Alcama mediates Edn1 signaling during zebrafish cartilage morphogenesis

gan Choudhry, Priya, Joshi, Deepa, Funke, Birgit, Trede, Nikolaus
Cyhoeddwyd 2010

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

gan Rehm, Heidi L., Hynes, Elizabeth, Funke, Birgit H.
Cyhoeddwyd yn J Pers Med (2016)

Dilated Cardiomyopathy

gan Lakdawala, Neal K., Winterfield, Jeffery R., Funke, Birgit H.
Cyhoeddwyd 2012

Targeted Sequencing Using Affymetrix CustomSeq Arrays

gan Teekakirikul, Polakit, Cox, Stephanie, Funke, Birgit, Rehm, Heidi L.
Cyhoeddwyd yn Curr Protoc Hum Genet (2011)

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

gan Ceyhan-Birsoy, Ozge, Miatkowski, Maya M, Hynes, Elizabeth, Funke, Birgit H, Mason-Suares, Heather
Cyhoeddwyd yn Hum Mutat (2018)

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

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

DTNBP1 Genotype Influences Cognitive Decline in Schizophrenia

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Genetic Misdiagnoses and the Potential for Health Disparities

gan 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.
Cyhoeddwyd yn 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

gan 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.
Cyhoeddwyd yn 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

gan 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.
Cyhoeddwyd 1997

Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders

gan 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
Cyhoeddwyd 2007