Elizabeth McPherson

Summary

Affiliation: Marshfield Clinic
Country: USA

Publications

  1. doi request reprint Discovering the cause of stillbirth
    Elizabeth McPherson
    Department of Medical Genetics, Marshfield Clinic, Marshfield, WI 54449, USA
    Curr Opin Obstet Gynecol 25:152-6. 2013
  2. pmc Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations
    Nader Ghebranious
    University of Wisconsin Medical School, Madison, Wisconsin, USA and Geriatrics Research, Education, and Clinical Center, William S, Middleton Veterans Administration Medical Center, Madison, Wisconsin, USA
    Scoliosis 2:13. 2007
  3. doi request reprint Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation
    Elizabeth McPherson
    Department of Medical Genetics, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Am J Med Genet A 149:567-72. 2009
  4. pmc Genetic diagnosis and testing in clinical practice
    Elizabeth McPherson
    Medical Genetics Services, Marshfield Clinic, Marshfield, WI 54449, USA
    Clin Med Res 4:123-9. 2006
  5. doi request reprint Clinical genetics provider real-time workflow study
    Elizabeth McPherson
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Genet Med 10:699-706. 2008
  6. ncbi request reprint Renal anomalies in families of individuals with congenital solitary kidney
    Elizabeth McPherson
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Genet Med 9:298-302. 2007
  7. ncbi request reprint Mitochondrial mutation in a child with distal arthrogryposis
    Elizabeth McPherson
    Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Am J Med Genet A 140:184-5. 2006
  8. ncbi request reprint Tetrasomy 9q in an infant with cleft palate and multiple anomalies
    Elizabeth McPherson
    Medical Genetics Services, Marshfield Clinic, Marshfield, WI 54449, USA
    Clin Dysmorphol 14:145-7. 2005
  9. ncbi request reprint Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome?
    Elizabeth McPherson
    Department of Medical Genetics Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Birth Defects Res A Clin Mol Teratol 70:537-44. 2004
  10. doi request reprint Newborn screening programs: should 22q11 deletion syndrome be added?
    Abigail M Bales
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Genet Med 12:135-44. 2010

