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

por Deardorff, Matthew A, Sainz, Jesus, Grant, Struan FA
Publicado 2011

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

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

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

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

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

por Fujiki, Katsunori, Shirahige, Katsuhiko, Kaur, Maninder, Deardorff, Matthew A., Conlin, Laura K., Krantz, Ian D., Izumi, Kosuke
Publicado 2016

Biochemical and Structural Characterization of HDAC8 Mutants Associated with Cornelia de Lange Syndrome Spectrum Disorders

por Decroos, Christophe, Christianson, Nicolas H., Gullett, Laura E., Bowman, Christine M., Christianson, Karen E., Deardorff, Matthew A., Christianson, David W.
Publicado 2015

Hematopoietic Stem Cell Transplant for the Treatment of X-MAID

por Henrickson, Sarah E., Andre-Schmutz, Isabelle, Lagresle-Peyrou, Chantal, Deardorff, Matthew A., Jyonouchi, Harumi, Neven, Benedicte, Bunin, Nancy, Heimall, Jennifer R.
Publicado 2019

Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Coincident NEMO and EDA Mutations

por Keller, Michael D., Petersen, Maureen, Ong, Peck, Church, Joseph, Risma, Kimberly, Burham, Jon, Jain, Ashish, Stiehm, E. Richard, Hanson, Eric P., Uzel, Gulbu, Deardorff, Matthew A., Orange, Jordan S.
Publicado 2011

Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy – Genotypic Overlap with Pseudoxanthoma Elasticum

por Li, Qiaoli, Brodsky, Jill L., Conlin, Laura K., Pawel, Bruce, Glatz, Andrew C., Gafni, Rachel I., Schurgers, Leon, Uitto, Jouni, Hakonarson, Hakon, Deardorff, Matthew A., Levine, Michael A.
Publicado 2013

Molecular diagnosis of somatic overgrowth conditions: A single‐center experience

por Lalonde, Emilie, Ebrahimzadeh, Jessica, Rafferty, Keith, Richards‐Yutz, Jennifer, Grant, Richard, Toorens, Erik, Marie Rosado, Jennifer, Schindewolf, Erica, Ganguly, Tapan, Kalish, Jennifer M., Deardorff, Matthew A., Ganguly, Arupa
Publicado 2019

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features

por Evans, Daniel R., Green, Jane S., Fahiminiya, Somayyeh, Majewski, Jacek, Fernandez, Bridget A., Deardorff, Matthew A., Johnson, Gordon J., Whelan, James H., Hubmacher, Dirk, Apte, Suneel S., Woods, Michael O.
Publicado 2020

The chromatin remodeler ISWI acts during Drosophila development to regulate adult sleep

por Gong, Naihua N., Dilley, Leela Chakravarti, Williams, Charlette E., Moscato, Emilia H., Szuperak, Milan, Wang, Qin, Jensen, Matthew, Girirajan, Santhosh, Tan, Tiong Yang, Deardorff, Matthew A., Li, Dong, Song, Yuanquan, Kayser, Matthew S.
Publicado 2021

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

por Liu, Yichuan, Li, Yun, March, Michael E., Kenny, Nguyen, Xu, Kexiang, Wang, Fengxiang, Guo, Yiran, Keating, Brendan, Glessner, Joseph, Li, Jiankang, Ganley, Theodore J., Zhang, Jianguo, Deardorff, Matthew A., Xu, Xun, Hakonarson, Hakon
Publicado 2015

Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

por Liu, Yichuan, Li, Yun, March, Michael E., Nguyen, Kenny, Xu, Kexiang, Wang, Fengxiang, Guo, Yiran, Keating, Brendan, Glessner, Joseph, Li, Jiankang, Ganley, Theodore J., Zhang, Jianguo, Deardorff, Matthew A., Xu, Xun, Hakonarson, Hakon
Publicado 2016

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

por Liu, Jinglan, Zhang, Zhe, Bando, Masashige, Itoh, Takehiko, Deardorff, Matthew A., Clark, Dinah, Kaur, Maninder, Tandy, Stephany, Kondoh, Tatsuro, Rappaport, Eric, Spinner, Nancy B., Vega, Hugo, Jackson, Laird G., Shirahige, Katsuhiko, Krantz, Ian D.
Publicado 2009

Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1

por Ahrens-Nicklas, Rebecca C., Umanah, George K.E., Sondheimer, Neal, Deardorff, Matthew A., Wilkens, Alisha B., Conlin, Laura K., Santani, Avni B., Nesbitt, Addie, Juulsola, Jane, Ma, Erica, Dawson, Ted M., Dawson, Valina L., Marsh, Eric D.
Publicado 2017

Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies

por Zhang, Bin, Chang, Jufang, Fu, Ming, Huang, Jie, Kashyap, Rakesh, Salavaggione, Ezequiel, Jain, Sanjay, Shashikant, Kulkarni, Deardorff, Matthew A., Uzielli, Maria L. Giovannucci, Dorsett, Dale, Beebe, David C., Jay, Patrick Y., Heuckeroth, Robert O., Krantz, Ian, Milbrandt, Jeffrey
Publicado 2009

Correction: Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies

por Zhang, Bin, Chang, Jufang, Fu, Ming, Huang, Jie, Kashyap, Rakesh, Salavaggione, Ezequiel, Jain, Sanjay, Kulkarni, Shashikant, Deardorff, Matthew A., Uzielli, Maria L. Giovannucci, Dorsett, Dale, Beebe, David C., Jay, Patrick Y., Heuckeroth, Robert O., Krantz, Ian, Milbrandt, Jeffrey
Publicado 2009

Genome-wide DNA methylation analysis in cohesin mutant human cell lines

por Liu, Jinglan, Zhang, Zhe, Bando, Masashige, Itoh, Takehiko, Deardorff, Matthew A., Li, Jennifer R., Clark, Dinah, Kaur, Maninder, Tatsuro, Kondo, Kline, Antonie D., Chang, Celia, Vega, Hugo, Jackson, Laird G., Spinner, Nancy B., Shirahige, Katsuhiko, Krantz, Ian D.
Publicado 2010

Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin

por Izumi, Kosuke, Nakato, Ryuichiro, Zhang, Zhe, Edmondson, Andrew C., Noon, Sarah, Dulik, Matthew C., Rajagopalan, Ramkakrishnan, Venditti, Charles P., Gripp, Karen, Samanich, Joy, Zackai, Elaine H., Deardorff, Matthew A., Clark, Dinah, Allen, Julian L., Dorsett, Dale, Misulovin, Ziva, Komata, Makiko, Bando, Masashige, Kaur, Maninder, Katou, Yuki, Shirahige, Katsuhiko, Krantz, Ian D.
Publicado 2015

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death

por Li, Mindy H., Abrudan, Jenica L., Dulik, Matthew C., Sasson, Ariella, Brunton, Joshua, Jayaraman, Vijayakumar, Dugan, Noreen, Haley, Danielle, Rajagopalan, Ramakrishnan, Biswas, Sawona, Sarmady, Mahdi, DeChene, Elizabeth T., Deardorff, Matthew A., Wilkens, Alisha, Noon, Sarah E., Scarano, Maria I., Santani, Avni B., White, Peter S., Pennington, Jeffrey, Conlin, Laura K., Spinner, Nancy B., Krantz, Ian D., Vetter, Victoria L.
Publicado 2015