Birgit Funke
机构: Associate Professor of Genetics and Genomic Sciences
每年引用次数
引用次数
引用: 13,903
H-指数: 54
I10-指数 : 91
出版物: 181
Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11.
Birgit Funke , Raj K. Pandita , Bernice E. Morrow
Genomics 73 ( 3) 264 -271
14
2001
Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation
Silvia E. Racedo , Donna M. McDonald-McGinn , Jonathan H. Chung , Elizabeth Goldmuntz
American Journal of Human Genetics 96 ( 2) 235 -244
34
2015
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.
Nicola Whiffin , Angharad M. Roberts , Eric Minikel , Zach Zappala
American Journal of Human Genetics 104 ( 1) 187 -190
9
2019
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network
Hana Zouk , Eric Venner , Niall J Lennon , Donna M Muzny
The American Journal of Human Genetics 105 ( 3) 588 -605
84
2019
Targeted Hybrid Capture for Inherited Disease Panels
Sami S. Amr , Birgit Funke
Clinical Genomics 251 -269
2015
Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories
Avni Santani , Birgitte B. Simen , Marian Briggs , Matthew Lebo
The Journal of Molecular Diagnostics 21 ( 3) 369 -374
9
2019
Design and Reporting Considerations for Genetic Screening Tests
Jill Hagenkord , Birgit Funke , Emily Qian , Madhuri Hegde
The Journal of Molecular Diagnostics 22 ( 5) 599 -609
4
2020
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.
Heather M McLaughlin , Melissa A Kelly , Pamela P Hawley , Basil T Darras
BMC Medical Genetics 14 ( 1) 68 -68
17
2013
Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.
Tova Hershkovitz , Alina Kurolap , Noa Ruhrman‐Shahar , Daniel Monakier
American Journal of Medical Genetics Part A 179 ( 3) 365 -372
4
2019
A gender-moderated effect of a functionalCOMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 deletion syndrome)
Wendy R. Kates , Kevin M. Antshel , Nuria AbdulSabur , Deirdre Colgan
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 141B ( 3) 274 -280
76
2006
The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers
Heidi Rehm , Elizabeth Hynes , Birgit Funke
Journal of Personalized Medicine 6 ( 1) 8
13
2016
COMT genotype increases risk for bipolar I disorder and influences neurocognitive performance
Katherine E Burdick , Birgit Funke , Joseph F Goldberg , John A Bates
Bipolar Disorders 9 ( 4) 370 -376
86
2007
COMT genetic variation confers risk for psychotic and affective disorders: a case control study
Birgit Funke , Anil K Malhotra , Christine T Finn , Alex M Plocik
Behavioral and Brain Functions 1 ( 1) 19 -19
120
2005
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy
Francesco Mazzarotto , Upasana Tayal , Rachel J. Buchan , William Midwinter
Circulation 141 ( 5) 387 -398
41
2020
Murine protein which binds preferentially to oligo-C-rich single-stranded nucleic acids
Martin Goller , Birgit Funke , Claudia Gehe-Becker , Burkhard Kröger
Nucleic Acids Research 22 ( 10) 1885 -1889
15
1994
Dysbindin Genotype and Negative Symptoms in Schizophrenia
Pamela DeRosse , Birgit Funke , Katherine E. Burdick , Todd Lencz
American Journal of Psychiatry 163 ( 3) 532 -534
104
2006
Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.
Ozlem Senol-Cosar , Ryan J. Schmidt , Emily Qian , Derick Hoskinson
Genetics in Medicine 21 ( 12) 2765 -2773
6
2019
Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Lora Bean , Birgit Funke , Colleen M Carlston , Jennifer L Gannon
Genetics in Medicine 22 ( 3) 453 -461
67
2020
121 Re-evaluating the genetic contribution of monogenic dilated cardiomyopathy
Francesco Mazzarotto , Paz Tayal , Rachel Buchan , William Midwinter
Heart 105
1
2019
COMT genotype and manic symptoms in schizophrenia.
Pamela DeRosse , Birgit Funke , Katherine E. Burdick , Todd Lencz
Schizophrenia Research 87 ( 1) 28 -31
17
2006