Publications by authors named "Elizabeth A Geiger"

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Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.
Yulia Mostovoy, Feyza Yilmaz, Stephen K Chow, Catherine Chu, Chin Lin, Elizabeth A Geiger

Genetics· February 2021

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The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Wolfram Demaerel, Yulia Mostovoy, Feyza Yilmaz, Lisanne Vervoort, Steven Pastor, Elizabeth A Geiger

Genome Res· September 2019

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Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
Anita M Quintana, Hung-Chun Yu, Alison Brebner, Mihaela Pupavac, Elizabeth A Geiger

Hum Mol Genet· August 2017

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Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.
Hung-Chun Yu, Curtis R Coughlin, Elizabeth A Geiger, Blake J Salvador, Ellen R Elias

Cold Spring Harb Mol Case Stud· May 2016

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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Curtis R Coughlin, Gunter H Scharer, Marisa W Friederich, Hung-Chun Yu, Elizabeth A Geiger

J Med Genet· August 2015

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Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
Peter M Van Laarhoven, Leif R Neitzel, Anita M Quintana, Elizabeth A Geiger, Elaine H Zackai

Hum Mol Genet· August 2015

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Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.
Anita M Quintana, Elizabeth A Geiger, Nate Achilly, David S Rosenblatt, Kenneth N Maclean

Dev Biol· December 2014

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An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
Hung-Chun Yu, Elizabeth A Geiger, Livija Medne, Elaine H Zackai, Tamim H Shaikh

Am J Med Genet A· April 2014

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An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Hung-Chun Yu, Jennifer L Sloan, Gunter Scharer, Alison Brebner, Anita M Quintana, Elizabeth A Geiger

Am J Hum Genet· September 2013

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Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.
Tamim H Shaikh, Chad Haldeman-Englert, Elizabeth A Geiger, Chris P Ponting, Caleb Webber

Hum Mol Genet· March 2011

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A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.
Chad R Haldeman-Englert, Kimberly A Chapman, Hillary Kruger, Elizabeth A Geiger, Donna M McDonald-McGinn

Am J Med Genet A· January 2010

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A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.
Chad R Haldeman-Englert, Xiaowu Gai, Juan Carlos Perin, Melissa Ciano, Sara S Halbach, Elizabeth A Geiger

Eur J Med Genet· November 2009

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High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
Tamim H Shaikh, Xiaowu Gai, Juan C Perin, Joseph T Glessner, Hongbo Xie, Elizabeth A Geiger

Genome Res· September 2009

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A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.
Chad R Haldeman-Englert, Taiyabah Naeem, Elizabeth A Geiger, Ashley Warnock, Holly Feret

Am J Med Genet A· August 2009

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Copy number variation at 1q21.1 associated with neuroblastoma.
Sharon J Diskin, Cuiping Hou, Joseph T Glessner, Edward F Attiyeh, Marci Laudenslager, Elizabeth A Geiger

Nature· June 2009

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