ElizabethMcPhersonMDFAAP, FACMG

PubMed

• 14 citations
  Patient and family experiences and opinions on adding 22q11 deletion syndrome to the newborn screen.
  Abigail M Bales, Christina Zaleski, Elizabeth McPherson
  Journal of Genetic Counseling. 2010-05-22
• 20 citations
  Sacral tumors in Schinzel-Giedion syndrome.
  Elizabeth McPherson, Michele Clemens, Lori Hoffner, Urvashi Surti
  American Journal of Medical Genetics. 1998-08-27
• 141 citations
  Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis
  John A. Martignetti, Lifeng Tian, Dong Li, Maria Celeste M. Ramirez, Olga Camacho-Vanegas
  American Journal of Human Genetics. 2013-06-06

Journal Articles

• Radiographic Evaluation of Stillbirth: What Does it Contribute?  
  Swenson E, Schema L, McPherson EW, Am J Med Genet, 7/10/2014
• Stillbirth: the heart of the matter  
  Jorgensen M, McPherson EW, Zaleski C, Shivaram P, Cold C, Am J Med Genet, 3/1/2014
• Rodriguez syndrome with SF3B4 mutation: A severe form of Nager syndrome?  
  McPherson EW, Zaleski C, Ye Z, Lin S, Am J Med Genet, 1/1/2014
• FMR1 CGG expansions: Prevalence and sex ratios  
  Maenner MJ, Baker MW, Broman KW, Tian J, Barnes JK, Atkins A, McPherson EW, Hong J, Brilliant MH, Mailick MR, Am J Med Genet, Neuropsychiatr Genet, 7/1/2013
• Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis  
  Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, M..., Am J Hum Genet, 5/22/2013
• Severe Pallister-Hall Syndrome With Persistent Urogenital Sinus, Renal Agenesis, Imperforate Anus, Bilateral Hypothalamic Hamartomas, And Severe Skeletal Anomalies  
  McPherson EW and Cold C, Am J Med Genet, 1/1/2013
• Intestinal ganglioneuromatosis: Unusual presentation of Cowden syndrome resulting in delayed diagnosis  
  Vinitsky A, Zaleski CA, Sajjad SM, McPherson EW, Am J Med Genet, 1/1/2013
• Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen  
  Schwarze U, Cundy T, Pyott SM, Christiansen HE, Hegde MR, Bank RA, Pals G, Ankala A, Conneely K, Seaver L, Yandow SM, Raney E, Babovic-Vuksanovic D, Stoler J, Ben-Neri..., Hum Mol Genet, 1/1/2013
• Wiscconsin Stillbirth Service Program: Evaluation of Large for Gestational Age Cases  
  Burmester B, Zaleski C, Cold C, McPherson EW, Am J Med Genet, 1/1/2012
• 1q211 Study Group Proximal microdeletions and microduplications of 1q211 contribute to variable phenotypes  
  Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Baliff BC, Klopicki E, Mundlos, S, Shaffer LG, Aylsworth AS, Eur J Human Genet, 1/1/2012
• Mild Tessier no7 Cleft with PHACE syndrome: The Case for Pulmonary Vascular Steal  
  Bajaj A, Dyke P, Zaleski C, Cava J, McPherson EW, Am J Med Genet, 1/1/2011
• Extreme Values of Maternal Serum Analytes in Second Trimester Screening: Looking Beyond Trisomy and NTD's  
  McPherson EW, Thomas GD, Manlick C, Zaleski C, Reynolds KK, Rasmussen K, Giampietro PF, Wiley C, Mascola M, J Genet Couns, 1/1/2011
• Wisconsin Stillbirth Services Program: A Multifocal Approach to Stillbirth Analysis  
  VanderWielen B, Zaleski C, Cold C, McPherson EW, Am J Med Genet, 1/1/2011
• Partial Hexasomy for the Prader-Willi-Angelman Syndrome Critical Region Due to a Maternally Inherited Large Supernumerary Marker Chromosome  
  Hoppman-Chaney NL, Dawson DB, Nguyen L, Sengupta S, Reynolds K, McPherson EW, Velagaleti G, Am J Med Genet, 1/1/2010
• Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals  
  Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, Rosenbaum K, Dubourg C, David V, Olney AH, Wehner LE, Hehr U, Bale S, Paulussen A, Smeets HJ, Hardisty E, Tylk..., J Med Genet, 1/1/2010
• Patient and Family Experiences and Opinions on Adding 22q11 Deletion Syndrome to the Newborn Screen  
  Bales AM, Zaleski CA, McPherson EW, J Genet Couns, 1/1/2010
• Newborn screening programs: Should 22q11 deletion be added?  
  Bales AM, Zaleski CA, McPherson EW, Genet Med, 1/1/2010
• Ovarian Failure and Dilated Cardiomyopathy due to a novel Lamin Mutation  
  McPherson EW, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro P, Am J Med Genet, 1/1/2009
• The Co-Occurrence of Early Onset Parkinson Disease and 22q112 Deletion Syndrome  
  Zaleski C, Bassett AS, Tam K, Shugar AL, Chow EWC, McPherson EW, Am J Med Genet, 1/1/2009
• Janiceps conjoined twins with extreme asymmetry: Case report with complete autopsy and histopathological findings  
  Kastenbaum HA, McPherson EW, Murdoch GH, Ozolek JA, Pediatr Dev Pathol, 1/1/2009
• Clinical genetics provider real-time workflow study  
  McPherson EW, Zaleski CA, Benishek K, McCarty CA, Giampietro PF, Reynolds KK, Rasmussen K, Genetics in Medicine, 1/1/2008
• A Missense T(Brachyury) Mutation Contributes to Vertebral Malformations  
  Ghebranious N, Blank RD, Raggio CL, Staubli J, McPherson EW, Ivacic L, Rasmussen K, Jacobsen FS, Fascizewski T, Burmester JK, Pauli RM, J, Boachie-Adeji O, Glurich I, ..., J Bone Miner Res, 1/1/2008
• Adults with genetic syndromes and cardiovascular anomalies: Clinical history and management  
  Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn, McPherson EW, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pob..., Genet Med, 1/1/2008
• Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations  
  Ghebranious N, Raggio CL, Blank RD, McPherson EW, Burmester JK, Ivacic L, Rasmussen K, Kislow J, Glurich I, Jacobsen FS, Fascizewski T, Pauli RM, Boachie-Adeji O, Giam..., Scoliosis, 1/1/2007
• Renal anomalies in families of individuals with congenital solitary kidney  
  McPherson EW, Genet Med, 1/1/2007
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Books/Book Chapters

