Skip to Main Content

Author Details

Tina Hambuch
Invitae Corporation
1995
21
14
PMIDPaper TitleJournal TitlePublished Year
36251442Scalable detection of technically challenging variants through modified next-generation sequencing.Mol Genet Genomic Med2022
34007000One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.Genet Med2021
30293986Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.Genet Med2019
30214068Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.Genet Med2019
27811861A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.Genet Med2017
28496993Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.J Pediatr Genet2017
27159321Whole exome sequencing in patients with white matter abnormalities.Ann Neurol2016
26154004Good laboratory practice for clinical next-generation sequencing informatics pipelines.Nat Biotechnol2015
24829188Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods.Hum Mutat2014
23723312Bioinformatics: what the clinical laboratorian needs to know and prepare for.Clin Chem2013
22683710BAP1 loss defines a new class of renal cell carcinoma.Nat Genet2012
23430931Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.JIMD Rep2012
23138292Assuring the quality of next-generation sequencing in clinical laboratory practice.Nat Biotechnol2012
22918138Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.J Mol Diagn2012
19092444The role of the F508C mutation in congenital bilateral absence of the vas deferens.Genet Med2008
15937136Patterns of synonymous codon usage in Drosophila melanogaster genes with sex-biased expression.Genetics2005
15282334Molecular evolution of sex-biased genes in Drosophila.Mol Biol Evol2004
15297516Population genetic analysis of Bartonella bacilliformis isolates from areas of peru where Carrion's disease is endemic and epidemic.J Clin Microbiol2004
12038542Enhanced selection for MHC diversity in social tuco-tucos.Evolution2002
7651743p53 dependent growth suppression by the c-Abl nuclear tyrosine kinase.Oncogene1995
8524841The Bcr-Abl leukemia oncogene activates Jun kinase and requires Jun for transformation.Proc Natl Acad Sci U S A1995
  • 1 - 21 of 21

Recommended Authors

Axel K??nstner
University of Lubeck
Career Start Year 2009
Number of shared co-authors 1
Aakrosh Ratan
Center for Public Health Genomics, University of Virginia
Career Start Year 2008
Number of shared co-authors 3
Charlene M Dickens
Texas A&M University, College Station
Career Start Year 2006
Number of shared co-authors 0
Praveen F Cherukuri
Sanford School of Medicine, University of South Dakota
Career Start Year 2005
Number of shared co-authors 2
Huaiyang Jiang
Magee-Womens Research Institute, University of Pittsburgh
Career Start Year 2004
Number of shared co-authors 5
Jeffrey A Rosenfeld
Cancer Institute of New Jersey
Career Start Year 2004
Number of shared co-authors 3
Christie L Kovar
Baylor College of Medicine
Career Start Year 2002
Number of shared co-authors 8
Michael C Zody
Broad Institute of Harvard and MIT
Career Start Year 2001
Number of shared co-authors 8
Kirsten McLay
Inivata Ltd.
Career Start Year 1999
Number of shared co-authors 6
Philip Awadalla
Ontario Institute for Cancer Research
Career Start Year 1997
Number of shared co-authors 0
Biao Li
The Buck Institute for Research on Aging
Career Start Year 1997
Number of shared co-authors 0
Shannon Dugan
Baylor College of Medicine
Career Start Year 1997
Number of shared co-authors 7
Niall J Lennon
Broad Institute of MIT and Harvard.
Career Start Year 1997
Number of shared co-authors 13
Sean McGrath
Harvard T.H. Chan School of Public Health
Career Start Year 1996
Number of shared co-authors 4
Carlos D Bustamante
Stanford University
Career Start Year 1995
Number of shared co-authors 13
Jared C Roach
Institute for Systems Biology
Career Start Year 1995
Number of shared co-authors 6
Lucinda Fulton
McDonnell Genome Institute, Washington University School of Medicine
Career Start Year 1994
Number of shared co-authors 10
David J Cutler
Emory University School of Medicine
Career Start Year 1994
Number of shared co-authors 7
Mark Yandell
University of Utah
Career Start Year 1994
Number of shared co-authors 10
Alejandro A Sch??ffer
National Cancer Institute, National Institutes of Health
Career Start Year 1993
Number of shared co-authors 2
David B Goldstein
Institute for Genomic Medicine, Columbia University Irving Medical Center
Career Start Year 1992
Number of shared co-authors 12
Michael E Zwick
Rutgers University-New Brunswick, Rutgers University
Career Start Year 1989
Number of shared co-authors 0
Donna M Muzny
Baylor College of Medicine
Career Start Year 1988
Number of shared co-authors 33
Gustavo Glusman
Institute for Systems Biology
Career Start Year 1988
Number of shared co-authors 8
Richard A Gibbs
Baylor College of Medicine
Career Start Year 1987
Number of shared co-authors 30
Steven E Scherer
Baylor College of Medicine
Career Start Year 1987
Number of shared co-authors 12
James C Mullikin
National Human Genome Research Institute, National Institutes of Health
Career Start Year 1985
Number of shared co-authors 16
Richard K Wilson
The Ohio State University
Career Start Year 1983
Number of shared co-authors 10
Deborah A Nickerson
University of Washington
Career Start Year 1976
Number of shared co-authors 27
Kelly A Frazer
University of California, USA Institute for Genomic Medicine
Career Start Year 1967
Number of shared co-authors 6

