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
Toward Proactive “Sequence-First” Risk Prediction for Inherited Cardiomyopathies
Sean J Jurgens , Birgit Funke
Heart Failure 12 ( 5) 933 -935
2024
P677: Evolving from case counts to case-controls data: Updated PS4 recommendations from ClinGen’s Cardiomyopathy Variant Curation Expert Panel
Melissa Kelly , Hana Zouk , James Ware , Birgit Funke
Genetics in Medicine Open 2
2024
Isolierung und Charakterisierung der cDNA-Varianten und des genomischen Locus des ssDNA-Bindungsproteins mCBP
Birgit Funke
Verlag nicht ermittelbar
1996
Physician-Mediated Elective Whole Genome Sequencing Tests
Emily Qian , Magalie Leduc , Rebecca Hodges , Bryan Cosca
The genetic architecture of left ventricular non-compaction reveals both substantial overlap with other cardiomyopathies and a distinct aetiology in a subset of cases
R Walsh , F Mazzarotto , M Hawley , M Beltrami
European Heart Journal 41
2020
High-resolution variant filtering empowers clinical interpretation and provides insights into variant penetrance and population-specificity
N Whiffin , E Minikel , R Walsh , A O'Donnell-Luria
EUROPEAN JOURNAL OF HUMAN GENETICS 26 97 -97
2018
VP. 04 Ryanodine receptor-related disorders
M Marttila , Ö Birsoy , V Gupta , S Amr
Neuromuscular Disorders 32 S48 -S48
2022
CONGENITAL MYOPATHIES: EP. 46 Diagnosing pathogenic mutations for congenital myopathy and cardiomyopathy patients
M Marttila , V Gupta , Ö Birsoy , S Amr
Neuromuscular Disorders 31 S63 -S63
2021
Adapting the ACMG/AMP Variant Classification Guidelines for Inherited Cardiomyopathy: A Pilot Study of ClinGen's International Expert Working Group
J Buchan , M Kelly , C Caleshu , A Morales
JOURNAL OF MOLECULAR DIAGNOSTICS 18 ( 6) 946 -946
2016
Assessment of Germline Splice Variants in Tumor Sequencing
E Bogdanova , Z Soens , A Silkov , R Chen
JOURNAL OF MOLECULAR DIAGNOSTICS 24 ( 10) S125 -S125
2022
Molecular dissection of velo-cardio-facial syndrome using mouse models.
S Merscher , R Russell , B Funke , S Factor
AM J HUM GENET 67 ( 4) 377 -377
2000
Development of Consensus Reference Material Tools for Clinical Next-Generation Sequencing Tests
D Church , B Funke , M Hegde , C Chao
JOURNAL OF MOLECULAR DIAGNOSTICS 15 ( 6) 847 -847
2013
Evidence that a DTNBP1 risk haplotype is associated with negative symptoms and cognitive dysfunction in patients with schizophrenia
KE Burdick , P DeRosse , B Funke , T Lencz
NEUROPSYCHOPHARMACOLOGY 30 S118 -S118
2005
The effect of the dysbindin risk haplotype on negative symptoms in patients with schizophrenia
P DeRosse , B Funke , KE Burdick , JM Ekholm
BIOLOGICAL PSYCHIATRY 57 ( 8) 43S -43S
2005
The positive predictive value of genetic screening tests
J Hagenkord , B Funke , E Qian , M Hegde
2019
Identification of a novel locus for hearing impairment on chromosome 22q11, a region associated with congenital anomaly disorders.
B Funke , RK Pandita , D Madnani , C Shoemaker
AMERICAN JOURNAL OF HUMAN GENETICS 67 ( 4) 13 -13
2000
Lions and Tigers and Bears, Oh My! Technically Challenging Pathogenic Variants are Prevalent and Require New Approaches to NGS Test Development and Validation
S Lincoln , R Truty , J Zook , B Funke
JOURNAL OF MOLECULAR DIAGNOSTICS 18 ( 6) 990 -990
1
2016
To Confirm or Not Confirm, That is the Question: A Rigorous Approach to Evaluating the Importance of Sanger Confirmation of NGS Findings
SE Lincoln , B Funke , J Zook , S Kulkarni
JOURNAL OF MOLECULAR DIAGNOSTICS 17 ( 6) 753 -753
2015
Comparative mapping of the human and mouse VCFS/DGS syntenic region discloses the presence of a large internal rearrangement.
AI Skoultchi , A Puech , B Saint-Jore , B Funke
AMERICAN JOURNAL OF HUMAN GENETICS 61 ( 4) A55 -A55
3
1997
Generation of mouse models to determine the molecular basis of VCFS/DGS
BE Morrow , B Funke , S Merscher , A Puech
BIOLOGICAL PSYCHIATRY 49 ( 8) 78S -79S
2001