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

od Kalish, Jennifer M., Deardorff, Matthew A.
Izdano u Am J Med Genet A (2016)

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

od Deardorff, Matthew A, Sainz, Jesus, Grant, Struan FA
Izdano 2011

MESP1 Mutations in Patients with Congenital Heart Defects

od Werner, Petra, Latney, Brande, Deardorff, Matthew A., Goldmuntz, Elizabeth
Izdano u Hum Mutat (2016)

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

od Deardorff, Matthew A., Porter, Nicholas J., Christianson, David W.
Izdano u Protein Sci (2016)

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

od Duffy, Kelly A., Deardorff, Matthew A., Kalish, Jennifer M.
Izdano u Am J Med Genet A (2017)

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

od Hedgepeth, Chester M., Deardorff, Matthew A., Rankin, Kathleen, Klein, Peter S.
Izdano 1999

Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen

od Ganetzky, Rebecca D., Bedoukian, Emma, Deardorff, Matthew A., Ficicioglu, Can
Izdano u JIMD Rep (2016)

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

od Hunter, Alasdair GW, Collins, Julianne S, Deardorff, Matthew A, Krantz, Ian D
Izdano 2009

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

od Li, Dong, Weber, David R, Deardorff, Matthew A, Hakonarson, Hakon, Levine, Michael A
Izdano u Eur J Hum Genet (2015)

Regulation of eye development by frizzled signaling in Xenopus

od Rasmussen, Jennifer T., Deardorff, Matthew A., Tan, Change, Rao, Mahendra S., Klein, Peter S., Vetter, Monica L.
Izdano 2001

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

od Nakanishi, Mariko, Deardorff, Matthew A., Clark, Dinah, Levy, Susan E., Krantz, Ian, Pipan, Mary
Izdano 2012

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

od Wenger, Tara L., Gerdes, Jeffrey, Taub, Katherine, Swarr, Daniel T., Deardorff, Matthew A., Abend, Nicholas S.
Izdano 2014

The Incidence of Thrombocytopenia in Children with Cornelia de Lange Syndrome

od Lambert, Michele P., Jackson, Laird G., Clark, Dinah, Kaur, Mani, Krantz, Ian D., Deardorff, Matthew A.
Izdano 2010

Neutral mitochondrial heteroplasmy and the influence of aging

od Sondheimer, Neal, Glatz, Catherine E., Tirone, Jack E., Deardorff, Matthew A., Krieger, Abba M., Hakonarson, Hakon
Izdano 2011

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

od Rothbächer, Ute, Laurent, Micheline N., Deardorff, Matthew A., Klein, Peter S., Cho, Ken W.Y., Fraser, Scott E.
Izdano 2000

IMPROVING SURVEILLANCE FOR HYPERAMMONEMIA IN THE NEWBORN

od Vergano, Samantha A., Crossette, Jonathan M., Cusick, Frederick C., Desai, Bimal R., Deardorff, Matthew A., Sondheimer, Neal
Izdano 2013

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

od Decroos, Christophe, Bowman, Christine M., Moser, Joe-Ann S., Christianson, Karen E., Deardorff, Matthew A., Christianson, David W.
Izdano 2014

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

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

Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome

od Baker, Samuel W, Duffy, Kelly A, Richards-Yutz, Jennifer, Deardorff, Matthew A, Kalish, Jennifer M, Ganguly, Arupa
Izdano u J Med Genet (2020)

ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis

od Ganetzky, Rebecca D., Bloom, Kaitlyn, Ahrens-Nicklas, Rebecca, Edmondson, Andrew, Deardorff, Matthew A., Bennett, Michael J., Ficicioglu, Can
Izdano u JIMD Rep (2016)