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

Article	Citations
Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome	62
Bone health in RASopathies	51
Skeletal dysplasias in art and antiquities: A cultural journey through genes, environment, and chance	41
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic	36
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	35
Clinical trials for genetic diseases in Latin America	29
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome	28
Endocrinological manifestations in RASopathies	28
Catatonia responsive to corticosteroids in a patient with an SCN2A variant	28
Northwest Indigenous Art and the Inspiring Spirits	26
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort	26
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics	23
Obstetrics and gynecology in Ehlers‐Danlos syndrome: A brief review and update	23
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients	23
Cover Image, Volume 187, Number 4, December 2021	22
Evolution of Health Care in Turner Syndrome	20
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation	19
Central nervous system involvement in individuals withRASopathies	19
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals	19
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools	18
A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets	18
Down syndrome across the lifespan	17
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Table of Contents, Volume 196, Number 4, December 2024	16
Fascial thickness and stiffness in hypermobile Ehlers‐Danlos syndrome	15

Advances in assessment of hypermobility‐related disorders	14
My Journey With Arthrogryposis and Some of the People Who Made a Difference	14
Co‐occurring conditions in Down syndrome: Findings from a clinical database	13
Mythological figures in art and genetics: Current perspectives on cyclopia and chimerism	13
Retrospective review of the code status of individuals with Down syndrome during the COVID‐19 era	13
Publication schedule for 2023	13
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Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade‐long experience	12
The stories behind the art—Malformations and Hindu mythology	11
Genetic testing and glomerular hematuria—A nephrologist's perspective	11
Children with Down syndrome who experience developmental skill loss, characterization, and phenomenology: A case series	11
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome	11
Correction to “Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community”	10
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype	10
Family Lore, a Variant of Uncertain Significance, and CADASIL	10
Caregivers' concerns and supports needed to care for adults with Down syndrome	10
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia	10
Reflections on Velázquez's “Don Baltasar Carlos with a Dwarf”	9
Cover Image, Volume 190, Number 1, March 2022	9
Adult experiences in Beckwith–Wiedemann syndrome	9
Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes	9
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care	8
Normal joint range of motion in children with Down syndrome	8
Occurrence of mosaic Down syndrome and prevalence of co‐occurring conditions in Medicaid enrolled adults, 2016–2019	8
The portrayal of people with dwarfism in Chinese art	7
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1	7
Cover Image, Volume 193, Number 1, March 2023	7
Cover Image, Volume 196, Number 1, March 2024	7
In Utero Therapies, the Next Frontier	7
A plot TWIST	7
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	7
Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders	7
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	7
Data sharing to advance gene‐targeted therapies in rare diseases	6
Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies	6
Table of Contents, Volume 190, Number 2, June 2022	6
A case–control study of respiratory medication and co‐occurring gastrointestinal prescription burden among persons with Ehlers–Danlos syndromes	6
Ophthalmologic and neuro‐ophthalmologic findings in children with Down syndrome	6
Table of Contents, Volume 193, Number 4, December 2023	6
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	6
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	6
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review	6
Cover Image, Volume 190, Number 3, September 2022	6
Genesis and genetics of a miracle	5
Circles	5
The earliest depictions of a PIK3CA‐Related Overgrowth Spectrum disorder: 17th‐18th century prints of women with severe limb overgrowth	5
Publication schedule for 2021	5
Table of Contents, Volume 193, Number 1, March 2023	5
Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency	5
The Clubfoot, Le Pied‐Bot	4

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New prospectives on treatment opportunities in RASopathies	4
Artificial intelligence and the impact on medical genetics	4
From the Luttrell Psalter to the Lobster Boy: Split hand and foot awaken many facets of human nature	4
The National Institutes of Health INvestigation of Co‐occurring conditions across the Lifespan to Understand Down syndromE (INCLU	4
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias	4
Autosomal dominant tubulointerstitial kidney disease: A review	4
Urogynaecology and Ehlers–Danlos syndrome	3
The heart in RASopathies	3
Invisible strings	3
Table of Contents, Volume 193, Number 3, September 2023	3
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder	3
Publication schedule for 2023	3
Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome	3
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Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome	3
Systematic assessment of monogenic etiology in adult‐onset kidney stone formers undergoing urological intervention–evidence for genetic pretest probability	3
Cover Image, Volume 193, Number 3, September 2023	3
Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene	3
Publication schedule for 2022	3
Pain in the Ehlers–Danlos syndromes: Mechanisms, models, and challenges	3
Comment From the Guest Editors	3
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Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy	2
Introduction to special issue for kidney genetics	2
OFD1: One gene, several disorders	2
Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome	2
Overlap between irritable bowel syndrome and hypermobileEhlers–Danlossyndrome: An unexplored clinical phenotype?	2
Spreading the Word: Communicating Evidence‐Based Guidelines About Turner Syndrome to Patients, Parents, Providers, and Payors	2
On stillness	2
Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features	2
Newborn screening for neurodevelopmental diseases: Are we there yet?	2
Table of Contents, Volume 187, Number 2, June 2021	2
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics	2
Application of facial analysis Technology in Clinical Genetics: Considerations for diverse populations	2
Cross‐cultural representations of conjoined twins	2
Family adaptation in families of individuals with Down syndrome from 12 countries	2
Clinical overview on RASopathies	2
The discipline of dysmorphology and the beauty of art	2
Cover Image, Volume 190, Number 2, June 2022	2
The art of Robert J. Gorlin, DDS, MS	2
Literature review: Genetic conditions or anomalies in artworks	2
Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes	2
The person looking out	2
Cover Image, Volume 187, Number 2, June 2021	2
First a Provider, Now a Patient: Receiving a Devastating Diagnosis Through the Patient Portal	2
Molecular advances, clinical management, and treatment opportunities in RASopathies	2
Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co‐morbidities: Reports from EDS ECHO	1
Publication schedule for 2023	1
Spectrum of white matter abnormalities associated with FOXC1‐related disorders in two unrelated cases	1
Healthy transition: Roadmap for young adults with Down syndrome to adulthood	1
High rate of dyspareunia and probable vulvodynia in Ehlers–Danlos syndromes and hypermobility spectrum disorders: An online survey	1
Oral manifestations of Ehlers‐Danlos syndromes	1
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Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18	1
Publication schedule for 2022	1
Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, andEhlers–Danlossyndromes	1
Growth and Growth‐Promoting Treatments in Turner Syndrome	1
Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening	1
Patients withEhlers–Danlossyndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey	1
Asymmetric faces: Symbolic, spiritual, and representative	1
The power of patient‐led global collaboration	1
In search of the earliest images of symmelia in works of art	1
Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed‐methods study	1
Psychopharmacological treatments in Down syndrome and autism spectrum disorder: State of the research and practical considerations	1
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Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies	1
Mental health in adults living with arthrogryposis multiplex congenita	1
Different, Not Less	1
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol	1
Why must the debate continue on Krabbe disease newborn screening?	1
Turner Syndrome and Psychosocial Interventions: Recommendations for Collaborative Communication Between Medical and School Teams	1
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Applications of artificial intelligence in clinical laboratory genomics	1
A review of economic issues for gene‐targeted therapies: Value, affordability, and access	1
Quality of life measures in children with Down syndrome with disorders of gut–brain interaction	1
Gene‐targeted therapies: Overview and implications	1
Note from the editors	1
Dysautonomia in the Ehlers–Danlos syndromes and hypermobility spectrum disorders—With a focus on the postural tachycardia syndrome	1
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Practicalities (and real‐life experiences) of dementia in adults with Down syndrome

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