MaryPat Jones

发表

Reticular dysgenesis–associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress

A. Schambach, L. Notarangelo, W. Al-Herz, 2015, The Journal of experimental medicine.

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

Tanya M. Teslovich, E. Gillanders, D. Stephan, 2006, European Journal of Human Genetics.

Combined genome-wide scan for prostate cancer susceptibility genes.

J. Carpten, E. Gillanders, J. Trent, 2004, Journal of the National Cancer Institute.

Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility

R. Sood, S. Chandrasekharappa, D. Kimble, 2018, PLoS genetics.

A high-throughput functional genomics workflow based on CRISPR/Cas9-mediated targeted mutagenesis in zebrafish

S. Burgess, Lisha Xu, Zelin Chen, 2016, Nature Protocols.

Papillorenal Syndrome-Causing Missense Mutations in PAX2/Pax2 Result in Hypomorphic Alleles in Mouse and Human

Haiquan Liu, Chun-hong Xia, B. Brooks, 2010, PLoS genetics.

Review of disrupted sleep patterns in Smith–Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion

M. Huizing, A. Lewy, E. Boudreau, 2009, American journal of medical genetics. Part A.

Genome‐wide scan for prostate cancer susceptibility genes using families from the University of Michigan prostate cancer genetics project finds evidence for linkage on chromosome 17 near BRCA1

E. Gillanders, J. Trent, K. Cooney, 2003, The Prostate.

Genome-wide scanning for linkage in Finnish breast cancer families

E. Gillanders, J. Trent, O. Kallioniemi, 2004, European Journal of Human Genetics.

Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis

J. Schleutker, Tiina Wahlfors, T. Tammela, 2012, European Journal of Human Genetics.

Genome‐wide scan of Swedish families with hereditary prostate cancer: Suggestive evidence of linkage at 5q11.2 and 19p13.3

E. Gillanders, H. Grönberg, F. Wiklund, 2003, The Prostate.

The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.

A. Elkahloun, V. Hoffmann, C. Venditti, 2020, Human molecular genetics.

Localization of a novel melanoma susceptibility locus to 1p22.

E. Gillanders, J. Trent, G. Mann, 2003, American journal of human genetics.

Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13

Tanya M. Teslovich, E. Gillanders, D. Stephan, 2003, Human Genetics.

Brain-derived neurotrophic factor and obesity in the WAGR syndrome.

G. Uhl, Qing-Rong Liu, O. Rennert, 2008, The New England journal of medicine.

Guided genetic screen to identify genes essential in the regeneration of hair cells and other tissues

Shuo Lin, Haigen Huang, S. Burgess, 2018, npj Regenerative Medicine.

High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9

Kevin Bishop, Lisha Xu, Anupam Prakash, 2015, Genome research.

Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases

K. Kindt, S. Burgess, Lisha Xu, 2016, Scientific Reports.

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.

Nancy F. Hansen, J. Mullikin, N. Hansen, 2010, Blood.

GWAS reveals new recessive loci associated with non-syndromic facial clefting.

B. Solomon, S. Chandrasekharappa, U. Harper, 2012, European journal of medical genetics.

Methods for reverse genetic screening in zebrafish by resequencing and TILLING.

J. Mullikin, Jinghui Zhang, Dongying Wu, 2006, Methods.

Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.

D. Pineda-Alvarez, A. Richieri‐Costa, M. Muenke, 2012, Birth defects research. Part A, Clinical and molecular teratology.

A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase.

R. Agarwala, A. Schäffer, S. Szymczak, 2015, Gastroenterology.

Hereditary prostate cancer in Finland: fine-mapping validates 3p26 as a major predisposition locus

E. Gillanders, J. Trent, Kenneth D. Gibbs, 2004, Human Genetics.

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

Claire L. Simpson, J. Schleutker, Tiina Wahlfors, 2011, International journal of cancer.

Genome-wide scanning for linkage in Finnish breast cancer families

E. Gillanders, J. Trent, O. Kallioniemi, 2004, European Journal of Human Genetics.

Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia

E. Ostrander, J. Wagner, A. Auerbach, 2016, Human mutation.

Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.

D. Adams, C. Boerkoel, W. Gahl, 2012, Molecular genetics and metabolism.

Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease

J. C. Correa, J. Swanson, N. Schork, 2012, Molecular Psychiatry.

Genome‐wide scan for prostate cancer susceptibility genes in the Johns Hopkins hereditary prostate cancer families

E. Gillanders, J. Trent, Jianfeng Xu, 2003, The Prostate.

Efficient Methods for Targeted Mutagenesis in Zebrafish Using Zinc-Finger Nucleases: Data from Targeting of Nine Genes Using CompoZr or CoDA ZFNs

Kevin Bishop, Blake Carrington, R. Sood, 2013, PloS one.

CBFβ and RUNX1 are required at 2 different steps during the development of hematopoietic stem cells in zebrafish.

A. Gore, R. Sood, B. Weinstein, 2014, Blood.

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.

T. Parsons, K. A. Holland, M. Coble, 2003, Mitochondrion.

Brain-derived neurotrophic factor and obesity in the WAGR syndrome.

G. Uhl, Qing-Rong Liu, O. Rennert, 2008, The New England journal of medicine.