Semmelweis University of Medical Sciences, Hungary

---

American Board of Medical Genetics and Genomics

---

St. Stephen Hospital, Hungary - Ophthalmology| University of Tennessee Health Science Center - Pediatrics

---

St. Stephen Hospital - Ophthalmology | University of Tennessee Health Science Center - Pediatrics

---

Memphis Eye and Cataract Associates, and University of Tennessee Health Science Center - Clinical Genetics

Reviewer for Journal of Pediatric and Medical Oncology and Pediatric Nephrology Journal

---

American Academy of Pediatrics, American Society of Human Genetics, Tennessee Pediatrics Association, National Neurofibromatosis Foundation

---

C.M.B Carvalho, M.B. Ramocki, D. Pehlivan, L.M. Franco, C. Gonzaga-
Jauregui, A. McCall, EK Pivnick, S. Hines-Dowell, L. Seaver, l . Friehling, S. Lee, R.
Smith, D. del Gaudio, M. Withers, P. Liu, S.W. Cheung, J. Belmont, H. Y. Zoghbi, P.J.
Hastings, J. R. Lupski. Inverted genomic segments and complex triplication rearrangements
are mediated by inverted repeats in the human genome. Nature Genetics October 2;
43(11):1074-81 (2011)

Yi Xie , EK Pivnick, H L. Cohen, PE. Adams-Graves, MPourcyrous, B Aygun, JS Hankins. Phenocopy of Warfarin Syndrome in an infant Born to a
Mother with Sickle Cell Anemia and Severe Transfusional Iron Overload. J Pedatr Hematol Oncol Sep 26 2012 [Epub ahead of print].

ST Donovan, MD, JW Thompson, MD, JT Sandlund, MD, EE Adderson, MD, EK Pivnick,
MD, JH Harreld, MD. Imaging of Acute Invasive Fungal Rhinosinusitis in a Patient with
Gorlin Syndrome. Case Reports in Otolaryngology. June 2013. PMID: 23853729 [PubMed]

Park V, Brescia W, Nishimoto S, Ward J, Pivnick E, Nace G, Chesney R. Genetic Risk for
Recessively Inherited Disease (Duchenne Muscular Dystrophy and Congenital Hearing
Loss). MedEdPORTAL; 2012. Available from: www.mededportal.org/publication/9211

Nora Urraca, Julie Cleary, Victoria Brewer, Eniko K. Pivnick, Kathryn McVicar, Ron Thibert, N. Carolyn Schanen, Carmen Esmer, Dustin Lamport, and Lawrence T. Reiter . The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and Characteristic EEG Signature. Autism Research, Vol 6, Issue 4, 266-279, August 2013

Asim F. Choudhri, Rakesh M. Patel, Robert S. Wilroy, Eniko K Pivnick and Matthew T. Whitehead. Trigeminal Nerve Agenesis with Absence of Foramina Rotunda in Lopez-Gomez-Fernandez Syndrome. Am J Med Genet Part A, Vol 167, Issue 1, January 2015, Pages: 238-242

Queenie K.-G. Tan, Sue Mei Cheah, Stacy Hines-Dowell, Stephanie M.
Dearmey, Melissa Deimling, Eniko K. Pivnick, Priya S. Kishnani:
Premature Pubarche in Infantile Pompe Disease. J Pediatr. 2015
Apr;166(4):1075-1078.

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens,
Ying Liu, Meagan Cochran, Mary-Alice Abbott, Joan Atkin, Dusica Babovic-
Vuksanovic, Christopher P. Barnett, Melissa Crenshaw, Dennis W.
Bartholomew, Lina Basel, Gary Bellus , Shay Ben-Shachar, Martin G. Bialer,
David Bick, Bruce Blumberg, Fanny Cortes, Karen L. David, Anne Destree,
Anna Duat-Rodriguez, Dawn Earl, Luis Escobar, Marthanda Eswara , Begona
Ezquieta, Ian Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp,
Concepcion Hernández-Chico, Kurt Heyrman, Jennifer Ibrahim , Sandra
Janssens, Beth A Keena, Isabel Llano Rivas, Kathy Leppig, Marie McDonald,
Vinod K. Misra, Jennifer Mulbury, Vinod Narayanan, Naama Orenstein, Patricia Galvin-Parton, Helio Pedro,
Eniko K. Pivnick, Cynthia Powell, Linda Randolph, Salmo Raskin, Karol
Rubin , Margretta Seashore, Christian P. Schaaf, Angela Scheuerle, Meredith
Schultz, Elizabeth Schorry, Rhonda Schnur, Elizabeth Siqveland, Amanda
Tkachuk, James Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie
Wallace, Charles Williams , Elaine Zackai, Jonathan Zonana. Cnxi Lazaro,
Kathleen Claes, Bruce Korf, Yolanda Martin, Eric Legius, Ludwine
Messian High Incidence of Noonan Syndrome Features including short stature and
Pulmonic Stenosis in patients carrying NF1 Missense Mutations affecting
p.Arg1809: Genotype-Phenotype Correlation

Human Mutation 2015 Nov;36(11):1052-63

Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Paulina Bahena, Sara L. Reichert, Abigail Loh, Graham D. Wright, Jaron Liu, Elisa Rahikkala, Eniko K. Pivnick, Asim F. Choudhri, Ulrike Krüger, Tomasz Zemojtel, Conny van Ravenswaaij-Arts, Roya Mostafavi, Irene Stolte-Dijkstra, Sofie Symoens, Leila Pajunen, Lihadh Al-Gazali, David Meierhofer, Peter N. Robinson. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5­Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
Am.J Hum Genet Volumen 97, Issue 3, September 2015, Pages 483–492

Nora Urraca, , Brian Potter Rachel Hundley, Eniko K Pivnick, Kathryn McVicar, Ronald L Thibert, Christopher Ledbetter, Reed Chamberlain, Leticia Miravelle, Carissa Serois, Stormy Chamberlain, and Lawrence T. Reiter. A Rare Mosaic Maternally Derived Interstitial 15q11.2­q13.1-Duplication Family. Front. Genet. 25 November 2016

Dereddy Narendra; Pivnick Eniko; Upadhyay Kirtikumar; Dhanireddy Ramasubbareddy; Talati Ajay. Neonatal Hospital Course and Outcome of Live-born Infants with Trisomy 18 at Two Tertiary Care Centers in United States.
American Journal of Perinatology; 34(03):270-275, 2017