Autosomal dominant tubulointerstitial kidney disease: A review	2
Adaptive functioning in children and adolescents with Trisomy X: An exploratory analysis	2
Network‐based analysis using chromosomal microdeletion syndromes as a model	2
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway	2
Endocrinological manifestations in RASopathies	2

Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics	2
Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic	2
Inherited eye diseases in Turkey: Current approaches and future directions	2
From the Luttrell Psalter to the Lobster Boy: Split hand and foot awaken many facets of human nature	2
The stories behind the art—Malformations and Hindu mythology	2
A case of macrosomia and macroglossia, likely Beckwith‐Wiedemann syndrome from 1628	2
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome	2
A painting of the Christ Child with bowed legs: Rickets in the Renaissance	2
Literature review: Genetic conditions or anomalies in artworks	2
Case report: Maternal tyrosinemia type 1a under NTBC treatment with tyrosine‐ and phenylalanine restricted diet in Chile	2
The art of Robert J. Gorlin, DDS, MS	2
Ocular genetics in the genomics age	2
Urogynaecology and Ehlers–Danlos syndrome	2
Evolving technologies in medical genetics and genomics	2
Genetic testing and glomerular hematuria—A nephrologist's perspective	2
The power of patient‐led global collaboration	2
Chronic airway disease in primary ciliary dyskinesia—spiced with geno–phenotype associations	2
Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes	2
Dermatological manifestations, management, and care in RASopathies	2
Generalized hypertrichosis syndromes in Mexico	2
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	2
Bone health in RASopathies	2