G. Zapata

发表

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.

David R. Murdock, Lisa T. Emrick, Alyssa A. Tran, 2021, American journal of human genetics.

Assessment of large copy number variants in patients with apparently isolated congenital left‐sided cardiac lesions reveals clinically relevant genomic events

Mahshid S. Azamian, J. Belmont, J. Towbin, 2017, American journal of medical genetics. Part A.

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, Clinical Epigenetics.

Cells in Zebrafish Cell Development and Two Lineages of B for Distinct Larval and Adult Phases of T Lymphocyte Development : Genetic Evidence Conserved Functions of Ikaros in Vertebrate

M. Bialecki, D. Diekhoff, J. Odenthal, 2006 .

20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits

Z. Ou, P. Stankiewicz, A. C. Chinault, 2008, Journal of Medical Genetics.

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

David R. Murdock, Lisa T. Emrick, Alyssa A. Tran, 2020, bioRxiv.

Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2020, American journal of medical genetics. Part A.

Low Levels of Genetic Divergence across Geographically and Linguistically Diverse Populations from India

Noah A Rosenberg, Madhuri Hegde, J. Weber, 2006, PLoS genetics.

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

Mahshid S. Azamian, J. Lupski, S. Leal, 2016, Human molecular genetics.

+ the IL-7-Induced Development of CD34 Thymocyte Differentiation by Counteracting Sonic Hedgehog Regulates Early Human

A. Varas, R. Sacedón, Á. Vicente, 2004 .

Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.

J. Belmont, J. Towbin, S. Fernbach, 2011, Birth defects research. Part A, Clinical and molecular teratology.

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Mahshid S. Azamian, Magalie S Leduc, J. Rosenfeld, 2015, American journal of human genetics.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

Bradley P. Coe, Mahshid S. Azamian, Lisa T. Emrick, 2016, American journal of human genetics.

Integrative genomic analysis of the human immune response to influenza vaccination

Molly S Bray, Chad A Shaw, Luis M Franco, 2013, eLife.

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.

David R. Murdock, Vicente A. Yépez, J. Rosenfeld, 2020, The Journal of clinical investigation.

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.

R. Gibbs, D. Muzny, M. Bainbridge, 2018, Blood.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human molecular genetics.

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Gao T. Wang, Mahshid S. Azamian, M. Hurles, 2013, American journal of human genetics.

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

C. Depienne, F. Saudou, C. Bacino, 2020, Nature Communications.

Integrative genomic analysis of the human immune response to influenza vaccination

C. Shaw, J. Belmont, R. Couch, 2013, eLife.

Host Transcriptional Response to Influenza and Other Acute Respiratory Viral Infections – A Prospective Cohort Study

C. Shaw, J. Belmont, R. Couch, 2015, PLoS pathogens.

Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy

Mahshid S. Azamian, J. Belmont, N. Hanchard, 2019, Genetics in Medicine.

Capture-based DNA methylation sequencing facilitates diagnosis and reveals potential pathogenic mechanisms in teratogenic diabetes exposure

Mahshid S. Azamian, J. Belmont, N. Hanchard, 2017, bioRxiv.

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, Clinical Epigenetics.

"interactive" version of data associated with the eLife paper "Integrative genomic analysis of the human immune response to influenza vaccination"

C. Shaw, J. Belmont, R. Couch, 2013 .

The epigenetic response of mouse brown adipose tissue to cold stress: histone proteoform, DNA methylation, and RNA expression

N. McKenna, S. Ochsner, H. Yalamanchili, 2023, bioRxiv.

Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1

Mahshid S. Azamian, S. Lalani, I. Campbell, 2020, American journal of medical genetics. Part A.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human molecular genetics.

Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy

J. Belmont, N. Hanchard, J. Kaiser, 2019, Genetics in Medicine.

Histone proteoform analysis reveals epigenetic changes in adult mouse brown adipose tissue in response to cold stress

N. McKenna, S. Ochsner, H. Yalamanchili, 2024, Epigenetics & chromatin.