Collaborators

Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 4
David Bick
Genomics England Ltd.
Co-authored papers 4
Ira M Lubin
Centers for Disease Control and Prevention
Co-authored papers 3
Justin M Zook
National Institute of Standards and Technology
Co-authored papers 3
David Dimmock
Rady Children's Institute for Genomic Medicine
Co-authored papers 3
Charles L Sawyers
Memorial Sloan Kettering Cancer Center
Co-authored papers 2
Marc Salit
Stanford University
Co-authored papers 2
Elizabeth A Worthey
Heersink School of Medicine, The University of Alabama at Birmingham
Co-authored papers 2
Rebecca Truty
Invitae Corporation
Co-authored papers 2
Shashikant Kulkarni
Centene Center for Health Transformation, Centene Corporation
Co-authored papers 2
David R Bentley
Illumina Cambridge Ltd.
Co-authored papers 2
Brian H Shirts
Institute for Public Health Genetics, University of Washington
Co-authored papers 2
Matthew J Ferber
Mayo Clinic
Co-authored papers 2
Birgit Funke
Partners Healthcare Center for Personalized Genetic Medicine
Co-authored papers 2
Laura K Conlin
Children's Hospital of Philadelphia
Co-authored papers 1
Isaac S Kohane
Harvard Medical School
Co-authored papers 1
Rakesh Nagarajan
Current or past members of the College of American Pathologists
Co-authored papers 1
Mark T Ross
Illumina Cambridge Ltd.
Co-authored papers 1
Andrew M Gross
Illumina Inc.
Co-authored papers 1
Gregory J Tsongalis
Dartmouth Health and the Dartmouth Cancer Center, USA Geisel School of Medicine
Co-authored papers 1
Deanna M Church
Present address: Inscripta Inc.
Co-authored papers 1
Kevin M Bowling
Washington University School of Medicine
Co-authored papers 1
Eric W Klee
Mayo Clinic College of Medicine and Science
Co-authored papers 1
Neha Gupta
J. Craig Venter Institute
Co-authored papers 1
In-Hee Lee
Co-authored papers 1
Taemin Song
Soongsil University
Co-authored papers 1
Gail P Jarvik
University of Washington Medical Center
Co-authored papers 1
Paula E North
Co-authored papers 1
Joseph M Devaney
Co-authored papers 1
Robert C Green
Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
Co-authored papers 1
Release 1.2