Alcama mediates Edn1 signaling during zebrafish cartilage morphogenesis

بواسطة Choudhry, Priya, Joshi, Deepa, Funke, Birgit, Trede, Nikolaus
منشور في 2010

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

بواسطة Rehm, Heidi L., Hynes, Elizabeth, Funke, Birgit H.
الحاوية / القاعدة J Pers Med (2016)

Dilated Cardiomyopathy

بواسطة Lakdawala, Neal K., Winterfield, Jeffery R., Funke, Birgit H.
منشور في 2012

Targeted Sequencing Using Affymetrix CustomSeq Arrays

بواسطة Teekakirikul, Polakit, Cox, Stephanie, Funke, Birgit, Rehm, Heidi L.
الحاوية / القاعدة Curr Protoc Hum Genet (2011)

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

بواسطة Ceyhan-Birsoy, Ozge, Miatkowski, Maya M, Hynes, Elizabeth, Funke, Birgit H, Mason-Suares, Heather
الحاوية / القاعدة Hum Mutat (2018)

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

بواسطة McLaughlin, Heather M, Kelly, Melissa A, Hawley, Pamela P, Darras, Basil T, Funke, Birgit, Picker, Jonathan
منشور في 2013

DTNBP1 Genotype Influences Cognitive Decline in Schizophrenia

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Genetic Misdiagnoses and the Potential for Health Disparities

بواسطة 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.
الحاوية / القاعدة 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

بواسطة 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.
الحاوية / القاعدة 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

بواسطة 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.
منشور في 1997

Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders

بواسطة 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
منشور في 2007