ORIGINAL RESEARCH
Published on 12 Apr 2022
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
doi 10.3389/fgene.2022.652454
- 6,196 views
- 31 citations
- Frontiers in Genetics
- Human and Medical Genomics
- Research Topics
- Copy Number Variation in Rare Disorders
Copy Number Variation in Rare Disorders
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EDITORIAL
Published on 05 Apr 2022
Editorial: Copy Number Variation in Rare Disorders
doi 10.3389/fgene.2022.898059
- 3,538 views
- 6 citations
CASE REPORT
Published on 20 Aug 2021
Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene
doi 10.3389/fped.2021.664548
- 5,065 views
- 4 citations
ORIGINAL RESEARCH
Published on 30 Jul 2021
Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
doi 10.3389/fgene.2021.645595
- 7,072 views
- 9 citations
ORIGINAL RESEARCH
Published on 11 Jun 2021
CFH and CFHR Copy Number Variations in C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative Glomerulonephritis
doi 10.3389/fgene.2021.670727
- 4,913 views
- 17 citations
ORIGINAL RESEARCH
Published on 08 Jun 2021
Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions
doi 10.3389/fgene.2021.673025
- 3,949 views
- 14 citations
ORIGINAL RESEARCH
Published on 07 May 2021
Overdosage of HNF1B Gene Associated With Annular Pancreas Detected in Neonate Patients With 17q12 Duplication
doi 10.3389/fgene.2021.615072
- 2,785 views
- 7 citations
ORIGINAL RESEARCH
Published on 29 Apr 2021
Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region
doi 10.3389/fgene.2021.635480
- 3,619 views
- 1 citation
REVIEW
Published on 14 Apr 2021
Germline Structural Variations in Cancer Predisposition Genes
doi 10.3389/fgene.2021.634217
- 6,826 views
- 8 citations
ORIGINAL RESEARCH
Published on 14 Apr 2021
Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation
doi 10.3389/fgene.2021.635458
- 10,333 views
- 3 citations
ORIGINAL RESEARCH
Published on 01 Apr 2021
A Novel FLCN Intragenic Deletion Identified by NGS in a BHDS Family and Literature Review
doi 10.3389/fgene.2021.636900
- 2,257 views
- 8 citations
ORIGINAL RESEARCH
Published on 26 Mar 2021
Application of Copy Number Variation Detection to Fetal Diagnosis of Echogenic Intracardiac Focus During Pregnancy
doi 10.3389/fgene.2021.626044
- 3,973 views
- 4 citations
Published in
Frontiers in Genetics
- Human and Medical Genomics
- Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Pediatrics
- 2.1 impact factor
- 3.6 citescore
Impact
- 68kTopic views
- 51kArticle views
- 15kArticle downloads