N. Boczek

发表

LSINCT5 is over expressed in breast and ovarian cancer and affects cellular proliferation

David I. Smith, Jessica M. Silva, N. Boczek, 2011, RNA biology.

Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients

Tammy M. McAllister, P. Blackburn, D. Babovic‐Vuksanovic, 2017, Molecular genetics & genomic medicine.

Molecular and Functional Characterization of a Novel Pathogenic Substrate for Autosomal Dominant Long QT Syndrome Discovered by Whole Exome Sequencing, Genomic Triangulation, and Systems Biology

D. Tester, M. Ackerman, T. Kamp, 2012 .

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

Alex Chapin, Margaret Kenna, Heidi L Rehm, 2018, bioRxiv.

SCORE imaging: specimen in a corrected optical rotational enclosure.

Andrew M. Petzold, Andrew M Petzold, D. Balciunas, 2010, Zebrafish.

Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site.

E. Kaufman, C. January, E. Behr, 2019, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

H. Rehm, H. Kremer, K. Avraham, 2018, bioRxiv.

Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies

Gavin R. Oliver, E. Wieben, K. Clark, 2018, Journal of Clinical Immunology.

Developmental delay and failure to thrive associated with a loss‐of‐function variant in WHSC1 (NSD2)

E. Thorland, Z. Niu, M. Ferber, 2018, American journal of medical genetics. Part A.

Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death

Michael J. Ackerman, J. Martijn Bos, Fang Jin, 2015, Circulation. Arrhythmia and electrophysiology.

The molecular autopsy: an indispensable step following sudden cardiac death in the young?

D. Tester, M. Ackerman, N. Boczek, 2012, Herzschrittmachertherapie & Elektrophysiologie.

Exome Sequencing and Systems Biology Converge to Identify Novel Mutations in the L-Type Calcium Channel, CACNA1C, Linked to Autosomal Dominant Long QT Syndrome

Michael J. Ackerman, Sumit Middha, Jared M. Evans, 2013, Circulation. Cardiovascular genetics.

Stressing zebrafish for behavioral genetics

S. Ekker, K. Clark, N. Boczek, 2011, Reviews in the neurosciences.

Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing

P. Blackburn, E. Klee, Kristin E Clift, 2016, Prion.

Best practices for the interpretation and reporting of clinical whole genome sequencing

David R. Murdock, Denise L. Perry, V. Jobanputra, 2022, NPJ genomic medicine.

P2T2: Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants

Michael T. Zimmermann, Gavin R. Oliver, Roman M. Ženka, 2021, JAMIA open.

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

P. Blackburn, D. Babovic‐Vuksanovic, B. Lanpher, 2017, Molecular genetics and metabolism reports.

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.

J. Parisi, F. Alkuraya, N. McDonnell, 2018, American journal of human genetics.

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic

Michael T. Zimmermann, M. Patterson, M. Zimmermann, 2016, Clinical case reports.

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?

P. Blackburn, D. Babovic‐Vuksanovic, G. Lomberk, 2018, Cold Spring Harbor molecular case studies.

Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders.

E. Thorland, H. Kearney, Shawn McClelland, 2023, The Journal of molecular diagnostics : JMD.

Impact of integrated translational research on clinical exome sequencing

Michael T. Zimmermann, Gavin R. Oliver, Tammy M. McAllister, 2020, Genetics in Medicine.

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding*

Michael T. Zimmermann, Gavin R. Oliver, M. Zimmermann, 2017, The Journal of Biological Chemistry.

Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current.

M. Ackerman, N. Boczek, Jeffrey J. Kim, 2016, International journal of cardiology.

De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus

E. Wirrell, M. Patterson, D. Babovic‐Vuksanovic, 2018, Journal of child neurology.

Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome–Associated Calmodulin Missense Variant, E141G

Christopher N. Johnson, D. Tester, W. Chazin, 2016, Circulation. Cardiovascular genetics.

Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks

Christopher N. Johnson, D. Tester, M. Ackerman, 2016, Circulation. Arrhythmia and electrophysiology.

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Andrew R. Grant, Marina T. DiStefano, I. Krantz, 2021, Genetics in Medicine.

A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome

Michael J Ackerman, Deborah DiSilvestre, D. Tester, 2017, Circulation research.