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Title
Prenatal exome sequencing in fetuses with callosal anomalies
Authors
Keywords
-
Journal
PRENATAL DIAGNOSIS
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2022-01-28
DOI
10.1002/pd.6107
References
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Related references
Note: Only part of the references are listed.- Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
- (2020) Solveig Heide et al. GENETICS IN MEDICINE
- Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study
- (2019) Slavé Petrovski et al. LANCET
- Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
- (2019) Jenny Lord et al. LANCET
- SCN2A mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders
- (2019) Victoria Vlachou et al. JOURNAL OF GENETICS
- A Neuropsychological Profile for Agenesis of the Corpus Callosum? Cognitive, Academic, Executive, Social, and Behavioral Functioning in School-Age Children
- (2018) Vanessa Siffredi et al. JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY
- Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
- (2017) Solveig Heide et al. JOURNAL OF PEDIATRICS
- Outcome of isolated enlarged cisterna magna identified in utero: experience at a single medical center in mainland China
- (2017) Zequn Liu et al. PRENATAL DIAGNOSIS
- Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound
- (2017) M.C. de Wit et al. PRENATAL DIAGNOSIS
- Promises, pitfalls and practicalities of prenatal whole exome sequencing
- (2017) Sunayna Best et al. PRENATAL DIAGNOSIS
- Clinical application of whole-exome sequencing across clinical indications
- (2015) Kyle Retterer et al. GENETICS IN MEDICINE
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- De NovoHeterozygous Mutations inSMC3Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
- (2015) María Concepción Gil-Rodríguez et al. HUMAN MUTATION
- Truncating mutations in the last exon ofNOTCH3cause lateral meningocele syndrome
- (2014) Karen W. Gripp et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Agenesis of the corpus callosum: A clinical approach to diagnosis
- (2014) Elizabeth Emma Palmer et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Gain-of-functionADCY5mutations in familial dyskinesia with facial myokymia
- (2014) Ying-Zhang Chen et al. ANNALS OF NEUROLOGY
- Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes
- (2014) Timothy J. Edwards et al. BRAIN
- An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects
- (2014) Anupam Rao et al. European Journal of Medical Genetics
- Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (How are the children without corpus callosum at 10 years of age?)
- (2012) Marie-Laure Moutard et al. PRENATAL DIAGNOSIS
- Counseling in fetal medicine: agenesis of the corpus callosum
- (2012) S. Santo et al. ULTRASOUND IN OBSTETRICS & GYNECOLOGY
- Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy
- (2009) Annemieke J.M.H. Verkerk et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients
- (2008) Chayim Can Schell-Apacik et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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