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B. Funke · SciRah

Researcher profile · Semantic Scholar

B. Funke

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B. Funke — researcher profile on SciRah

h-index: 47
Works: 103
Citations: 12K

Most-cited papers

Dilated Cardiomyopathy
N. K. Lakdawala, Jeffery R. Winterfield, B. Funke
2007Archives of Disease in Childhood1,078 citations Open access
Semantic Scholar
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.
Sandra Merscher, B. Funke, J. Epstein, J. Heyer +20 more
2001Cell970 citations Open access
Semantic Scholar
ACMG clinical laboratory standards for next-generation sequencing
H. Rehm, S. Bale, P. Bayrak-Toydemir, J. Berg +6 more
2013Genetics in Medicine912 citations Open access
Semantic Scholar
Reassessment Of Mendelian Gene Pathogenicity Using 7,855 Cardiomyopathy Cases And 60,706 Reference Samples
R. Walsh, K. Thomson, J. Ware, B. Funke +12 more
2016Genetics in Medicine716 citations Open access
Semantic Scholar
Genetic Misdiagnoses and the Potential for Health Disparities
Arjun K. Manrai, B. Funke, H. Rehm, M. Olesen +5 more
2016New England Journal of Medicine697 citations Open access
Semantic Scholar
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
A. Alfares, M. Kelly, G. McDermott, B. Funke +12 more
2015Genetics in Medicine461 citations
Semantic Scholar
A common molecular basis for rearrangement disorders on chromosome 22q11.
L. Edelmann, R. Pandita, E. Spiteri, B. Funke +6 more
1999Human Molecular Genetics452 citations Open access
Semantic Scholar
Using high-resolution variant frequencies to empower clinical genome interpretation
N. Whiffin, E. Minikel, R. Walsh, A. O'Donnell-Luria +7 more
2016Genetics in Medicine428 citations Open access
Semantic Scholar
Cardiovascular Pathology in Hutchinson-Gilford Progeria: Correlation with the Vascular Pathology of Aging
M. Olive, Ingrid A. Harten, R. Mitchell, Jeanette K. Beers +14 more
2010Arteriosclerosis, Thrombosis and Vascular Biology417 citations Open access
Semantic Scholar
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes
J. Ingles, J. Goldstein, C. Thaxton, C. Caleshu +20 more
2019Circulation Genomic and Precision Medicine359 citations Open access
Semantic Scholar
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
Trevor J Pugh, M. Kelly, S. Gowrisankar, Elizabeth Hynes +12 more
2014Genetics in Medicine354 citations Open access
Semantic Scholar
College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.
N. Aziz, Qin Zhao, L. Bry, Denise K. Driscoll +13 more
2015Archives of Pathology & Laboratory Medicine345 citations
Semantic Scholar
Adaptation and Validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
M. Kelly, C. Caleshu, A. Morales, J. Buchan +24 more
2018Genetics in Medicine344 citations Open access
Semantic Scholar
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy
F. Mazzarotto, U. Tayal, R. Buchan, W. Midwinter +26 more
2020Circulation236 citations Open access
Semantic Scholar
Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era.
P. Teekakirikul, M. Kelly, H. Rehm, N. Lakdawala +1 more
2013Journal of Molecular Diagnostics224 citations Open access
Semantic Scholar
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing
D. Mandelker, Ryan J. Schmidt, Arunkanth Ankala, Kristin Gibson +7 more
2016Genetics in Medicine223 citations Open access
Semantic Scholar
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes
R. Walsh, R. Buchan, Alicja Wilk, S. John +12 more
2017European Heart Journal208 citations Open access
Semantic Scholar
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
E. A. Rivera-Munoz, L. Milko, S. Harrison, Danielle Azarriti +19 more
2018Human Mutation192 citations Open access
Semantic Scholar
Genetic variation in DTNBP1 influences general cognitive ability.
K. Burdick, T. Lencz, B. Funke, C. Finn +4 more
2006Human Molecular Genetics190 citations Open access
Semantic Scholar
Association of the DTNBP1 locus with schizophrenia in a U.S. population.
B. Funke, C. Finn, Alex Plocik, Stephen L. Lake +4 more
2004American Journal of Human Genetics175 citations Open access
Semantic Scholar
Genetic Testing for Dilated Cardiomyopathy in Clinical Practice
N. Lakdawala, B. Funke, S. Baxter, Allison L. Cirino +15 more
2012Journal of Cardiac Failure168 citations Open access
Semantic Scholar
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.
A. Bick, J. Flannick, K. Ito, Susan Cheng +20 more
2012American Journal of Human Genetics135 citations Open access
Semantic Scholar
Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Lora J. H. Bean, B. Funke, C. Carlston, J. Gannon +4 more
2019Genetics in Medicine133 citations Open access
Semantic Scholar
Regional variation in RBM20 causes a highly penetrant arrhythmogenic cardiomyopathy
V. Parikh, C. Caleshu, Chloe M. Reuter, L. Lazzeroni +26 more
2019Circulation: Heart Failure129 citations Open access
Semantic Scholar
Familial Dilated Cardiomyopathy caused by an Alpha-Tropomyosin Mutation: The Distinctive Natural History of Sarcomeric DCM
N. Lakdawala, Lisa M. Dellefave, C. Redwood, E. Sparks +11 more