Collaborators

Detail Information

Publications26

  1. doi request reprint Discovering the cause of stillbirth
    Elizabeth McPherson
    Department of Medical Genetics, Marshfield Clinic, Marshfield, WI 54449, USA
    Curr Opin Obstet Gynecol 25:152-6. 2013
    ..Stillbirth remains a major problem worldwide, with disparities both between and within nations. Evaluation and classification is essential for development and evaluation of preventive strategies...
  2. pmc Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations
    Nader Ghebranious
    University of Wisconsin Medical School, Madison, Wisconsin, USA and Geriatrics Research, Education, and Clinical Center, William S, Middleton Veterans Administration Medical Center, Madison, Wisconsin, USA
    Scoliosis 2:13. 2007
    ..We hypothesized that WNT3A mutations might account for a subset of congenital vertebral malformations...
  3. doi request reprint Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation
    Elizabeth McPherson
    Department of Medical Genetics, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Am J Med Genet A 149:567-72. 2009
    ..LMNA sequencing should be considered for patients presenting with dilated cardiomyopathy and hypergonadotropic hypogonadism, including those previously diagnosed with Malouf syndrome...
  4. pmc Genetic diagnosis and testing in clinical practice
    Elizabeth McPherson
    Medical Genetics Services, Marshfield Clinic, Marshfield, WI 54449, USA
    Clin Med Res 4:123-9. 2006
    ..Clinical evaluation and counseling of the patient who is at risk for a genetic disorder are labor intensive but essential for the selection and interpretation of genetic tests...
  5. doi request reprint Clinical genetics provider real-time workflow study
    Elizabeth McPherson
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Genet Med 10:699-706. 2008
    ..Our work is the first documentation, in real time, of workflow in a general genetics department including data on patient care, research, and other activities for both clinical geneticists and genetic counselors...
  6. ncbi request reprint Renal anomalies in families of individuals with congenital solitary kidney
    Elizabeth McPherson
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Genet Med 9:298-302. 2007
    ..The goal was to establish empiric risk estimates for counseling individuals with congenital solitary kidney...
  7. ncbi request reprint Mitochondrial mutation in a child with distal arthrogryposis
    Elizabeth McPherson
    Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Am J Med Genet A 140:184-5. 2006
    ..While the observation of MELAS in a child with distal arthrogryposis could be co-incidental, it raises concern about the possible role of mitochondrial myopathy or neuropathy in causation of distal arthrogryposis...
  8. ncbi request reprint Tetrasomy 9q in an infant with cleft palate and multiple anomalies
    Elizabeth McPherson
    Medical Genetics Services, Marshfield Clinic, Marshfield, WI 54449, USA
    Clin Dysmorphol 14:145-7. 2005
    ..The latter could be secondary to abnormal tone and contractures. Although tetrasomy 9p is a well-known entity, our patient, to our knowledge, is the first and only individual reported to have tetrasomy 9q...
  9. ncbi request reprint Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome?
    Elizabeth McPherson
    Department of Medical Genetics Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Birth Defects Res A Clin Mol Teratol 70:537-44. 2004
    ..Holoprosencephaly in 13q deletion patients appears to be due to ZIC2 mutations, but ZIC2 has not been previously tested in Steinfeld syndrome or GLS patients...
  10. doi request reprint Newborn screening programs: should 22q11 deletion syndrome be added?
    Abigail M Bales
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Genet Med 12:135-44. 2010
    ..Because addition of tests for highly variable conditions such as 22q11 deletion syndrome is likely to set a precedent for other syndromes, reevaluation of newborn screening criteria should be considered...
  11. doi request reprint Extreme values of maternal serum analytes in second trimester screening: looking beyond trisomy and NTD's
    Elizabeth McPherson
    Medical Genetics, Marshfield Clinic, Marshfield, WI, USA
    J Genet Couns 20:396-403. 2011
    ..Abnormal levels of maternal serum analytes provide information in addition to the risks for neural tube defects, Down syndrome, and trisomy 18. This information is important for counseling and pregnancy management...
  12. ncbi request reprint Prenatal diagnosis of episodic tachypnea in an infant with OFD VI
    Elizabeth McPherson
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Am J Med Genet A 140:2146-9. 2006
    ..The observation of prenatal tachypnea in these two patients, but not in typical Joubert patients, suggests they have either a variant of OFD VI or a new Joubert or OFD-like syndrome...
  13. doi request reprint A missense T (Brachyury) mutation contributes to vertebral malformations
    Nader Ghebranious
    Molecular Diagnostic Research Laboratory, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    J Bone Miner Res 23:1576-83. 2008
    ..TBX6 mutations do not seem to be associated with CVM. We hypothesize that epistatic interactions between T and other developmental genes and the environment modulate the phenotypic consequences of T variants...
  14. ncbi request reprint DLL3 as a candidate gene for vertebral malformations
    Philip F Giampietro
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Am J Med Genet A 140:2447-53. 2006
    ....
  15. doi request reprint Wisconsin Stillbirth Service Program: analysis of large for gestational age cases
    Bradley Burmeister
    Department of Medical Genetics Services, Marshfield Clinic, Wisconsin, USA
    Am J Med Genet A 158:2493-8. 2012
    ..We recommend pathologic evaluation of placentas from all stillbirths, close follow-up of pregnancies complicated by diabetes, and continued research into causes and pathophysiology of hydrops...
  16. ncbi request reprint Acute health events in adult patients with genetic disorders: the Marshfield Epidemiologic Study Area
    Philip F Giampietro
    Department of Medical Genetics, Marshfield Clinic, Marshfield, WI 54449, USA
    Genet Med 8:474-90. 2006
    ..We ascertained and reviewed acute health events occurring in 2003 among patients age 18 and greater with well-defined single gene, chromosomal, and selected multifactorial conditions within the Marshfield Epidemiologic Study Area...
  17. ncbi request reprint Evaluation of SLC35A3 as a candidate gene for human vertebral malformations
    Nader Ghebranious
    Molecular Diagnostics Genotyping Laboratory, Marshfield Clinic, Marshfield, Wisconsin, USA
    Am J Med Genet A 140:1346-8. 2006
  18. pmc FMR1 CGG expansions: prevalence and sex ratios
    Matthew J Maenner
    Waisman Center, University of Wisconsin Madison, Madison, WI, USA
    Am J Med Genet B Neuropsychiatr Genet 162:466-73. 2013
    ..66, 95% confidence interval 1.51-1.82). Further research is needed to understand the apparent excess prevalence of males with CGG repeats in this range...
  19. doi request reprint Wisconsin stillbirth services program: a multifocal approach to stillbirth analysis
    Beth Vanderwielen
    Department of Medical Genetics Services, Marshfield Clinic, Wisconsin, USA
    Am J Med Genet A 155:1073-80. 2011
    ..Improved understanding of the causes of late miscarriage and stillbirth may contribute to recognition and management of pregnancies at risk and eventually to prevention of stillbirth...
  20. doi request reprint Mild Tessier No. 7 cleft with PHACE syndrome: the case for pulmonary vascular steal
    Amit Bajaj
    Department of Pediatrics, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Am J Med Genet A 155:2298-301. 2011
    ..The absence of posterior fossa anomalies may reflect normal perfusion via the Circle of Willis...
  21. ncbi request reprint Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype
    Cathy Chu
    University of Pittsburgh, Pittsburgh, Pennsylvania
    Am J Med Genet A 127:167-71. 2004
    ..Paternal UPD14 with normal karyotype may be more common than previously suspected and may be overlooked unless recognition of the clinical phenotype prompts investigation for UPD...
  22. ncbi request reprint Single umbilical artery: what does it mean for the fetus? A case-control analysis of pathologically ascertained cases
    Sandra Prucka
    Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA
    Genet Med 6:54-7. 2004
    ..To ascertain the frequency of chromosomal and other anomalies in fetuses with single umbilical artery...
  23. ncbi request reprint Robinow syndrome with variable neurologic features
    Elizabeth McPherson
    Genet Med 8:59-60. 2006
  24. ncbi request reprint Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome
    Brenda A Shoo
    Department of Pediatrics, Institute of Genetic Medicine, Center for Craniofacial Development and Disorders, The Johns Hopkins University, Baltimore, Maryland 21287 3914, USA
    Am J Med Genet A 126:84-8. 2004
    ..However, we could not detect the mutation in her skin fibroblasts, suggesting she is mosaic secondary to cell type specific selection...
  25. ncbi request reprint Pharmacogenetics: ethical issues and policy options
    Allen Buchanan
    Department of Philosophy, University of Arizona, Tucson, AZ, USA
    Kennedy Inst Ethics J 12:1-15. 2002
    ..We analyze each of these categories of ethical issues and provide policy approaches for addressing them...
  26. ncbi request reprint Pharmacogenetic challenges for the health care system
    John A Robertson
    University of Texas School of Law, Austin, USA
    Health Aff (Millwood) 21:155-67. 2002
    ..Adaptation by drug companies, regulatory agencies, physicians, patients, insurers, and public funding agencies will be necessary to integrate pharmacogenetic medicine into health care...