• Complex Craniofacial Problems 
  Chapter: Genetic Function in Craniofacial Syndromes 
  Page 97 - 130McPherson EEditors: CR Dufresne, BJ Carson, and SJ Zinreich.Churchill Livingstone, NY1992
• Thermoregulatory Mechanisms and Their Theraputic Implications 
  Chapter: Malignant Hyperthermia: Genetic Heterogeneity 
  Page 142 - 144McPherson EW, Taylor CAKarger, Basel, Switzerland1980

Abstracts/Posters

• Minor Anomalies in Stillborn Infants
  McPherson EW, 35th Annual David W smith Workshop on Malformations and Morphogenesis, Madison, WI, 7/1/2014
• Mosaic 3.9 kb PTCH1 Duplication as a Cause for Multiple Basal Cell Carcinomas
  Schema L, Brautbar A, McPherson EW, Zaleski C, American College of Medical Genetics, Nashville, TN, 3/1/2014
• Congenital Lymphovascular Anomalies in a Mosaic Distribution
  McPherson EW, 34th Annual David W smith Workshop on Malformations and Morphogenesis, Mt. Tremblant, Quebec, Canada, 8/1/2013
• Expanded Phenotype of Axenfeld Spectrum: Congenital Hypothyroidism, Hearing Loss and Glaucoma
  Bitrian E, McPherson EW, Grajewski AL, ARVO Annual Meeting, Life-Changing Research, Seattle, WA, 5/5/2013
• Building a Statewide System for Stillbirth and Infant Loss. Bridging Clinical Evaluation Services of Stillbirth Review with Grief and Bereavement Family Care and Suppo...
  Helmquist P, McPherson EW, Ordinans K, Jackson V, 013 WAPC Annual Conference, Waukesha, WI, 4/21/2013
• Tumors in the Stillborn Population
  McPherson EW, Cold C, Johnson P. Schema L, Zaleski C, American College of Medical Genetics, Phoenix, AZ, 3/1/2013
• Stillbirth: The Heart of the Matter
  McPherson EW, Jorgensen M, Zaleski C, Cold C, 33rd Annual David W Smith Workshop on Malformations and Morphogenesis, Lake Lanier Resort, Buford, GA, 8/1/2012
• Rodriguez syndrome in a living infant
  McPherson EW, Zaleski C, Brautbar A, American College of Medical Genetics, Charlotte, NC, 3/1/2012
• Too Large to Live? Large for gestational age babies who are born still
  McPherson EW, Cold C, 32nd Annual David W Smith Workshop on Malformations and Morphogenesis, Lake Arrowhead, CA, 9/1/2011
• Recurrence of Stillbirth: A Double Tragedy
  McPherson EW, American College of Medical Genetics, Vancouver, BC, Canada, 3/1/2011
• Axenfeld-Reiger, microcephaly, and congenital hypothyroidism: A New Syndrome?
  McPherson EW, Zaleski C, Zador I, Murali H, Grajewski A, American Society of Human Genetics, Washington, DC, 11/1/2010
• Stillbirth: A Multifactorial Problem
  McPherson EW and Cold C, 31st Annual David W Smith Workshop on Malformations and Morphogenesis, Alderbrook Resort, Union, WA, 8/1/2010
• Paternal Isodisomy 19
  McPherson EW, Zaleski C, Weber J, Cold C, American College of Medical Genetics, Albuquerque, New Mexico, 1/1/2010
• Mild Tessier 7 Cleft with PHACE syndrome: The Case for Vascular Steal
