Tumor Screening in Beckwith-Wiedemann Syndrome – To Screen or Not to Screen?

Yazar: Kalish, Jennifer M., Deardorff, Matthew A.
Yayımlandı Am J Med Genet A (2016)

Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion

Yazar: Deardorff, Matthew A, Sainz, Jesus, Grant, Struan FA
Baskı/Yayın Bilgisi 2011

MESP1 Mutations in Patients with Congenital Heart Defects

Yazar: Werner, Petra, Latney, Brande, Deardorff, Matthew A., Goldmuntz, Elizabeth
Yayımlandı Hum Mutat (2016)

Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders

Yazar: Deardorff, Matthew A., Porter, Nicholas J., Christianson, David W.
Yayımlandı Protein Sci (2016)

The Utility of Alpha-Fetoprotein Screening in Beckwith-Wiedemann Syndrome

Yazar: Duffy, Kelly A., Deardorff, Matthew A., Kalish, Jennifer M.
Yayımlandı Am J Med Genet A (2017)

Regulation of Glycogen Synthase Kinase 3β and Downstream Wnt Signaling by Axin

Yazar: Hedgepeth, Chester M., Deardorff, Matthew A., Rankin, Kathleen, Klein, Peter S.
Baskı/Yayın Bilgisi 1999

Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen

Yazar: Ganetzky, Rebecca D., Bedoukian, Emma, Deardorff, Matthew A., Ficicioglu, Can
Yayımlandı JIMD Rep (2016)

Detailed Assessment of the Ear in Cornelia de Lange Syndrome: Comparison with a Control Sample Using the New Dysmorphology Guidelines

Yazar: Hunter, Alasdair GW, Collins, Julianne S, Deardorff, Matthew A, Krantz, Ian D
Baskı/Yayın Bilgisi 2009

Immunologic Features of Cornelia de Lange Syndrome

Yazar: Jyonouchi, Soma, Orange, Jordan, Sullivan, Kathleen E., Krantz, Ian, Deardorff, Matthew
Baskı/Yayın Bilgisi 2013

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia

Yazar: Li, Dong, Weber, David R, Deardorff, Matthew A, Hakonarson, Hakon, Levine, Michael A
Yayımlandı Eur J Hum Genet (2015)

Regulation of eye development by frizzled signaling in Xenopus

Yazar: Rasmussen, Jennifer T., Deardorff, Matthew A., Tan, Change, Rao, Mahendra S., Klein, Peter S., Vetter, Monica L.
Baskı/Yayın Bilgisi 2001

Investigation of Autistic Features Among Individuals With Mild to Moderate Cornelia de Lange Syndrome

Yazar: Nakanishi, Mariko, Deardorff, Matthew A., Clark, Dinah, Levy, Susan E., Krantz, Ian, Pipan, Mary
Baskı/Yayın Bilgisi 2012

Telemedicine for genetic and neurologic evaluation in the Neonatal Intensive Care Unit

Yazar: Wenger, Tara L., Gerdes, Jeffrey, Taub, Katherine, Swarr, Daniel T., Deardorff, Matthew A., Abend, Nicholas S.
Baskı/Yayın Bilgisi 2014

The Incidence of Thrombocytopenia in Children with Cornelia de Lange Syndrome

Yazar: Lambert, Michele P., Jackson, Laird G., Clark, Dinah, Kaur, Mani, Krantz, Ian D., Deardorff, Matthew A.
Baskı/Yayın Bilgisi 2010

Neutral mitochondrial heteroplasmy and the influence of aging

Yazar: Sondheimer, Neal, Glatz, Catherine E., Tirone, Jack E., Deardorff, Matthew A., Krieger, Abba M., Hakonarson, Hakon
Baskı/Yayın Bilgisi 2011

Dishevelled phosphorylation, subcellular localization and multimerization regulate its role in early embryogenesis

Yazar: Rothbächer, Ute, Laurent, Micheline N., Deardorff, Matthew A., Klein, Peter S., Cho, Ken W.Y., Fraser, Scott E.
Baskı/Yayın Bilgisi 2000

IMPROVING SURVEILLANCE FOR HYPERAMMONEMIA IN THE NEWBORN

Yazar: Vergano, Samantha A., Crossette, Jonathan M., Cusick, Frederick C., Desai, Bimal R., Deardorff, Matthew A., Sondheimer, Neal
Baskı/Yayın Bilgisi 2013

Compromised Structure and Function of HDAC8 Mutants Identified in Cornelia de Lange Syndrome Spectrum Disorders

Yazar: Decroos, Christophe, Bowman, Christine M., Moser, Joe-Ann S., Christianson, Karen E., Deardorff, Matthew A., Christianson, David W.
Baskı/Yayın Bilgisi 2014

Mosaic ratio quantification of isochromosome 12p in Pallister–Killian syndrome using droplet digital PCR

Yazar: Fujiki, Katsunori, Shirahige, Katsuhiko, Kaur, Maninder, Deardorff, Matthew A., Conlin, Laura K., Krantz, Ian D., Izumi, Kosuke
Yayımlandı Mol Genet Genomic Med (2016)

Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome

Yazar: Baker, Samuel W, Duffy, Kelly A, Richards-Yutz, Jennifer, Deardorff, Matthew A, Kalish, Jennifer M, Ganguly, Arupa
Yayımlandı J Med Genet (2020)