E. Repnikova

发表

The Role of Drosophila Cytidine Monophosphate-Sialic Acid Synthetase in the Nervous System

Michiko Nakamura, M. Zoran, V. Panin, 2013, The Journal of Neuroscience.

Phenotypic expansion and variable expressivity in individuals with JARID2‐related intellectual disability: A case series

E. Farrow, C. Saunders, I. Thiffault, 2022, Clinical genetics.

Biparental/androgenetic mosaicism in a male with features of overgrowth and placental mesenchymal dysplasia

M. Manalang, A. Kats, E. Repnikova, 2018, Clinical genetics.

Clinical and molecular characterization of novel deletions causing epsilon gamma delta beta thalassemia: Report of two cases.

Weijie Li, E. Taboada, Jennifer Roberts, 2019, Pathology, research and practice.

Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.

Neil A. Miller, Byunggil Yoo, N. Miller, 2022, Clinical chemistry.

Many clinical laboratories performing next-generation sequencing have no future plans to migrate to GRCh38

Lei Zhang, Midhat S. Farooqi, Byunggil Yoo, 2021 .

Diagnostic yield of genetic testing in 324 infants with hypotonia

J. Noel-MacDonnell, Sonal Sharma, E. Repnikova, 2021, Clinical genetics.

Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations

H. Welsh, Jennifer Roberts, L. Cooley, 2018, American journal of medical genetics. Part A.

Microarray comparative genomic hybridization and cytogenetic characterization of tissue‐specific mosaicism in three patients

J. Gastier-Foster, T. Slavin, R. Pyatt, 2012, American journal of medical genetics. Part A.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

J. Rosenfeld, S. Schwartz, L. Shaffer, 2013, European Journal of Human Genetics.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

J. Rosenfeld, B. V. van Bon, M. Fichera, 2011, American journal of human genetics.

The twisted Gene Encodes Drosophila Protein O-Mannosyltransferase 2 and Genetically Interacts With the rotated abdomen Gene Encoding Drosophila Protein O-Mannosyltransferase 1

K. Koles, V. Panin, Laura C Van Wechel, 2006, Genetics.

Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles

E. Schadt, M. R. Botton, S. Scott, 2019, Human mutation.

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

R. Pyatt, G. Herman, Emily Hansen-Kiss, 2019, European journal of medical genetics.

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

Neil A. Miller, E. Farrow, C. Saunders, 2018, BMC Medical Genetics.

Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly

A. Toutain, Kilannin Krysiak, B. Gilbert-Dussardier, 2021, Clinical genetics.

Next-Generation Sequencing in the Diagnosis of Rare Pediatric Sinonasal Tumors

Atif A Ahmed, L. Paulson, M. Hetherington, 2019, Ear, nose, & throat journal.

Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.

J. Rosenfeld, L. Shaffer, J. Gastier-Foster, 2013, Forensic science international. Genetics.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

E. Zackai, H. Hakonarson, C. Saunders, 2019, European journal of medical genetics.

L. Feuk, B. V. van Bon, R. Pfundt, 2021, Genetics in Medicine.

Role of Sialylation in the Nervous System Development of Drosophila melanogaster

E. Repnikova, 2010 .

Sialylation in protostomes: a perspective from Drosophila genetics and biochemistry

K. Koles, V. Panin, E. Repnikova, 2009, Glycoconjugate Journal.

Factors affecting migration to GRCh38 in laboratories performing clinical next-generation sequencing.

Neil A. Miller, E. Farrow, C. Saunders, 2021, The Journal of molecular diagnostics : JMD.

Integrated genetic profiling of archival pediatric high-grade glial tumors and reassessment with 2021 WHO classification of paediatric CNS tumours.

Scott C. Smith, Lisa A. Lansdon, John C. Herriges, 2023, Cancer genetics.

Study of crystal perfection in the KCl-KBr and KCl-RbCl systems

E. Repnikova, 2001 .

Application of 2016 WHO classification in the diagnosis of paediatric high-grade MYC-negative mature B-cell lymphoma with Burkitt-like morphological features

Laura E. Brown, M. Gener, Weijie Li, 2020, Journal of Clinical Pathology.

Sialyltransferase Regulates Nervous System Function in Drosophila

Michiko Nakamura, M. Zoran, J. Pitts, 2010, The Journal of Neuroscience.

Microporosity of Dense Anodic Al2O3 Films

A. Yakovlev, E. Repnikova, N. Yakovleva, 2003 .

Expanding the phenotype of feingold syndrome‐2

L. Grote, E. Repnikova, S. Amudhavalli, 2015, American journal of medical genetics. Part A.