PamelaLTrapaneMDMME, FAAP, FACMGG

PubMed

• 11 citations
  Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for mucocutaneous bleeding disorders.
  Robert F Sidonio Jr, Paulette C Bryant, Jorge Di Paola, Sarah Hale, Meadow Heiman, G Shellye Horowitz, Christi Humphrey, Julie Jaffray, Lora C Joyner, Raj Kasthuri, Ba...> ;Expert Review of Hematology. 2023 Mar 1
• 2 citations
  Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
  Jessica R C Priestley, Lisa M Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P F Alves, Ian M Campbell, Sanmati R Cuddapah, Nicole M Engelhardt, Marina Eskandar, Pal...> ;Molecular Genetics and Metabolism Reports. 2022 Dec 1
• 19 citations
  TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
  Lindsey D. Goodman, Heidi Cope, Zelha Nil, Thomas A. Ravenscroft, Wu Lin Charng, Shenzhao Lu, An-Chi Tien, Rolph Pfundt, David A. Koolen, Charlotte A. Haaxma, Hermine ...> ;American Journal of Human Genetics. 2021 Sep 2
• 1 citations
  Case report of a pseudo-isodicentric chromosome 9 resulting in mosaic trisomy 9.
  Sarah M. Beaudry, Oleg A Shchelochkov, Pamela Trapane, Benjamin W. Darbro, Jaime M. W. Nagy> ;Clinical Case Reports. 2021 Mar 9
• 6 citations
  A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
  Shereen G. Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W. Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour, Lynn Pai...> ;European Journal of Human Genetics. 2021 Feb 1
• 12 citations
  Genotype–phenotype correlation at codon 1740 of SETD2
  Rachel Rabin, Alireza Radmanesh, Ian A. Glass, William B. Dobyns, Kimberly A. Aldinger, Joseph T. Shieh, Shelby Romoser, Hannah Bombei, Leah Dowsett, Pamela Trapane, J...> ;American Journal of Medical Genetics. Part A. 2020 Jul 24
• 65 citations
  Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
  Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine A. Bosanko, Dus...> ;Human Mutation. 2020 Jan 1
• 1 citations
  A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins
  Justyna A. Karolak, Albino Bacolla, Qian Liu, Patrick E. Lantz, John K. Petty, Pamela Trapane, Karin Panzer, Balagangadhar R. Totapally, Zhiyv Niu, Rui Xiao, Nina G. X...> ;American Journal of Medical Genetics. Part A. 2019 Aug 22
• 20 citations
  Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
  Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D Hicks, Arthur S Aylsworth, Amedeo A Azizi, Donald G Basel, Gary Bellus, Lynne M Bi...> ;Genetics in Medicine. 2019 Apr 1
• Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlat...
  Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald Basel, Gary Bellus, Lynne M. ...> ;Genetics in Medicine. 2018 Jan 1
• 6 citations
  Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.
  Lyndsay A. Harshman, Bobby G. Ng, Hudson H. Freeze, Pamela Trapane, Anna Dolezal, Patrick D. Brophy, Jane E. Brumbaugh> ;Pediatrics International. 2016 Aug 1
• 34 citations
  ALG1-CDG: clinical and molecular characterization of 39 unreported patients
  Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, Jose E. Abdenur, Füsun Alehan, Alina T. Midro, Michael J. Bamshad, Rita B...> ;Human Mutation. 2016 Jul 1
• The childless man
  Angela E. Scheuerle, Jason L. Picconi, Julie Neidich, Susan Panny, Beth A. Plecher, Linda M. Randolph, Pamela Trapane, Tracy L. Trotter> ;American Journal of Medical Genetics. Part A. 2014 Feb 1
• 27 citations
  Cognitive and psychosocial phenotype of young children with neurofibromatosis-1.
  Bonita P. Klein-Tasman, Kelly M. Janke, Wen Luo, Christy L. Casnar, Scott J. Hunter, James H. Tonsgard, Pamela Trapane, Faye van der Fluit, Lorri A. Kais> ;Journal of the International Neuropsychological Society. 2014 Jan 1
• 2 citations
  A Rare Presentation of Neonatal Stridor
  Louella B. Amos, Diana Quintero, Regan Veith, Pamela Trapane, David J. Beste, William M. Gershan> ;Clinical Pediatrics. 2012 Mar 1
• 321 citations
  Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
  Pengfei Liu, Ayelet Erez, Sandesh C.S. Nagamani, Shweta U. Dhar, Katarzyna E. Kolodziejska, Avinash V. Dharmadhikari, M. Lance Cooper, Joanna Wiszniewska, Feng Zhang, ...> ;Cell. 2011 Sep 16
• 90 citations
  Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
  Jennifer J. Johnston, Julie C. Sapp, Joyce T. Turner, David J. Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann Bodurtha, Gerald F. Cox, Cynthia J. Curry...> ;Human Mutation. 2010 Oct 1
• 100 citations
  Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency
  Marjolijn Renard, Tammy M. Holm, Regan Veith, Bert Callewaert, Lesley C. Adès, Osman Baspinar, Angela Pickart, Majed Dasouki, Juliane Hoyer, Anita Rauch, Pamela Trapan...> ;European Journal of Human Genetics. 2010 Apr 14
• 41 citations
  Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de ...
  Jiong Yan, Feng Zhang, Ellen K. Brundage, Angela E. Scheuerle, Brendan C. Lanpher, Robert P. Erickson, Zöe Powis, Hazel Robinson, Pamela Trapane, D. Stachiw-Hietpas, K...> ;Journal of Medical Genetics. 2009 Sep 1
• 1 citations
  Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.
  David Dimmock, Pamela Trapane, Annette Feigenbaum, Catherine E. Keegan, Stephen Cederbaum, James B. Gibson, Michael J. Gambello, Keith Vaux, Patricia Ward, Gregory M. ...> ;Human Genetics. 2009 Aug 1
• 1 citations
  Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.
  David Dimmock, Pamela Trapane, Annette Feigenbaum, Catherine E. Keegan, Stephen Cederbaum, James B. Gibson, Michael J. Gambello, Keith Vaux, Patricia Ward, Gregory M. ...> ;Human Genetics. 2009 Aug 1
• 24 citations
  The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia
  David Dimmock, Pamela Trapane, Annette Feigenbaum, Catherine E. Keegan, Stephen D. Cederbaum, James B. Gibson, Michael J. Gambello, Keith K. Vaux, Patricia A. Ward, Gr...> ;American Journal of Medical Genetics. Part A. 2008 Nov 15
• 46 citations
  Mutation analysis of B3GALTL in Peters Plus syndrome.
  Linda M. Reis, Rebecca C. Tyler, Omar A. Abdul-Rahman, Pamela Trapane, Robert Wallerstein, Diane Broome, Jodi D. Hoffman, Aneal Khan, Christina Paradiso, Nitin Ron, Am...> ;American Journal of Medical Genetics. Part A. 2008 Oct 15
• 11 citations
  A carrier of both MEN1 and BRCA2 mutations: case report and review of the literature.
  Pavandeep Ghataorhe, Allison W. Kurian, Angela Pickart, Pamela Trapane, Jeffrey A. Norton, Kerry Kingham, James M. Ford> ;Cancer Genetics and Cytogenetics. 2007 Dec 1
• 14 citations
  Deletion 12q: a second patient with 12q24.31q24.32 deletion.
  Pamela L. Plotner, Janice L. Smith, Hope Northrup> ;American Journal of Medical Genetics. Part A. 2003 May 1
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Journal Articles

