Alcama mediates Edn1 signaling during zebrafish cartilage morphogenesis

af Choudhry, Priya, Joshi, Deepa, Funke, Birgit, Trede, Nikolaus
Udgivet 2010

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

af Rehm, Heidi L., Hynes, Elizabeth, Funke, Birgit H.
Udgivet i J Pers Med (2016)

Dilated Cardiomyopathy

af Lakdawala, Neal K., Winterfield, Jeffery R., Funke, Birgit H.
Udgivet 2012

Targeted Sequencing Using Affymetrix CustomSeq Arrays

af Teekakirikul, Polakit, Cox, Stephanie, Funke, Birgit, Rehm, Heidi L.
Udgivet i Curr Protoc Hum Genet (2011)

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

af Ceyhan-Birsoy, Ozge, Miatkowski, Maya M, Hynes, Elizabeth, Funke, Birgit H, Mason-Suares, Heather
Udgivet i Hum Mutat (2018)

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

af McLaughlin, Heather M, Kelly, Melissa A, Hawley, Pamela P, Darras, Basil T, Funke, Birgit, Picker, Jonathan
Udgivet 2013

DTNBP1 Genotype Influences Cognitive Decline in Schizophrenia

af Burdick, Katherine E., Goldberg, Terry E., Funke, Birgit, Bates, John A., Lencz, Todd, Kucherlapati, Raju, Malhotra, Anil K.
Udgivet 2006

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

af Funke, Birgit, Finn, Christine T., Plocik, Alex M., Lake, Stephen, DeRosse, Pamela, Kane, John M., Kucherlapati, Raju, Malhotra, Anil K.
Udgivet 2004

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

af Hiroi, Noboru, Zhu, Hongwen, Lee, MoonSook, Funke, Birgit, Arai, Makoto, Itokawa, Masanari, Kucherlapati, Raju, Morrow, Bernice, Sawamura, Takehito, Agatsuma, Soh
Udgivet 2005

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

af Man, Elim, Lafferty, Katherine A, Funke, Birgit H, Lun, Kin-Shing, Chan, Shu-Yan, Chau, Adolphus Kai-Tung, Chung, Brian Hon-Yin
Udgivet 2013

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

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

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

af Lencz Todd, Lake Stephen L, Plocik Alex M, Finn Christine T, Malhotra Anil K, Funke Birgit, DeRosse Pamela, Kane John M, Kucherlapati Raju
Udgivet 2005-10-01

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

af Funke, Birgit, Malhotra, Anil K, Finn, Christine T, Plocik, Alex M, Lake, Stephen L, Lencz, Todd, DeRosse, Pamela, Kane, John M, Kucherlapati, Raju
Udgivet 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)

af Kates, Wendy R., Antshel, Kevin M., AbdulSabur, Nuria, Colgan, Deirdre, Funke, Birgit, Fremont, Wanda, Higgins, Anne Marie, Kucherlapati, Raju, Shprintzen, Robert J.
Udgivet 2006

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

af Vassilopoulos, Stéphane, Esk, Christopher, Hoshino, Sachiko, Funke, Birgit H., Chen, Chih-Ying, Plocik, Alex M., Wright, Woodring E., Kucherlapati, Raju, Brodsky, Frances M.
Udgivet 2009

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

af Wells, Quinn S., Ausborn, Natalie L., Funke, Birgit H, Pfotenhauer, Jean P., Fredi, Joseph L., Baxter, Samantha, DiSalvo, Thomas D., Hong, Charles C.
Udgivet 2011

Genetic Misdiagnoses and the Potential for Health Disparities

af 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.
Udgivet i 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

af 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.
Udgivet i 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

af 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.
Udgivet 1997

Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders

af 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
Udgivet 2007