| Table of Contents, Volume 190, Number 4, December 2022 |
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| Publication schedule for 2022 |
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| Cover Image, Volume 190, Number 1, March 2022 |
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| Molecular advances, clinical management, and treatment opportunities in <scp>RASopathies</scp> |
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| Dermatological manifestations, management, and care in RASopathies |
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| New prospectives on treatment opportunities in <scp>RASopathies</scp> |
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| Cancer incidence and surveillance strategies in individuals with<scp>RASopathies</scp> |
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| Management of nutritional and gastrointestinal issues in <scp>RASopathies</scp>: A narrative review |
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| Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome |
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| Bone health in <scp>RASopathies</scp> |
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| Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway |
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| Whole‐genome sequencing holds the key to the success of gene‐targeted therapies |
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| Central nervous system involvement in individuals with<scp>RASopathies</scp> |
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| Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease |
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| Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype |
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| Clinical overview on <scp>RASopathies</scp> |
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| Endocrinological manifestations in RASopathies |
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| The heart in <scp>RASopathies</scp> |
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| The molecular genetics of <scp>RASopathies</scp>: An update on novel disease genes and new disorders |
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| Table of Contents, Volume 190, Number 3, September 2022 |
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| Publication schedule for 2022 |
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| Cover Image, Volume 190, Number 3, September 2022 |
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| Table of Contents, Volume 190, Number 2, June 2022 |
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| Publication schedule for 2022 |
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| Cover Image, Volume 190, Number 2, June 2022 |
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| Autosomal dominant tubulointerstitial kidney disease: A review |
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| The growing power of Kidney Genetics |
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| Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic |
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| Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract |
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| Introduction to special issue for kidney genetics |
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| Dispatches from Biotech beginning <scp>BeginNGS</scp>: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey |
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| Special issue: Newborn screening research |
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| Can we identify <scp>WHIM</scp> in infancy? Opportunities with the public newborn screening process |
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| Pallister‐Hall syndrome, <scp>GLI3</scp>, and kidney malformation |
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| Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes |
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| Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy |
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| Newborn screening for Fabry disease in Oregon: Approaching the iceberg of <scp>A143T</scp> and variants of uncertain significance |
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| Incorporating genetics services into adult kidney disease care |
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| 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 |
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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 |
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| Newborn screening research sponsored by the <scp>NIH</scp>: From diagnostic paradigms to precision therapeutics |
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| Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using p<scp>ost‐analytical</scp> tools |
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| Why must the debate continue on Krabbe disease newborn screening? |
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| Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care |
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| Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed‐methods study |
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| Systematic assessment of monogenic etiology in adult‐onset kidney stone formers undergoing urological intervention–evidence for genetic pretest probability |
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| Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease |
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| Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology |
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| Newborn screening for neurodevelopmental diseases: Are we there yet? |
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| Genetic testing and glomerular hematuria—A nephrologist's perspective |
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| <scp>C3</scp> glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease |
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| Publication schedule for 2022 |
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| Table of Contents, Volume 190, Number 1, March 2022 |
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| Cover Image, Volume 190, Number 1, March 2022 |
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| Biallelic variants in <scp><i>CENPF</i></scp> causing a phenotype distinct from Strømme syndrome |
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| The role of cilia for hydrocephalus formation |
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| Corrigendum Neurocutaneous syndromes in Art and Antiquities. Am J Med Genet C. 2021;187(3):349–356. Doi:10.1002/ajmg.c.31915″ |
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| Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome |
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| Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like <scp>BBS6</scp>, 10, and 12 proteins |
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| Chronic airway disease in primary ciliary dyskinesia—spiced with geno–phenotype associations |
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| Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a <scp><i>CCDC114</i></scp> mutation |
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✓ |
✓ |
Dutch; Volendam; Volendam PCD population |
| Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis |
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| Unlocking the potential of the <scp>UK</scp> 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort |
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| Biallelic variants in <scp><i>TTC21B</i></scp> as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease |
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| Genotype–phenotype correlates in Joubert syndrome: A review |
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| <scp><i>OFD1</i></scp>: One gene, several disorders |
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