Alcama mediates Edn1 signaling during zebrafish cartilage morphogenesis

著者: Choudhry, Priya, Joshi, Deepa, Funke, Birgit, Trede, Nikolaus
出版事項 2010

The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers

著者: Rehm, Heidi L., Hynes, Elizabeth, Funke, Birgit H.
出版年 J Pers Med (2016)

Dilated Cardiomyopathy

著者: Lakdawala, Neal K., Winterfield, Jeffery R., Funke, Birgit H.
出版事項 2012

Targeted Sequencing Using Affymetrix CustomSeq Arrays

著者: Teekakirikul, Polakit, Cox, Stephanie, Funke, Birgit, Rehm, Heidi L.
出版年 Curr Protoc Hum Genet (2011)

NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes

著者: Ceyhan-Birsoy, Ozge, Miatkowski, Maya M, Hynes, Elizabeth, Funke, Birgit H, Mason-Suares, Heather
出版年 Hum Mutat (2018)

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy

著者: McLaughlin, Heather M, Kelly, Melissa A, Hawley, Pamela P, Darras, Basil T, Funke, Birgit, Picker, Jonathan
出版事項 2013

DTNBP1 Genotype Influences Cognitive Decline in Schizophrenia

著者: Burdick, Katherine E., Goldberg, Terry E., Funke, Birgit, Bates, John A., Lencz, Todd, Kucherlapati, Raju, Malhotra, Anil K.
出版事項 2006

Association of the DTNBP1 Locus with Schizophrenia in a U.S. Population

著者: Funke, Birgit, Finn, Christine T., Plocik, Alex M., Lake, Stephen, DeRosse, Pamela, Kane, John M., Kucherlapati, Raju, Malhotra, Anil K.
出版事項 2004

A 200-kb region of human chromosome 22q11.2 confers antipsychotic-responsive behavioral abnormalities in mice

著者: Hiroi, Noboru, Zhu, Hongwen, Lee, MoonSook, Funke, Birgit, Arai, Makoto, Itokawa, Masanari, Kucherlapati, Raju, Morrow, Bernice, Sawamura, Takehito, Agatsuma, Soh
出版事項 2005

NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy

著者: Man, Elim, Lafferty, Katherine A, Funke, Birgit H, Lun, Kin-Shing, Chan, Shu-Yan, Chau, Adolphus Kai-Tung, Chung, Brian Hon-Yin
出版事項 2013

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data

著者: Pugh, Trevor J., Amr, Sami S., Bowser, Mark J., Gowrisankar, Sivakumar, Hynes, Elizabeth, Mahanta, Lisa M., Rehm, Heidi L., Funke, Birgit, Lebo, Matthew S.
出版年 Genet Med (2016)

COMT genetic variation confers risk for psychotic and affective disorders: a case control study

著者: Lencz Todd, Lake Stephen L, Plocik Alex M, Finn Christine T, Malhotra Anil K, Funke Birgit, DeRosse Pamela, Kane John M, Kucherlapati Raju
出版事項 2005-10-01

COMT genetic variation confers risk for psychotic and affective disorders: a case control study

著者: Funke, Birgit, Malhotra, Anil K, Finn, Christine T, Plocik, Alex M, Lake, Stephen L, Lencz, Todd, DeRosse, Pamela, Kane, John M, Kucherlapati, Raju
出版事項 2005

A Gender-Moderated Effect of a Functional COMT Polymorphism on Prefrontal Brain Morphology and Function in Velo-cardio-facial Syndrome (22q11.2 Deletion Syndrome)

著者: Kates, Wendy R., Antshel, Kevin M., AbdulSabur, Nuria, Colgan, Deirdre, Funke, Birgit, Fremont, Wanda, Higgins, Anne Marie, Kucherlapati, Raju, Shprintzen, Robert J.
出版事項 2006

A Role for the CHC22 Clathrin Heavy Chain Isoform in Human Glucose Metabolism

著者: Vassilopoulos, Stéphane, Esk, Christopher, Hoshino, Sachiko, Funke, Birgit H., Chen, Chih-Ying, Plocik, Alex M., Wright, Woodring E., Kucherlapati, Raju, Brodsky, Frances M.
出版事項 2009

Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant

著者: Wells, Quinn S., Ausborn, Natalie L., Funke, Birgit H, Pfotenhauer, Jean P., Fredi, Joseph L., Baxter, Samantha, DiSalvo, Thomas D., Hong, Charles C.
出版事項 2011

Genetic Misdiagnoses and the Potential for Health Disparities

著者: Manrai, Arjun K., Funke, Birgit H., Rehm, Heidi L., Olesen, Morten S., Maron, Bradley A., Szolovits, Peter, Margulies, David M., Loscalzo, Joseph, Kohane, Isaac S.
出版年 N Engl J Med (2016)

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

著者: Ceyhan‐Birsoy, Ozge, Pugh, Trevor J., Bowser, Mark J., Hynes, Elizabeth, Frisella, Ashley L., Mahanta, Lisa M., Lebo, Matt S., Amr, Sami S., Funke, Birgit H.
出版年 Mol Genet Genomic Med (2015)

Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization

著者: Puech, Anne, Saint-Jore, Bruno, Funke, Birgit, Gilbert, Debra J., Sirotkin, Howard, Copeland, Neal G., Jenkins, Nancy A., Kucherlapati, Raju, Morrow, Bernice, Skoultchi, Arthur I.
出版事項 1997

Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders

著者: Funke, Birgit H, Lencz, Todd, Finn, Christine T, DeRosse, Pamela, Poznik, G David, Plocik, Alex M, Kane, John, Rogus, John, Malhotra, Anil K, Kucherlapati, Raju
出版事項 2007