Publications by authors named "Stephanie L Bielas"

24Publications

Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.

Clin Dysmorphol 2020 Jul;29(3):127-131

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000327DOI Listing
July 2020

Modeling Bainbridge-Ropers Syndrome in Embryos.

Front Physiol 2020 18;11:75. Epub 2020 Feb 18.

Department of Biochemistry, Faculty of Medicine, The Rappaport Family Institute for Research in the Medical Sciences, Technion - Israel Institute of Technology, Haifa, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fphys.2020.00075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040374PMC
February 2020

Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome.

Eur J Med Genet 2019 Jun 22;62(6):103528. Epub 2018 Aug 22.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183027
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386622PMC
June 2019

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.

Eur J Hum Genet 2018 11 5;26(11):1582-1587. Epub 2018 Jul 5.

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-018-0209-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189076PMC
November 2018

Histone H2A Monoubiquitination in Neurodevelopmental Disorders.

Trends Genet 2017 08 29;33(8):566-578. Epub 2017 Jun 29.

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA; Cell and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tig.2017.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5562288PMC
August 2017

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

J Med Genet 2017 06 9;54(6):399-403. Epub 2017 Mar 9.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2016-104237DOI Listing
June 2017

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

Am J Hum Genet 2016 Aug 21;99(2):501-10. Epub 2016 Jul 21.

Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA. Electronic address:

View Article

Download full-text PDF

Source
http://www.cell.com/ajhg/pdf/S0002-9297(16)30276-2.pdf
Web Search
http://www.cell.com/cms/attachment/2062243761/2063920621/mmc
Web Search
http://dx.doi.org/10.1016/j.ajhg.2016.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974110PMC
August 2016

Cytoskeletal-associated proteins in the migration of cortical neurons.

J Neurobiol 2004 Jan;58(1):149-59

Neurobiology Section, Division of Biological Sciences, University of California, San Diego, La Jolla, California 92093, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/neu.10280DOI Listing
January 2004