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
DTNBP1 genotype influences cognitive decline in schizophrenia
Katherine E. Burdick , Terry E. Goldberg , Birgit Funke , John A. Bates
Schizophrenia Research 89 ( 1) 169 -172
105
2007
Expression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome
Joanna Maldonado-Saldivia , Birgit Funke , Raj K Pandita , Tanja Schüler
Mechanisms of Development 96 ( 1) 121 -124
14
2000
Targeted Sequencing Using Affymetrix CustomSeq Arrays
Polakit Teekakirikul , Stephanie Cox , Birgit Funke , Heidi L. Rehm
Current protocols in human genetics 69 ( 1)
8
2011
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.
Diana Mandelker , Ryan J. Schmidt , Arunkanth Ankala , Kristin McDonald Gibson
Genetics in Medicine 18 ( 12) 1282 -1289
94
2016
VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.
Trevor J. Pugh , Sami S. Amr , Mark J. Bowser , Sivakumar Gowrisankar
Genetics in Medicine 18 ( 7) 712 -719
40
2016
The genetic architecture of left ventricular non-compaction reveals both substantial overlap with other cardiomyopathies and a distinct aetiology in a subset of cases
Kathryn A. McGurk , Ben Statton , Beatrice Boschi , Francesca Girolami
medRxiv
1
2020
Best practices for benchmarking germline small-variant calls in human genomes.
Peter Krusche , , Len Trigg , Paul C. Boutros
Nature Biotechnology 37 ( 5) 555 -560
229
2019
Author Correction: Best practices for benchmarking germline small-variant calls in human genomes.
Peter Krusche , , Len Trigg , Paul C. Boutros
Nature Biotechnology 37 ( 5) 567 -567
4
2019
Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation: The Distinctive Natural History of Sarcomeric Dilated Cardiomyopathy
Neal K. Lakdawala , Lisa Dellefave , Charles S. Redwood , Elizabeth Sparks
Journal of the American College of Cardiology 55 ( 4) 320 -329
91
2010
Gene expression profile of trisomy 21 placentas: A potential approach for designing noninvasive techniques of prenatal diagnosis
Susan J. Gross , Jose C. Ferreira , Bernice Morrow , Peer Dar
American Journal of Obstetrics and Gynecology 187 ( 2) 457 -462
37
2002
Genetic variation in DTNBP1 influences general cognitive ability
Katherine E. Burdick , Todd Lencz , Birgit Funke , Christine T. Finn
Human Molecular Genetics 15 ( 10) 1563 -1568
164
2006
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus
Ahmad N. Abou Tayoun , Heather Mason-Suares , Ashley L. Frisella , Mark Bowser
Human Mutation 37 ( 1) 119 -126
23
2016
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Edgar A. Rivera‐Muñoz , Laura V. Milko , Steven M. Harrison , Danielle R. Azzariti
Human Mutation 39 ( 11) 1614 -1622
64
2018
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Megan H. Hawley , Naif Almontashiri , Leslie G. Biesecker , Natalie Berger
Human Mutation 41 ( 9) 1577 -1587
9
2020
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes
Roddy Walsh , Rachel Buchan , Alicja Wilk , Shibu John
European Heart Journal 38 ( 46) 3461 -3468
171
2017
College of American pathologists' laboratory standards for next-generation sequencing clinical tests
Debra G. B. Leonard , Jason D. Merker , Rakesh Nagarajan , Linda A. Palicki
Archives of Pathology & Laboratory Medicine 139 ( 4) 481 -493
239
2015
Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.
Avni Santani , Jill Murrell , Birgit Funke , Zhenming Yu
Archives of Pathology & Laboratory Medicine 141 ( 6) 787 -797
13
2017
Validation and implementation of whole-exome sequencing bioinformatics processes for clinical applications
Rimma Shakhbatyan , Himanshu Sharma , Ellen Tsai , Mark J. Bowser
international conference on bioinformatics 596 -597
2014
The genetic architecture of Plakophilin 2 cardiomyopathy
Annika M Dries , Anna Kirillova , Chloe M Reuter , John Garcia
Genetics in Medicine 23 ( 10) 1961 -1968
5
2021
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings
Kathryn A McGurk , Xiaolei Zhang , Pantazis Theotokis , Kate Thomson
The American Journal of Human Genetics 110 ( 9) 1482 -1495
4
2023