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

Papers
(The TQCC of American Journal of Medical Genetics Part C-Seminars in Medical Geneti is 4. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-04-01 to 2025-04-01.)
ArticleCitations
Cover Image, Volume 196, Number 1, March 202455
The heart in RASopathies47
Updates on the psychological and psychiatric aspects of the Ehlers–Danlos syndromes and hypermobility spectrum disorders38
Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed‐methods study29
27
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease27
Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study27
Depiction of Hāloa by Solomon Enos26
Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome25
25
Bone health in RASopathies23
When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective20
In Utero Therapies, the Next Frontier19
Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals19
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic19
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM118
The portrayal of people with dwarfism in Chinese art18
Skeletal dysplasias in art and antiquities: A cultural journey through genes, environment, and chance18
Publication schedule for 202317
Cover Image, Volume 193, Number 3, September 202315
Privacy, bias and the clinical use of facial recognition technology: A survey of genetics professionals14
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies14
Evaluation of Targeted Therapies Currently Available for Congenital Genetic Conditions Indexed in GeneReviews13
Turner Syndrome and Psychosocial Interventions: Recommendations for Collaborative Communication Between Medical and School Teams13
The Myhre Syndrome Foundation as a global modern support group: The business of rare13
Practicalities (and real‐life experiences) of dementia in adults with Down syndrome12
Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders12
Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene12
Oral manifestations of Ehlers‐Danlos syndromes12
Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic11
Urogynaecology and Ehlers–Danlos syndrome11
Clinical trials for genetic diseases in Latin America11
Invisible strings10
The role of cilia for hydrocephalus formation10
Negative, normal, nondiagnostic10
Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening10
Pink, White, and Probability10
Corrigendum Neurocutaneous syndromes in Art and Antiquities. Am J Med Genet C. 2021;187(3):349–356. Doi:10.1002/ajmg.c.31915″10
Neurocutaneous syndromes in art and antiquities9
Different, Not Less9
Table of Contents, Volume 196, Number 2‐3, November 20249
Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome9
A plot TWIST9
Pallister‐Hall syndrome, GLI3, and kidney malformation8
Genotype–phenotype correlates in Joubert syndrome: A review8
Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like BBS6, 10, and 12 proteins8
Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, andEhlers–Danlossyndromes8
Domain‐specific phenotypes in LINS1‐related disorder—A Chinese family with the Q92X variant and literature review7
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract7
Dysautonomia in the Ehlers–Danlos syndromes and hypermobility spectrum disorders—With a focus on the postural tachycardia syndrome7
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome6
Table of Contents, Volume 187, Number 2, June 20216
Mental health in adults living with arthrogryposis multiplex congenita6
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort6
Northwest Indigenous Art and the Inspiring Spirits6
Overgrowth in myth and art6
Publication schedule for 20226
Catatonia responsive to corticosteroids in a patient with an SCN2A variant6
The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders6
The molecular genetics of RASopathies: An update on novel disease genes and new disorders6
Takotsubo cardiomyopathy secondary to electroconvulsive therapy in a young adult with Down syndrome regression disorder6
5
The art of Robert J. Gorlin, DDS, MS5
Some cases of hypermobile Ehlers–Danlos syndrome may be rooted in mast cell activation syndrome5
Cover Image, Volume 193, Number 1, March 20235
Table of Contents, Volume 193, Number 4, December 20235
Publication schedule for 20214
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant4
Sustainability of personal social networks of people with Down syndrome4
Publication schedule for 20224
Cover Image, Volume 190, Number 3, September 20224
Table of Contents, Volume 190, Number 3, September 20224
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome4
Table of Contents, Volume 190, Number 2, June 20224
Introduction to special issue for kidney genetics4
Endocrinological manifestations in RASopathies4
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