Publications by authors named "MaryPat Jones"

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The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
Jennifer L Sloan, Nathan P Achilly, Madeline L Arnold, Jerrel L Catlett, Trevor Blake, Marypat Jones

Hum Mol Genet· August 2020

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Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility.
Ramanagouda Ramanagoudr-Bhojappa, Blake Carrington, Mukundhan Ramaswami, Kevin Bishop, Gabrielle M Robbins, MaryPat Jones

PLoS Genet· December 2018

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Guided genetic screen to identify genes essential in the regeneration of hair cells and other tissues.
Wuhong Pei, Lisha Xu, Sunny C Huang, Kade Pettie, Jennifer Idol, MaryPat Jones

NPJ Regen Med· June 2018

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A high-throughput functional genomics workflow based on CRISPR/Cas9-mediated targeted mutagenesis in zebrafish.
Gaurav K Varshney, Blake Carrington, Wuhong Pei, Kevin Bishop, Zelin Chen, Marypat Jones

Nat Protoc· December 2016

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Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.
Wuhong Pei, Lisha Xu, Gaurav K Varshney, Blake Carrington, Kevin Bishop, MaryPat Jones

Sci Rep· July 2016

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Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.
Frank X Donovan, Danielle C Kimble, Yonghwan Kim, Francis P Lach, Ursula Harper, MaryPat Jones

Hum Mutat· May 2016

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A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase.
Yoshitatsu Sei, Xilin Zhao, Joanne Forbes, Silke Szymczak, Qing Li, MaryPat Sussex Jones

Gastroenterology· July 2015

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High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9.
Gaurav K Varshney, Wuhong Pei, Matthew C LaFave, Jennifer Idol, Lisha Xu, MaryPat Jones

Genome Res· July 2015

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Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress.
Alberto Rissone, Katja Gabriele Weinacht, Giancarlo la Marca, Kevin Bishop, Elisa Giocaliere, Marypat Jones

J Exp Med· July 2015

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CBFβ and RUNX1 are required at 2 different steps during the development of hematopoietic stem cells in zebrafish.
Erica Bresciani, Blake Carrington, Stephen Wincovitch, MaryPat Jones, Aniket V Gore

Blood· July 2014

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Efficient methods for targeted mutagenesis in zebrafish using zinc-finger nucleases: data from targeting of nine genes using CompoZr or CoDA ZFNs.
Raman Sood, Blake Carrington, Kevin Bishop, MaryPat Jones, Alberto Rissone

PLoS One· September 2013

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Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis.
Claire L Simpson, Cheryl D Cropp, Tiina Wahlfors, Asha George, Marypat S Jones

Eur J Hum Genet· April 2013

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Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.
Lucilene A Ribeiro, Erich Roessler, Ping Hu, Daniel E Pineda-Alvarez, Nan Zhou, Marypat Jones

Birth Defects Res A Clin Mol Teratol· November 2012

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GWAS reveals new recessive loci associated with non-syndromic facial clefting.
Mauricio Camargo, Dora Rivera, Lina Moreno, Andrew C Lidral, Ursula Harper, Marypat Jones

Eur J Med Genet· October 2012

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Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.
Thomas C Markello, Ted Han, Hannah Carlson-Donohoe, Chidi Ahaghotu, Ursula Harper, MaryPat Jones

Mol Genet Metab· March 2012

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Genome-wide linkage scan for prostate cancer susceptibility in Finland: evidence for a novel locus on 2q37.3 and confirmation of signal on 17q21-q22.
Cheryl D Cropp, Claire L Simpson, Tiina Wahlfors, Nati Ha, Asha George, MaryPat S Jones

Int J Cancer· November 2011

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Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.
Meral Gunay-Aygun, Yifat Zivony-Elboum, Fatma Gumruk, Dan Geiger, Mualla Cetin, Marypat Jones

Blood· December 2010

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Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human.
Ramakrishna P Alur, Camasamudram Vijayasarathy, Jacob D Brown, Mohit Mehtani, Ighovie F Onojafe, Marypat Jones

PLoS Genet· March 2010

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Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion.
Eilis A Boudreau, Kyle P Johnson, Angela R Jackman, Jan Blancato, Marjan Huizing, Marypat Jones

Am J Med Genet A· July 2009

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Brain-derived neurotrophic factor and obesity in the WAGR syndrome.
Joan C Han, Qing-Rong Liu, MaryPat Jones, Rebecca L Levinn, Carolyn M Menzie

N Engl J Med· August 2008

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A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
Nanna D Rendtorff, Mei Zhu, Toril Fagerheim, Torben L Antal, MaryPat Jones

Eur J Hum Genet· October 2006

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Methods for reverse genetic screening in zebrafish by resequencing and TILLING.
Raman Sood, Milton A English, MaryPat Jones, James Mullikin, Duen-Mei Wang

Methods· July 2006

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Hereditary prostate cancer in Finland: fine-mapping validates 3p26 as a major predisposition locus.
Annika Rökman, Agnes B Baffoe-Bonnie, Elizabeth Gillanders, Henna Fredriksson, Ville Autio, Marypat Jones

Hum Genet· January 2005

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Combined genome-wide scan for prostate cancer susceptibility genes.
Elizabeth M Gillanders, Jianfeng Xu, Bao-li Chang, Ethan M Lange, Fredrik Wiklund, MaryPat Jones

J Natl Cancer Inst· August 2004

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Comparison of the complete mtDNA genome sequences of human cell lines--HL-60 and GM10742A--from individuals with pro-myelocytic leukemia and leber hereditary optic neuropathy, respectively, and the inclusion of HL-60 in the NIST human mitochondrial DNA standard reference material--SRM 2392-I.
Barbara C Levin, Koren A Holland, Diane K Hancock, Michael Coble, Thomas J Parsons, Marypat Jones

Mitochondrion· June 2003

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