Edited By: Reiner A. Veitia
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An international journal of medical genetics, molecular medicine and personalized medicine, Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practicing clinical geneticist. We publish research articles, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.
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Articles
Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder
- 5 December 2024
Graphical Abstract
We report two unrelated families with biallelic variants in LRRC45 and show impaired ciliogenesis in patient cells. We propose that defects in LRRC45 lead to a novel subtype of ciliopathy with developmental abnormalities of the brain. Taken together this study adds to a growing body of evidence for the physiological relevance of distal appendage proteins, LRRC45 being one of them, in regulating ciliogenesis during brain development and morphogenesis.
Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families
- 5 December 2024
Graphical Abstract
Limb anomalies in eight families.
Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations
- 4 December 2024
Graphical Abstract
Five patterns of TEK variants (P1–P5) were identified from a retrospective review of 88 VM cases with a total of 107 clinically significant TEK variants. The correlation of clinical features among P1–P5 variant patterns was investigated from two different aspects: the malformation types and the affected anatomical locations.
A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII
- 2 December 2024
Graphical Abstract
We first reported a case of type XXII osteogenesis imperfecta caused by the homozygous c.492G > C (p. Leu164=) variant in the CCDC134 gene, which was identified by RNA sequencing analysis as an abnormal splicing variant causing deletion of Exon 5.
WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly
- 29 November 2024
Graphical Abstract
WDFY3 (MIM#617485) defects may manifest neurodevelopmental disorders (NDDs) and opposite effects on brain size based on allelic effect. This case highlights a heterozygous WDFY3 nonsense variant linked to mild-to-moderate NDDs, macrocephaly, and unique facial features. Findings emphasize the importance of exome sequencing in NDDs for accurate diagnosis and clinical management.
The following is a list of the most cited articles based on citations published in the last three years, according to CrossRef.
Liquid biopsy in breast cancer: A comprehensive review
- 643-660
- 22 January 2019
Graphical Abstract
Liquid biopsy can be used as a tool to advance individualized targeted therapy. a) At early stages of diagnosis, various components of liquid biopsy can be utilized for initial screening of breast cancer patients. At the primary steps, different isolation and enrichment methods can be used for each type of the tumor component. Later, analysis of these components can provide insight into the nature of the tumor, such as its unique genetic and epigenetic profile. This will allow clinicians to provide targeted treatment to each patient. b) Subsequent to tumor resection surgery, liquid biopsy can be utilized to monitor the patient for relapse. Due to pre-surgical analysis of the tumor, the known genetic profile of the primary tumor can be used to monitor for signs of recurrence.
Epigenetic modifications in cancer
- 303-311
- 14 November 2011
X‐chromosome inactivation in female patients with Fabry disease
- 44-54
- 14 May 2015
Genes and mutations causing retinitis pigmentosa
- 132-141
- 23 May 2013
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines
- Clinical Genetics
- 13-26
- 29 April 2024
Graphical Abstract
Minimal criteria for genetic confirmation of facioscapulohumeral muscular dystrophy.
Premature aging disorders: A clinical and genetic compendium
- Clinical Genetics
- 3-28
- 28 August 2020
Graphical Abstract
Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder
- Clinical Genetics
- 512-517
- 11 June 2024
Graphical Abstract
By performing re-analysis of previously generated WGS data, we identify an individual with a de novo RNU4-2 pathogenic variant ending a longstanding diagnostic odyssey and describe in detail the clinical phenotypes.
Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum
- Clinical Genetics
- 499-509
- 14 January 2024
Graphical Abstract
A comprehensive literature review and assessment of 32 newly identified patients with Hao-Fountain syndrome elucidate the neurodevelopmental trajectory of this disorder, highlighting previously unreported features such as an altered pain threshold. Genotype-phenotype analysis reveals a correlation between missense mutations located in the catalytic domain and a more severe clinical phenotype.
Mechanisms of Mendelian dominance
- Clinical Genetics
- 419-428
- 28 July 2017
Graphical Abstract
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement
- Clinical Genetics
- 32-47
- 8 July 2021
Graphical Abstract
XXX.
ANKRD11 variants: KBG syndrome and beyond
- Clinical Genetics
- 187-200
- 5 May 2021
Graphical Abstract
Recommendations for the predictive genetic test in Huntington's disease
- Clinical Genetics
- 221-231
- 19 April 2013
Liquid biopsy in breast cancer: A comprehensive review
- Clinical Genetics
- 643-660
- 22 January 2019
Graphical Abstract
Liquid biopsy can be used as a tool to advance individualized targeted therapy. a) At early stages of diagnosis, various components of liquid biopsy can be utilized for initial screening of breast cancer patients. At the primary steps, different isolation and enrichment methods can be used for each type of the tumor component. Later, analysis of these components can provide insight into the nature of the tumor, such as its unique genetic and epigenetic profile. This will allow clinicians to provide targeted treatment to each patient. b) Subsequent to tumor resection surgery, liquid biopsy can be utilized to monitor the patient for relapse. Due to pre-surgical analysis of the tumor, the known genetic profile of the primary tumor can be used to monitor for signs of recurrence.
Digenic inheritance and genetic modifiers
- Clinical Genetics
- 429-438
- 4 October 2017
Graphical Abstract
Depiction of 3 distinct scenarios of co-inheritance of 2 mutations.
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Editor-in-Chief
Reiner A. Veitia, PhD, is a Professor of Genetics at Paris Diderot University, Paris, France.
Veitia's research focus is primarily on the genetics of premature ovarian insufficiency, nonepithelial ovarian malignancies and the molecular basis of genetic dominance.
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