• Dysmorphology: Why it is Important to Practicing Psychologists  
  Orme D, Trapane P, Professional Psychology: Research and Practice. 44(6): 398-404., 12/2013

Books/Book Chapters

• Pediatrics Board Review, Core Curriculum 
  Chapter: Genetics 
  Trapane, PEditors: Cross, J.T. and Hannaman, R.A..MedStudy, Colorado SpringsEdition 5,2011
• Pediatrics Board Review, Core Curriculum 
  Chapter: Metabolic Genetics 
  Trapane, PEditors: Cross, J.T. and Hannaman, R.A..MedStudy, Colorado SpringsEdition 5,2011

Abstracts/Posters

• Case Report: Pilomyxoid Astrocytoma and Response to Chemotherapy in a Patient with NF1. (abstract 287).
  23. Panzer K, O’Dorisio MS, Trapane P., 2014 ACMG Annual Clinical Genetics Meeting, Nashville, Tennessee, 3/26/2014
• Two novel mutations in myosin heavy chain 11 (MYH11) reinforce the pathogenicity of mutations affecting IVS32 and suggest the peri-puerperium is a particularly vulnera...
  Gottlieb RL, Muilenburg A, Trapane P, Sheffield VC, 2011 American College of Cardiology Iowa Chapter Annual Meeting, Altoona, IA, 6/11/2011
• Attention and Inhibition in Young Children with NF-1: A Multimethod Study. (Abstract 50)
  Klein-Tasman BP, Kais LA, Trapane P, Hunter S, Tonsgard J, Janke K., 2011 NF Conference, Jackson Hole, WY, 6/1/2011
• Social Skills in Young Children with NF-1: Relations to Intellectual Functioning and Attention Problems. (Abstract 48).
  Klein-Tasman BP, Berka S, Kais LA, Trapane P, Tonsgard J, Hunter S, Janke K, 2011 NF Conference, Jackson Hole, WY, 6/1/2011
• Case Report: Non-ossifying Fibromas, Wilms Tumor, and Secondary Malignancies in a Patient with NF1.
  Panzer K, Buckwalter J, Menezes A, Shilyansky J, Tannous R, Trapane P, 2011 ACMG Annual Clinical Genetics Meeting, Vancouver, BC, 3/2011
• Case Report: Giant Cell Granuloma in a Patient with NF1
  Trapane P, Muilenburg A, Smith R, Tannous R, 2010 NF Conference, Baltimore, MD, 6/2010
• De novo 14q11.2 Deletion Associated with Hypotonia, Developmental Delay, and Minor Dysmorphic Features
  Griffis C, Trapane P, Aradhya S, 28th Annual Education Conference of the NSGC, Atlanta, GA, 11/2009
• Contribution of Executive Functioning to Academic Achievement in Adolescents with NF1 (Abstract 45).
  Janke KM, Holman KS, Garwood MM, Klein-Tasman BP, Davies WH, Trapane P, 2009 NF Conference, Portland, OR, 6/2009
• Early Indicators of cognitive and Learning Difficulties in Children with NF1: Preliminary Findings (Abstract 43).
  Janke KM, Kais LA, Klein-Tasman BP, Fine KM, Davies WH, Trapane, 2009 NF Conference, Portland, OR, 6/2009
• Adaptive and Psychosocial Function of Young Children with NF1: Preliminary Findings (Abstract 41
  Fine KM, Klein-Tasman BP, Janke KM, Magargee E, Davies WH, Trapane P, 2009 NF Conference, Portland, OR, 6/2009
• Siblings with Arthrogryposis, Myopathy, Multiple Congenital Anomalies, and Neonatal Lethality: A Variant of Adducted Thumbs Syndrome?
  Kleiman M, Veith R, Pape L, Stachiw-Hieptas D, Toriello H, Trapane P, 2009 ACMG Annual Clinical Genetics Meeting, Tampa, FL, 3/2009
• Microdeletion at 9q33.3q34.11 encompassing the LMX1B and ENG genes: a case report.
  Trapane P, Jarzembowski J, Bick D, Rhead W, Wargowski D, Aradhya S, Mitchell A, Veith R, 2008 annual meeting of The American Society of Human Genetics, Philadelphia,PA, 11/2008
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Lectures

