Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Claudia M. Nicolae

Heterozygous RNF13 Gain-Of-Function Variants Are Associated With Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive

American Journal of Human Genetics

English

Erratum To: PARP10 Deficiency Manifests by Severe Developmental Delay and DNA Repair Defect

Molecular Neuroscience

English

Related publications

Epileptic Encephalopathy and Cerebellar Atrophy Resulting From Compound Heterozygous CACNA2D2 Variants

Case Reports in Genetics

English

Heterozygous RFX6 Protein Truncating Variants Are Associated With MODY With Reduced Penetrance

Nature Communications

Molecular Biology

English

Genetic Variants in SCN5A Promoter Are Associated With Arrhythmia Phenotype Severity in Patients With Heterozygous Loss-Of-Function Mutation

Cardiovascular Medicine

English

Biallelic ERBB3 Loss-Of-Function Variants Are Associated With a Novel Multisystem Syndrome Without Congenital Contracture

Orphanet Journal of Rare Diseases

English

Failure to Thrive and Nephrolithiasis in a Boy With Congenital Cyanotic Heart Anomaly—questions

Pediatric Nephrology

English

Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay

Genetics in Medicine

English

Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A

npj Genomic Medicine

Molecular Biology

English

Ethylmalonic Encephalopathy Associated With Respiratory Failure

Eastern Journal of Medicine

English

Biallelic VARS Variants Cause Developmental Encephalopathy With Microcephaly That Is Recapitulated in Vars Knockout Zebrafish

Nature Communications

Molecular Biology

English