Matthew A. Deardorff

Overview

Best Publications

• A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

  Marjorie J Lindhurst;Julie C Sapp;Jamie K. Teer;Jennifer J Johnston

  947
  Citations

• HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

  Matthew A. Deardorff;Masashige Bando;Ryuichiro Nakato;Erwan Watrin

  655
  Citations

• A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

  Santhosh Girirajan;Jill A. Rosenfeld;Gregory M. Cooper;Francesca Antonacci

  655
  Citations

• Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

  Matthew A. Deardorff;Matthew A. Deardorff;Maninder Kaur;Dinah Yaeger;Abhinav Rampuria

  606
  Citations

• Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

  Laura K. Conlin;Brian D. Thiel;Carsten G. Bonnemann;Livija Medne

  488
  Citations

• Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

  Antonie D. Kline;Joanna F. Moss;Angelo Selicorni;Anne Marie Bisgaard

  371
  Citations

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

  Ute Rothbächer;Micheline N. Laurent;Matthew A. Deardorff;Peter S. Klein

  353
  Citations

• Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

  Rong Chen;Lisong Shi;Jörg Hakenberg;Brian Naughton

  345
  Citations

• RAD21 Mutations Cause a Human Cohesinopathy

  Matthew A. Deardorff;Matthew A. Deardorff;Jonathan J. Wilde;Melanie Albrecht;Emma Dickinson

  318
  Citations

• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

  Claire Redin;Claire Redin;Harrison Brand;Harrison Brand;Ryan L Collins;Ryan L Collins;Tammy Kammin

  295
  Citations

• Transcriptional dysregulation in NIPBL and cohesin mutant human cells.

  Jinglan Liu;Zhe Zhang;Masashige Bando;Takehiko Itoh

  274
  Citations

• Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

  Jeroen K.J. Van Houdt;Beata Anna Nowakowska;Sérgio B. Sousa;Sérgio B. Sousa;Barbera D.C. Van Schaik

  255
  Citations

• Frizzled 8 is expressed in the Spemann organizer and plays a role in early morphogenesis

  Matthew A. Deardorff;Change Tan;Leslee J. Conrad;Peter S. Klein

  194
  Citations

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

  Chester M. Hedgepeth;Matthew A. Deardorff;Kathleen Rankin;Peter S. Klein

  193
  Citations

• De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

  Sébastien Küry;Geeske M van Woerden;Thomas Besnard;Martina Proietti Onori

  190
  Citations

• A role for frizzled 3 in neural crest development.

  Matthew A. Deardorff;Change Tan;Jean-Pierre Saint-Jeannet;Peter S. Klein;Peter S. Klein

  180
  Citations

• Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

  Frank J. Kaiser;Morad Ansari;Diana Braunholz;María Concepción Gil-Rodríguez;María Concepción Gil-Rodríguez

  179
  Citations

• Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

  Robert C. Green;Robert C. Green;Katrina A.B. Goddard;Gail P. Jarvik;Laura M. Amendola

  177
  Citations

• Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

  Akemi J. Tanaka;Megan T. Cho;Francisca Millan;Jane Juusola

  167
  Citations

• Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

  Erfan Aref-Eshghi;Erfan Aref-Eshghi;Eric G. Bend;Samantha Colaiacovo;Michelle Caudle

  157
  Citations