P. Hawley

Most-cited papers

Chromosomal microarray testing influences medical management
Michael E. Coulter, David T. Miller, D. Harris, P. Hawley +4 more
2011Genetics in Medicine128 citations Open access
Semantic Scholar
Sixty-four patients with Brachmann-de Lange syndrome: a survey.
P. Hawley, Laird G. Jackson, D. Kurnit, J. M. Opitz +1 more
1985American journal of medical genetics94 citations
Semantic Scholar
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
A. R. Duncan, Maya M. Polovitskaya, Héctor Gaitán-Peñas, S. Bertelli +35 more
2021American Journal of Human Genetics37 citations Open access
Semantic Scholar
Outcome of fetuses with a prenatal ultrasound diagnosis of isolated omphalocele
A. Porter, C. Benson, P. Hawley, L. Wilkins-Haug
2009Prenatal Diagnosis37 citations
Semantic Scholar
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy
H. Mclaughlin, M. Kelly, P. Hawley, B. Darras +2 more
2013BMC Medical Genetics34 citations Open access
Semantic Scholar
Isolated fetal omphalocele, Beckwith-Wiedemann syndrome, and assisted reproductive technologies.
L. Wilkins-Haug, A. Porter, P. Hawley, C. Benson
2009Birth defects research. Clinical and molecular teratology30 citations
Semantic Scholar
Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis.
P. A. Ward, J. Hejtmancik, Jan A. Witkowski, L. Baumbach +5 more
1989American Journal of Human Genetics30 citations
Semantic Scholar
A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations in GATA3 and STS Genes.
G. Goodwin, P. Hawley, David T. Miller
2016Journal of Clinical Endocrinology and Metabolism13 citations Open access
Semantic Scholar
Duplication of 5q15-q23.2: case report and literature review.
Jaclyn Douyard, P. Hawley, M. Shaham, V. Kimonis
2006Birth defects research. Clinical and molecular teratology9 citations Open access
Semantic Scholar
College News
Shuji Ogino, Robert B. Wilson, B. Gold, P. Hawley +1 more
2004Genetics in Medicine9 citations Open access
Semantic Scholar
Increase in fetal breech presentation in female carriers of Duchenne muscular dystrophy.
O. Geifman-Holtzman, Ira M. Bernstein, E. Capeless, P. Hawley +2 more
1997American journal of medical genetics7 citations
Semantic Scholar
Response to: Toriello et al., “Update on the Toriello–Carey Syndrome.” Further delineation of a young woman with deletion 1q42.12‐q42.2
Alexandra Garza-Flores, P. Hawley, J. Picker, Elizabeth Tannebring +2 more
2017American Journal of Medical Genetics. Part A1 citations
Semantic Scholar
Principles of Genetic Counseling
P. Hawley, G. Schneider, Farrah Rajabi
2021Albert and Jakobiec's Principles and Practice of Ophthalmology0 citations
Semantic Scholar