P
Patricia A. Ward
Researcher at Baylor College of Medicine
Publications - 73
Citations - 7494
Patricia A. Ward is an academic researcher from Baylor College of Medicine. The author has contributed to research in topics: Exome sequencing & Prenatal diagnosis. The author has an hindex of 34, co-authored 65 publications receiving 6460 citations. Previous affiliations of Patricia A. Ward include University of Texas MD Anderson Cancer Center & University of California, Berkeley.
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Journal ArticleDOI
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang,Donna M. Muzny,Jeffrey G. Reid,Matthew N. Bainbridge,Alecia Willis,Patricia A. Ward,Alicia Braxton,Joke Beuten,Fan Xia,Zhiyv Niu,Matthew T. Hardison,Richard E. Person,Mir Reza Bekheirnia,Magalie S. Leduc,Amelia Kirby,Peter Pham,Jennifer Scull,Min Wang,Yan Ding,Sharon E. Plon,James R. Lupski,Arthur L. Beaudet,Richard A. Gibbs,Christine M. Eng +23 more
TL;DR: W whole-exome sequencing identified the underlying genetic defect in 25% of consecutive patients referred for evaluation of a possible genetic condition.
Journal ArticleDOI
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yaping Yang,Donna M. Muzny,Fan Xia,Zhiyv Niu,Richard E. Person,Yan Ding,Patricia A. Ward,Alicia Braxton,Min Wang,Christian J. Buhay,Narayanan Veeraraghavan,Alicia Hawes,Theodore Chiang,Magalie S. Leduc,Joke Beuten,Jing Zhang,Weimin He,Jennifer Scull,Alecia Willis,Megan Landsverk,William J. Craigen,Mir Reza Bekheirnia,Asbjørg Stray-Pedersen,Pengfei Liu,Shu Wen,Wendy Alcaraz,Hong Cui,Magdalena Walkiewicz,Jeffrey G. Reid,Matthew N. Bainbridge,Ankita Patel,Eric Boerwinkle,Eric Boerwinkle,Arthur L. Beaudet,James R. Lupski,Sharon E. Plon,Richard A. Gibbs,Christine M. Eng +37 more
TL;DR: Whole-exome sequencing provided a potential molecular diagnosis for 25% of a large cohort of patients referred for evaluation of suspected genetic conditions, including detection of rare genetic events and new mutations contributing to disease, and may offer advantages over traditional molecular diagnostic approaches in certain patients.
Journal ArticleDOI
Length of uninterrupted CGG repeats determines instability in the FMR1 gene.
Evan E. Eichler,Jeanette J. A. Holden,Bradley W. Popovich,Allan L. Reiss,Karen Snow,Stephen N. Thibodeau,C. Sue Richards,Patricia A. Ward,David L. Nelson +8 more
TL;DR: Analysis of 84 human X chromosomes for the presence of interrupting AGG trinucleotides within the CGG repeat tract of the FMR1 gene revealed that most alleles possess two interspersed AGGs and that the longest tract of uninterrupted CGG repeats is usually found at the 3′ end.
Journal ArticleDOI
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
Linyan Meng,Linyan Meng,Mohan Pammi,Anirudh Saronwala,Pilar L. Magoulas,Pilar L. Magoulas,Andrew R. Ghazi,Francesco Vetrini,Jing Zhang,Weimin He,Avinash V. Dharmadhikari,Chunjing Qu,Patricia A. Ward,Patricia A. Ward,Alicia Braxton,Alicia Braxton,Swetha Narayanan,Swetha Narayanan,Xiaoyan Ge,Mari Tokita,Teresa Santiago-Sim,Hongzheng Dai,Theodore Chiang,Hadley Stevens Smith,Mahshid S. Azamian,Laurie Robak,Bret L. Bostwick,Bret L. Bostwick,Christian P. Schaaf,Christian P. Schaaf,Lorraine Potocki,Lorraine Potocki,Fernando Scaglia,Fernando Scaglia,Carlos A. Bacino,Carlos A. Bacino,Neil A. Hanchard,Neil A. Hanchard,Michael F. Wangler,Michael F. Wangler,Daryl A. Scott,Daryl A. Scott,Chester W. Brown,Jianhong Hu,John W. Belmont,Lindsay C. Burrage,Lindsay C. Burrage,Brett H. Graham,Vernon R. Sutton,Vernon R. Sutton,William J. Craigen,William J. Craigen,Sharon E. Plon,Sharon E. Plon,James R. Lupski,Arthur L. Beaudet,Richard A. Gibbs,Donna M. Muzny,Marcus J. Miller,Marcus J. Miller,Xia Wang,Xia Wang,Magalie S. Leduc,Magalie S. Leduc,Rui Xiao,Rui Xiao,Pengfei Liu,Pengfei Liu,Chad A. Shaw,Magdalena Walkiewicz,Magdalena Walkiewicz,Weimin Bi,Weimin Bi,Fan Xia,Fan Xia,Brendan Lee,Christine M. Eng,Christine M. Eng,Yaping Yang,Yaping Yang,Seema R. Lalani,Seema R. Lalani,Seema R. Lalani +82 more
TL;DR: Exome sequencing is a powerful tool for the diagnostic evaluation of critically ill infants with suspected monogenic disorders in the neonatal and pediatric intensive care units and its use has a notable effect on clinical decision making.
Journal ArticleDOI
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
Daniela del Gaudio,Ping Fang,Fernando Scaglia,Patricia A. Ward,William J. Craigen,Daniel G. Glaze,Jeffrey L. Neul,Ankita Patel,Jennifer A. Lee,Mira Irons,Susan A. Berry,Amber Pursley,Theresa A. Grebe,Debra Freedenberg,Rick A. Martin,Gary E. Hsich,Jena R Khera,Neil R. Friedman,Huda Y. Zoghbi,Huda Y. Zoghbi,Christine M. Eng,James R. Lupski,Arthur L. Beaudet,Sau Wai Cheung,Benjamin B. Roa +24 more
TL;DR: The collective data suggest that increased MECP2 gene copy number is mainly responsible for the neurodevelopmental phenotypes in these males and underscores the value of molecular analysis for patient diagnosis, family members at risk, and genetic counseling.