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

Article	Citations
Genetic admixture in Brazil	56
Genotype–phenotype correlates in Joubert syndrome: A review	43
An online compendium of treatable genetic disorders	36
Patients withEhlers–Danlossyndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey	27
Pain in the Ehlers–Danlos syndromes: Mechanisms, models, and challenges	25
Clinical overview on RASopathies	25
Dysautonomia in the Ehlers–Danlos syndromes and hypermobility spectrum disorders—With a focus on the postural tachycardia syndrome	23
Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project	23
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases	23
The molecular genetics of RASopathies: An update on novel disease genes and new disorders	22
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology	22
Democratizing genomics: Leveraging software to make genetics an integral part of routine care	22
The Latin American network for congenital malformation surveillance: ReLAMC	21
Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co‐morbidities: Reports from EDS ECHO	21
Experiences from the epicenter: Professional impact of the COVID‐19 pandemic on genetic counselors in New York	21
Updates on the psychological and psychiatric aspects of the Ehlers–Danlos syndromes and hypermobility spectrum disorders	20
Newborn screening in Latin America: A brief overview of the state of the art	20
OFD1: One gene, several disorders	19
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	18
Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome	18
The role of cilia for hydrocephalus formation	17
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	17
Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey	16
Newborn screening for neurodevelopmental diseases: Are we there yet?	16
Mast cell activation disease and immunoglobulin deficiency in patients with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorder	15

High rate of dyspareunia and probable vulvodynia in Ehlers–Danlos syndromes and hypermobility spectrum disorders: An online survey	14
SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey	14
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	13
Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes	13
Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders	13
Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy	12
The heart in RASopathies	12
Respiratory manifestations in the Ehlers–Danlos syndromes	11
Applications of artificial intelligence in clinical laboratory genomics	11
Orthopedic considerations and surgical outcomes in Ehlers–Danlos syndromes	10
Surgical treatment of abdominal compression syndromes: The significance of hypermobility‐related disorders	10
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist	10
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	10
Throat and voice problems inEhlers–Danlossyndromes and hypermobility spectrum disorders	10
Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation	9
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	9
Gene‐targeted therapies: Towards equitable development, diagnosis, and access	9
New prospectives on treatment opportunities in RASopathies	9
Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like BBS6, 10, and 12 proteins	9
Genomic imbalances in craniofacial microsomia	9
Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome	9
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	9
Skeletal dysplasias in Latin America	8
Oral manifestations of Ehlers‐Danlos syndromes	8
Systematic assessment of monogenic etiology in adult‐onset kidney stone formers undergoing urological intervention–evidence for genetic pretest probability	8
Are we prepared to deliver gene‐targeted therapies for rare diseases?	8
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia	8
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community	8
Flype: Software for enabling personalized medicine	8
A review of economic issues for gene‐targeted therapies: Value, affordability, and access	8
Autosomal dominant tubulointerstitial kidney disease: A review	7
Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers	7
Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, andEhlers–Danlossyndromes	7
Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia	7
Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile	7
Data sharing to advance gene‐targeted therapies in rare diseases	7
Advances in assessment of hypermobility‐related disorders	7
Cancer incidence and surveillance strategies in individuals withRASopathies	7
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies	7
Variant connective tissue (joint hypermobility) and dysautonomia are associated with multimorbidity at the intersection between physical and psychological health	6
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review	6
Teaching healthcare professionals to see	6
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients	6
Pallister‐Hall syndrome, GLI3, and kidney malformation	6
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care	6
Digital peer‐to‐peer information seeking and sharing: Opportunities for education and collaboration in newborn screening	6
Building an infrastructure to enable delivery of genomic medicine	6
When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective	6
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias	6
Incorporating genetics services into adult kidney disease care	6