• Genetic Testing in the Genomic Era: What You Need to Know 
  27th Annual Jauch Memorial Educational Symposium. Waterloo, IA. - 5/15/2015
• The Role of Genetics in Pediatric and Adult Medical Care 
  Northeast Iowa Medical Education Foundation. Family Practice Residency Program, Waterloo, IA. - 3/11/2015
• Genetic Testing in the Genomic Era: What You Need to Know 
  Grand Rounds: University of Iowa, Carver College of Medicine, Department of Pediatrics. - 2/13/2015
• Transitioning to Adulthood 
  Neurofibromatosis Symposium. Children’s Tumor Foundation, Children’s Hospital of Wisconsin. - 10/11/2014
• Surgical Options for N1 and NF2 
  Neurofibromatosis Symposium. Children’s Tumor Foundation, University of Iowa Children’s Hospital. - 5/17/2014
• The Role of Genetics in Pediatric and Adult Medical Care 
  Northeast Iowa Medical Education Foundation. Family Practice Residency Program, Cedar Rapids, IA - 11/4/2013
• Metabolic Genetics 
  MedStudy Pediatrics Intensive Board Review Course. Dallas, Texas - 8/6/2013
• Pediatric Genetics 
  MedStudy Pediatrics Intensive Board Review Course. Dallas, Texas - 8/5/2013
• Imaging Strategies 
  Neurofibromatosis Symposium. Children’s Tumor Foundation, University of Iowa Children’s Hospital. - 6/29/2013
• Hypermobility syndromes 
  24th Annual Iowa Rheumatology Symposium - 5/31/2013
• The Role of Genetics in Pediatric and Adult Medical Care 
  Northeast Iowa Medical Education Foundation. Family Practice Residency Program, Waterloo, IA. - 1/9/2013
• Introduction to Neurofibromatosis and Genetics. 
  The NF Midwest 21st Annual Symposium. Northern Illinois University. - 10/12/2012
• ​Healthcare in Adults 
  Neurofibromatosis Symposium. Children’s Tumor Foundation, University of Iowa Children’s Hospital. - 6/30/2012
• The Presentation of Common Genetic Disorders 
  University of Iowa College of Nursing and Iowa Association of Nurse Practitioners 2012 Spring Nurse - 5/3/2012
• Fetal Alcohol Syndrome 
  Blank Children’s Hospital. Pediatric Grand Rounds - 2/3/2012
• ​Genetics: It’s not just peas anymore 
  Iowa Developmental and Disability Nurses Association 2011 Fall Conference. - 9/15/2011
• Care of Common Genetic Disorders 
  Iowa Developmental and Disability Nurses Association 2011 Fall Conference - 9/15/2011
• New Frontiers in Neurofibromatosis 
  University of Iowa, Carver College of Medicine, Department of Neurology - 1/8/2011
• Evolutionary Genetics 
  Institute for Clinical and Translational Science Clinical Lecture Series. University of Iowa. - 2/4/2010
• ​Care of the Child with a Genetic Condition: Down, Turner, and Fragile X syndromes 
  Starkey Davis Pediatric CME Conference. Medical College of Wisconsin - 11/8/2008
• PKU: Past, Present, and Future 
  PADOW Winter Splash. PKU and Allied Disorders of Wisconsin - 2/2/2008
• Mental Retardation: Creating a Logical Approach to Genetic Testing 
  Starkey Davis Pediatric CME Conference. Medical College of Wisconsin. - 11/10/2007
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Other

• The Baby Who Wouldn’t Stop Crying 
  Mystery Diagnosis
  8/8/2008