2010Journal of the American College of Cardiology126 citations Open access
Semantic Scholar
A Role for the CHC22 Clathrin Heavy Chain Isoform in Human Glucose Metabolism
S. Vassilopoulos, Christopher Esk, Sachiko Hoshino, B. Funke +5 more
2009Science123 citations Open access
Semantic Scholar
DTNBP1 genotype influences cognitive decline in schizophrenia.
K. Burdick, T. Goldberg, B. Funke, J. Bates +3 more
2007Schizophrenia Research121 citations Open access
Semantic Scholar
Dysbindin genotype and negative symptoms in schizophrenia.
P. DeRosse, B. Funke, K. Burdick, T. Lencz +4 more
2006American Journal of Psychiatry121 citations
Semantic Scholar
Behavioral and Brain Functions
B. Funke, Anil K. Malhotra, C. Finn, Alex Plocik +5 more
2005106 citations
Semantic Scholar
COMT genotype increases risk for bipolar I disorder and influences neurocognitive performance.
K. Burdick, B. Funke, J. Goldberg, J. Bates +3 more
2007Bipolar Disorders101 citations
Semantic Scholar
A novel custom resequencing array for dilated cardiomyopathy
R. Zimmerman, Stephanie W Cox, N. Lakdawala, Allison L. Cirino +14 more
2010Genetics in Medicine87 citations Open access
Semantic Scholar
Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects.
B. Funke, Jonathan A. Epstein, L. Kochilas, Min M. Lu +8 more
2001Human Molecular Genetics86 citations
Semantic Scholar
Good laboratory practice for clinical next-generation sequencing informatics pipelines
Amy S. Gargis, L. Kalman, D. Bick, Cristina da Silva +36 more
2015Nature Biotechnology83 citations Open access
Semantic Scholar
Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome
J. Long, P. LaPorte, Sandra Merscher, B. Funke +6 more
2006Neurogenetics80 citations
Semantic Scholar
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.
Daniel M. Jordan, Adam Kiezun, Samantha M. Baxter, V. Agarwala +7 more
2011American Journal of Human Genetics77 citations Open access
Semantic Scholar
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies
F. Mazzarotto, Megan H. Hawley, M. Beltrami, L. Beekman +23 more
2021Genetics in Medicine70 citations Open access
Semantic Scholar
VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data
Trevor J Pugh, S. Amr, M. Bowser, S. Gowrisankar +5 more
2015Genetics in Medicine70 citations Open access
Semantic Scholar
Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.
D. Mandelker, S. Amr, Trevor J Pugh, S. Gowrisankar +8 more
2014Journal of Molecular Diagnostics67 citations Open access
Semantic Scholar
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation
A. A. Abou Tayoun, S. Al Turki, A. Oza, M. Bowser +4 more
2015Genetics in Medicine62 citations Open access
Semantic Scholar
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings
K. McGurk, Xiaolei Zhang, P. Theotokis, K. Thomson +19 more
2023American Journal of Human Genetics61 citations Open access
Semantic Scholar
Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.
S. Racedo, D. McDonald-McGinn, Jonathan H. Chung, E. Goldmuntz +5 more
2015American Journal of Human Genetics61 citations Open access
Semantic Scholar
Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice.
Go Suzuki, Kathryn M. Harper, T. Hiramoto, B. Funke +9 more
2009Human Molecular Genetics57 citations Open access
Semantic Scholar
A 200-kb region of human chromosome 22q11.2 confers antipsychotic-responsive behavioral abnormalities in mice.
N. Hiroi, Hongwen Zhu, Moonsook Lee, B. Funke +6 more
2005Proceedings of the National Academy of Sciences of the United States of America51 citations Open access
Semantic Scholar
Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications.
S. Gowrisankar, Jordan Lerner-Ellis, Stephanie W Cox, Emily T. White +7 more
2010Journal of Molecular Diagnostics49 citations Open access
Semantic Scholar
Gene expression profile of trisomy 21 placentas: a potential approach for designing noninvasive techniques of prenatal diagnosis.
S. Gross, J. Ferreira, B. Morrow, P. Dar +3 more
2002American Journal of Obstetrics and Gynecology47 citations
Semantic Scholar
Targeted Droplet‐Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus
A. A. Abou Tayoun, H. Mason-Suares, Ashley L. Frisella, M. Bowser +5 more
2016Human Mutation43 citations Open access
Semantic Scholar
LAMP2 microdeletions in patients with Danon disease
Zhao Yang, B. Funke, L. Cripe, G. Vick +9 more
2010Circulation: Cardiovascular Genetics39 citations Open access
Semantic Scholar
Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation
A. Bettinelli, T. Mulder, B. Funke, Katherine A. Lafferty +2 more
2013American Journal of Medical Genetics. Part A37 citations
Semantic Scholar
Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies
O. Ceyhan-Birsoy, Trevor J Pugh, M. Bowser, Elizabeth Hynes +5 more
2015Molecular Genetics & Genomic Medicine35 citations Open access
Semantic Scholar
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy
H. Mclaughlin, M. Kelly, P. Hawley, B. Darras +2 more
2013BMC Medical Genetics34 citations Open access
Semantic Scholar

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