List of works - Stephanie L. Bielas

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature

scientific article published on 29 November 2016

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

scientific article

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

scientific article

Cytoskeletal-associated proteins in the migration of cortical neurons.

scientific article published on January 2004

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.

scientific article published on 8 December 2015

Detection of nucleotide-specific CRISPR/Cas9 modified alleles using multiplex ligation detection

scientific article published on 25 August 2016

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

scientific article

Exome sequencing can improve diagnosis and alter patient management

scientific article published on June 2012

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum

scientific article

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

scientific article published on 05 July 2018

Histone H2A Monoubiquitination in Neurodevelopmental Disorders.

scientific article published on 29 June 2017

Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

scientific article published on 12 July 2017

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C

scientific article published on 08 June 2016

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.

scientific article published on 9 March 2017

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

scientific article published on 30 March 2017

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3.

scientific article published on 7 March 2017

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

scientific article

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

scientific article

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

scientific article

Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulation

scientific article

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

scientific article

Spinophilin facilitates dephosphorylation of doublecortin by PP1 to mediate microtubule bundling at the axonal wrist.

scientific article

List of works by Stephanie L. Bielas

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Cytoskeletal-associated proteins in the migration of cortical neurons.

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.

Detection of nucleotide-specific CRISPR/Cas9 modified alleles using multiplex ligation detection

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

Exome sequencing can improve diagnosis and alter patient management

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

Histone H2A Monoubiquitination in Neurodevelopmental Disorders.

Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3.

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulation

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

Spinophilin facilitates dephosphorylation of doublecortin by PP1 to mediate microtubule bundling at the axonal wrist.