  McPherson EW, Dyke P, Meyer K, Zaleski C, 30th Annual David W Smith Workshop on Malformations and Morphogenesis, Philadelphia, PA, 8/1/2009
• Extreme values of maternal serum analytes: looking beyond trisomy and NTD's
  McPherson EW, Daugherty G, Manlick C, Zaleski C, Reynolds K, Rasmussen K, Giampietro PF, Wiley C, Mascola M, American College of Medical Genetics, Tampa, FL, 1/1/2009
• Phenotypic variability in patients with chromosome microdeletions at 1q21.1, including deletions confined to the proximal TAR region
  Aylsworth AS, Rosenfeld J, McPherson EW, Powell CM, Asamoah A, Mundlos S, Shaffer L, and the 1q21.1 Study Group, American College of Medical Genetics, Tampa, FL, 1/1/2009
• ATT Deficiency; An Inflammatory Disease of Connective Tissue?
  McPherson EW, 29th Annual David W Smith Workshop on Malformations and Morphogenesis, Hotel du Lac Mont-Tremblant, Quebec, Canada, 8/1/2008
• Clinical Genetics Real-time Workflow Study (Platform Presentation)
  McPherson EW, Zaleski C, Benishek K, Giampietro PF, Rasmussen K, Reynolds K, American College of Medical Genetics 15th Annual Clinical Genetics Meeting, Phoenix, AZ, 3/1/2008
• Stillbirth: A Multifactorial Problem
  McPherson EW, Cold C, American Society of Human Genetics 57th Annual Meeting, San Diego, CA, 10/1/2007
• Evidence for T(Brachyury) as a Candidate Gene for Vertebral Malformations
  Giampietro P, Raggio C, Staubli J, McPherson EW, Ivacic L, Rasmussen K, Jacobsen FS, Fascisewski F, Pauli RM, Burmester J, Glurich I, Boachie-Adjer O, Blank R, American Society of Human Genetics 57th Annual Meeting, San Diego, CA, 10/1/2007
• SOX9 micro- and macrodeletions are not uncommon in campomelic dysplasia
  Scherer G, Jin W, Wessels M, Hordjik R, van Ravenswaaij C, Obersztyn E, Blair E, McPherson EW, Sillence D, American Society of Human Genetics 57th Annual Meeting, San Diego, CA, 10/1/2007
• Familial Partial Malrotation Presenting Prenatally
  McPherson EW, Zaleski C, Cold C, 28th David W Smith Workshop on Malformations and Morphogenesis, Williamsburg, VA, 8/1/2007
• Cord "Accidents": Not Always Accidental
  McPherson EW, Cold C, 28th David W Smith Workshop on Malformations and Morphogenesis, Williamsburg, VA, 8/1/2007
• Surti . Subtelomeric Rearrangements: Clinical and Basic Research Implications. Review of Patients from the University of Pittsburgh Medical Center
  Bedoyan JK, Sathamoon M, Feingold E, Mann SL, Vockley G, McPherson EW, Feingold DN, Bay CA, American College of Medical Genetics, Nashville, TN, 3/1/2007
• Ovarian Failure and Dilated Cardiomyopathy Due to a Novel Lamin Mutation
  McPherson EW, Reynolds K, Zador I, Giampietro P, American College of Medical Genetics, Nashville, TN, 3/1/2007
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