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
Evaluating Hypertrophic Cardiomyopathy Disease-Gene Associations Using the Clinical Genome Resource (ClinGen) Gene Curation Framework
J Ingles , Jennifer Goldstein , C Caleshu , Edward Corty
Circulation 136
2017
Creation of an expert curated variant list for clinical genomic test development and validation: A ClinGen and GeT-RM collaborative project
Emma Wilcox , Steven M Harrison , Edward Lockhart , Karl Voelkerding
The Journal of Molecular Diagnostics 23 ( 11) 1500 -1505
3
2021
Genetic variation influences cognitive decline in schizophrenia
Katherine E Burdick , Terry E Goldberg , Birgit Funke , John A Bates
NEUROPSYCHOPHARMACOLOGY 31 S179 -S180
2006
COMT and manic symptoms in schizophrenia
Pamela DeRosse , Birgit Funke , Katherine Burdick , Todd Lencz
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 141 ( 7) 750 -750
2006
A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute
Marco L Leung , Jianling Ji , Samuel Baker , Jillian G Buchan
The Journal of Molecular Diagnostics 24 ( 2) 177 -188
5
2022
Regional variation in RBM20 causes a highly penetrant arrhythmogenic cardiomyopathy
Victoria N Parikh , Colleen Caleshu , Chloe Reuter , Laura Lazzeroni
Circulation 138 ( Suppl_1) A15240 -A15240
1
2018
Variant Subtype and Regionality Aid Assessment of Pathogenicity in Plakophillin-2 (PKP2)
Annika Dries , Anna Kirillova , Chloe Reuter , Hana Zouk
Circulation 142 ( Suppl_3) A15382 -A15382
2020
Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects
Birgit Funke , JonathanA Epstein , LazarosK Kochilas , MinMin Lu
Human Molecular Genetics 10 ( 22) 2549 -2556
75
2001
A Common Molecular Basis for Rearrangement Disorders on Chromosome 22q11
Lisa Edelmann , Raj K Pandita , Elizabeth Spiteri , Birgit Funke
Human Molecular Genetics 8 ( 7) 1157 -1167
379
1999
GENERAL OBSTETRICS AND GYNECOLOGY-Fetus-Placenta-Newborn-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
2002
Silvia E. Racedo, Donna M. McDonald-McGinn, 2 Jonathan H. Chung, Elizabeth Goldmuntz, 3
Elaine Zackai , Beverly S Emanuel , Bin Zhou , Birgit Funke
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Honey V Reddi , Hannah Wand , Birgit Funke , Michael T Zimmermann
Genetics in Medicine 25 ( 5) 100804 -100804
11
2023
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: a survey of LGG Fellowship Program Directors
Joshua L Deignan , Vimla Aggarwal , Allen E Bale , Daniel B Bellissimo
Genetics in Medicine Open 101820 -101820
2024
Elective genomic testing: Practice resource of the National Society of Genetic Counselors
Carrie L Blout Zawatsky , David Bick , Louise Bier , Birgit Funke
Journal of Genetic Counseling 32 ( 2) 281 -299
4
2023
Industrial product-service systems (IPS 2) Paradigm shift by mutually determined products and services
Horst Meier , Oliver Völker , Birgit Funke
The International Journal of Advanced Manufacturing Technology 52 1175 -1191
217
2011
The Mouse Poly (C)-Binding Protein Exists in Multiple Isoforms and Interacts with Several RNA-Binding Proteins
Birgit Funke , Brigitte Zuleger , Ricardo Benavente , Tillman Schuster
Nucleic Acids Research 24 ( 19) 3821 -3828
41
1996
Adaptive Planungsmethode zur Terminierung der Erbringungsprozesse hybrider Leistungsbündel
Birgit Funke
Shaker
10
2012
Planungsmethoden für den Betrieb hybrider Leistungsbündel
Horst Meier , Birgit Funke
Integrierte Industrielle Sach-und Dienstleistungen: Vermarktung, Entwicklung und Erbringung hybrider Leistungsbündel 163 -190
8
2012
Pathogenicity of hypertrophic cardiomyopathy variants: a path forward together
Jodie Ingles , Charlotte Burns , Birgit Funke
Circulation: Cardiovascular Genetics 10 ( 5) e001916 -e001916
7
2017
Implementation, evolution, and laboratory performance of methods-based proficiency testing for next-generation sequencing detection of germline sequence variants
Karen D Tsuchiya , Birgit Funke , Madhuri Hegde , Avni Santani
Archives of Pathology & Laboratory Medicine 148 ( 7) 775 -783
1
2024