CASE REPORT
Published on 25 Nov 2019
Whole-Exome Sequencing Revealed Mutations of MED12 and EFNB1 in Fetal Agenesis of the Corpus Callosum
doi 10.3389/fgene.2019.01201
- 3,241 views
- 10 citations
- Frontiers in Genetics
- Genetics of Common and Rare Diseases
- Research Topics
- Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders
Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders
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Articles
ORIGINAL RESEARCH
Published on 14 Nov 2019
In-Frame Variants in STAG3 Gene Cause Premature Ovarian Insufficiency
doi 10.3389/fgene.2019.01016
- 5,505 views
- 28 citations
CASE REPORT
Published on 06 Nov 2019
Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI
doi 10.3389/fgene.2019.01086
- 5,367 views
- 12 citations
ORIGINAL RESEARCH
Published on 18 Sep 2019
Improved Molecular Diagnosis of McCune–Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR
doi 10.3389/fgene.2019.00862
- 4,456 views
- 16 citations
CASE REPORT
Published on 13 Sep 2019
Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses
doi 10.3389/fgene.2019.00835
- 2,380 views
- 6 citations
CASE REPORT
Published on 11 Sep 2019
A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing
doi 10.3389/fgene.2019.00817
- 4,585 views
- 15 citations
ORIGINAL RESEARCH
Published on 30 Aug 2019
Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome
doi 10.3389/fgene.2019.00813
- 9,432 views
- 17 citations
ORIGINAL RESEARCH
Published on 16 Aug 2019
Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis
doi 10.3389/fgene.2019.00761
- 12,070 views
- 57 citations
ORIGINAL RESEARCH
Published on 10 Jul 2019
De Novo Germline Mutations in SEMA5A Associated With Infantile Spasms
doi 10.3389/fgene.2019.00605
- 3,250 views
- 10 citations
CASE REPORT
Published on 02 Jul 2019
Paternal Low-Level Mosaicism-Caused SATB2-Associated Syndrome
doi 10.3389/fgene.2019.00630
- 4,467 views
- 6 citations
ORIGINAL RESEARCH
Published on 25 Jun 2019
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families
doi 10.3389/fgene.2019.00425
- 6,750 views
- 37 citations
ORIGINAL RESEARCH
Published on 18 Jun 2019
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD
doi 10.3389/fgene.2019.00565
- 4,214 views
- 4 citations
Published in
Frontiers in Genetics
- Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Pediatrics
- 2.1 impact factor
- 3.6 citescore
Impact
- 67kTopic views
- 49kArticle views
- 15kArticle downloads