Alcama mediates Edn1 signaling during zebrafish cartilage morphogenesis

di Choudhry, Priya, Joshi, Deepa, Funke, Birgit, Trede, Nikolaus
Pubblicazione 2010

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

di Rehm, Heidi L., Hynes, Elizabeth, Funke, Birgit H.
Pubblicato in J Pers Med (2016)

Dilated Cardiomyopathy

di Lakdawala, Neal K., Winterfield, Jeffery R., Funke, Birgit H.
Pubblicazione 2012

Targeted Sequencing Using Affymetrix CustomSeq Arrays

di Teekakirikul, Polakit, Cox, Stephanie, Funke, Birgit, Rehm, Heidi L.
Pubblicato in Curr Protoc Hum Genet (2011)

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

di Ceyhan-Birsoy, Ozge, Miatkowski, Maya M, Hynes, Elizabeth, Funke, Birgit H, Mason-Suares, Heather
Pubblicato in Hum Mutat (2018)

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

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

DTNBP1 Genotype Influences Cognitive Decline in Schizophrenia

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Genetic Misdiagnoses and the Potential for Health Disparities

di 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.
Pubblicato in 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

di 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.
Pubblicato in 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

di 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.
Pubblicazione 1997

Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders

di 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
Pubblicazione 2007