Some cases of hypermobile Ehlers–Danlos syndrome may be rooted in mast cell activation syndrome	6
Neurocutaneous syndromes in art and antiquities	6
Cross‐cultural representations of conjoined twins	5
Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals	5
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States	5
Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome	5
Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome	5
Biallelic variants in TTC21B as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease	5
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway	5
Urogynaecology and Ehlers–Danlos syndrome	5
Newborn screening for Fabry disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance	5
Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease	4
Dutch teratological collections and their artistic portrayals	4
Adaptation and co‐adaptation of skin pigmentation and vitamin D genes in native Americans	4
Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed‐methods study	4
Genetic analysis for carrier diagnosis in hemophilia A and B in the Mexican population: 25 years of experience	4
Central nervous system involvement in individuals withRASopathies	4
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Bone health in RASopathies	4
Asymmetric faces: Symbolic, spiritual, and representative	4
Rod‐cone dystrophy in an adult with GNB1‐related disorder: An expansion of the phenotype and natural history	4
Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes	4
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics	4
Unmasking the challenges of Kabuki syndrome in adulthood: A case series	3
Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic	3
Mythological figures in art and genetics: Current perspectives on cyclopia and chimerism	3
Overlap between irritable bowel syndrome and hypermobileEhlers–Danlossyndrome: An unexplored clinical phenotype?	3
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	3
The portrayal of people with dwarfism in Chinese art	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
Network‐based analysis using chromosomal microdeletion syndromes as a model	3
Obstetrics and gynecology in Ehlers‐Danlos syndrome: A brief review and update	3
Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade‐long experience	3
Chronic airway disease in primary ciliary dyskinesia—spiced with geno–phenotype associations	3
The stories behind the art—Malformations and Hindu mythology	2
The power of patient‐led global collaboration	2
Co‐occurring conditions in Down syndrome: Findings from a clinical database	2
A painting of the Christ Child with bowed legs: Rickets in the Renaissance	2
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics	2
Dermatological manifestations, management, and care in RASopathies	2
Case report: Maternal tyrosinemia type 1a under NTBC treatment with tyrosine‐ and phenylalanine restricted diet in Chile	2
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort	2
Depiction of Hāloa by Solomon Enos	2
Age‐related survey of clinical genetics literature and related resources	2
Genetic testing to restore the human right to identity in post‐dictatorship Argentina: Ethical, legal, and social issues	2
Caregivers' concerns and supports needed to care for adults with Down syndrome	2
Is artificial intelligence getting too much credit in medical genetics?	2
A case of macrosomia and macroglossia, likely Beckwith‐Wiedemann syndrome from 1628	2
Application of facial analysis Technology in Clinical Genetics: Considerations for diverse populations	2
The earliest depictions of a PIK3CA‐Related Overgrowth Spectrum disorder: 17th‐18th century prints of women with severe limb overgrowth	2
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools	2
Endocrinological manifestations in RASopathies	2
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1	2
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder	2
Genetic testing and glomerular hematuria—A nephrologist's perspective	2
Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66‐year‐old man	2
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Artificial intelligence and the impact on medical genetics	2
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals	2
Literature review: Genetic conditions or anomalies in artworks	2
Generalized hypertrichosis syndromes in Mexico	2
The art of Robert J. Gorlin, DDS, MS	2
Evolving technologies in medical genetics and genomics	2
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome	2
From the Luttrell Psalter to the Lobster Boy: Split hand and foot awaken many facets of human nature	2
DNAJC21‐related thrombocytopenia in a young adult female	1
Can a Christ child have Down syndrome?	1
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Psychopharmacological treatments in Down syndrome and autism spectrum disorder: State of the research and practical considerations	1
The discipline of dysmorphology and the beauty of art	1
Computational facial analysis for rare Mendelian disorders	1
Arachnodactyly represented in art	1
Gene‐targeted therapies: Overview and implications	1
Overgrowth in myth and art	1
Children with Down syndrome who experience developmental skill loss, characterization, and phenomenology: A case series	1
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic	1
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis	1
Special issue: Newborn screening research	1
Retrospective review of the code status of individuals with Down syndrome during the COVID‐19 era	1

The Clubfoot, Le Pied‐Bot	1
Quality of life measures in children with Down syndrome with disorders of gut–brain interaction	1
The observation of art and the art of observing individuals with physical differences	1
Reflections on observing faces in art	1
Adult experiences in Beckwith–Wiedemann syndrome	1
The Art of M. Michael Cohen, Jr.	1
The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders	1
Takotsubo cardiomyopathy secondary to electroconvulsive therapy in a young adult with Down syndrome regression disorder	1
In search of the earliest images of symmelia in works of art	1
Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome	1
Spectrum of white matter abnormalities associated with FOXC1‐related disorders in two unrelated cases	1
The person looking out	1
Autosomal dominant genodermatoses in adults being heralded by superimposed skin lesions in children	1
Parental perceptions of bladder dysfunction in children with symptomatic joint hypermobility	1
Table of Contents, Volume 193, Number 1, March 2023	1
Tribute to my sister: A new look at the X and O of Turner syndrome	1
Why must the debate continue on Krabbe disease newborn screening?	1
Depiction of ectrodactyly, sirenomelia and cyclopia in a figure by Hokusai	1
Description and results of birth defects surveillance and follow‐up programs in Bogotá and Cali, Colombia, 2002–2019	1
Northwest Indigenous Art and the Inspiring Spirits	1
Reflections on Velázquez's “Don Baltasar Carlos with a Dwarf”	1
Skeletal dysplasias in art and antiquities: A cultural journey through genes, environment, and chance	1
Genetic and congenital disorders in pre‐Hispanic Moche pottery	1
Down syndrome on a small Caribbean island: an uphill battle to obtain services and care for affected individuals	1