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Patricia Hixson
Patricia Hixson
Verified email at stjude.org
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Cited by
Year
Detection of clinically relevant exonic copy‐number changes by array CGH
PM Boone, CA Bacino, CA Shaw, PA Eng, PM Hixson, AN Pursley, ...
Human mutation 31 (12), 1326-1342, 2010
2762010
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with> 1000 cases and review of the literature
A Breman, AN Pursley, P Hixson, W Bi, P Ward, CA Bacino, C Shaw, ...
Prenatal diagnosis 32 (4), 351-361, 2012
1502012
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
J Wiszniewska, W Bi, C Shaw, P Stankiewicz, SHL Kang, AN Pursley, ...
European Journal of Human Genetics 22 (1), 79-87, 2014
1452014
Phenotypic manifestations of copy number variation in chromosome 16p13. 11
SCS Nagamani, A Erez, P Bader, SR Lalani, DA Scott, F Scaglia, SE Plon, ...
European Journal of Human Genetics 19 (3), 280-286, 2011
1202011
Structural analysis of the full-length human LRRK2
A Myasnikov, H Zhu, P Hixson, B Xie, K Yu, A Pitre, J Peng, J Sun
Cell 184 (13), 3519-3527. e10, 2021
1112021
Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination
M Startek, P Szafranski, T Gambin, IM Campbell, P Hixson, CA Shaw, ...
Nucleic acids research 43 (4), 2188-2198, 2015
932015
Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era?
W Bi, C Borgan, AN Pursley, P Hixson, CA Shaw, CA Bacino, SR Lalani, ...
Genetics in medicine 15 (6), 450-457, 2013
872013
Molecular genetics of cystinuria: Mutation analysis of SLC3A1 and evidence for another gene in the type I (silent) phenotype
I Saadi, XZ Chen, M Hediger, P Ong, P Pereira, P Goodyer, R Rozen
Kidney international 54 (1), 48-55, 1998
861998
Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination
IM Campbell, T Gambin, P Dittwald, CR Beck, A Shuvarikov, P Hixson, ...
BMC biology 12, 1-10, 2014
842014
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles
PM Boone, IM Campbell, BC Baggett, ZT Soens, MM Rao, PM Hixson, ...
Genome research 23 (9), 1383-1394, 2013
812013
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities
SR Lalani, C Shaw, X Wang, A Patel, LW Patterson, K Kolodziejska, ...
European Journal of Human Genetics 21 (2), 173-181, 2013
742013
Novel 9q34. 11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
IM Campbell, SA Yatsenko, P Hixson, T Reimschisel, M Thomas, ...
Genetics in medicine 14 (10), 868-876, 2012
692012
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities
W Wiszniewski, JV Hunter, NA Hanchard, JR Willer, C Shaw, Q Tian, ...
The American Journal of Human Genetics 93 (2), 197-210, 2013
642013
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44
SCS Nagamani, A Erez, C Bay, A Pettigrew, SR Lalani, K Herman, ...
European Journal of Human Genetics 20 (2), 176-179, 2012
632012
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases
J Pham, C Shaw, A Pursley, P Hixson, S Sampath, E Roney, T Gambin, ...
European Journal of Human Genetics 22 (8), 969-978, 2014
612014
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications
P Szafranski, S Golla, W Jin, P Fang, P Hixson, R Matalon, D Kinney, ...
European Journal of Human Genetics 23 (7), 915-921, 2015
472015
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: Beyond breakage–fusion–bridge for telomere stabilization
SA Yatsenko, P Hixson, EK Roney, DA Scott, CP Schaaf, Y Ng, R Palmer, ...
Human genetics 131, 1895-1910, 2012
452012
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function
SCS Nagamani, A Erez, FJ Probst, P Bader, P Evans, LA Baker, P Fang, ...
Neurogenetics 13, 333-339, 2012
292012
Array comparative genomic hybridization detects chromosomal abnormalities in hematological cancers that are not detected by conventional cytogenetics
L Shao, SHL Kang, J Li, P Hixson, J Taylor, SA Yatsenko, CA Shaw, ...
The Journal of Molecular Diagnostics 12 (5), 670-679, 2010
292010
Detection of four mutations in six unrelated South African patients with acute intermittent porphyria
PML Ong, GW Lanyon, RJ Hift, J Halkett, MR Moore, CS Mgone, ...
Molecular and cellular probes 10 (1), 57-61, 1996
231996
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