EnikoKPivnickMD

PubMed

• A Newborn Infant with Congenital Central Hypoventilation Syndrome and Pupillary Abnormalities: A Literature Review.
  Mimily Harsono, Sandeep Chilakala, Shiva Bohn, Eniko K Pivnick, Massroor Pourcyrous> ;AJP Reports. 2022 Jul 1
• 1 citations
  Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies
  Rishika P. Sakaria, Parul G. Zaveri, Shannon Holtrop, Jie Zhang, Chester W. Brown, Eniko K. Pivnick> ;Frontiers in Genetics. 2021 Nov 25
• 73 citations
  Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial
  Ian D. Krantz, Livija Medne, Jamila M Weatherly, K Taylor Wild, Sawona Biswas, Batsal Devkota, Tiffiney R. Hartman, Luca Brunelli, Kristen P. Fishler, Omar A. Abdul-Ra...> ;JAMA Pediatrics. 2021 Sep 27
• 10 citations
  Kagami-Ogata Syndrome: Case Series and Review of Literature.
  Rishika P. Sakaria, Roya Mostafavi, Stephen T. Miller, Jewell C. Ward, Eniko K. Pivnick, Ajay J. Talati> ;AJP Reports. 2021 Mar 1
• 5 citations
  Expanding the Phenotype, Genotype and Biochemical Knowledge of ALG3‐CDG
  Hind Alsharhan, Bobby G. Ng, Earnest James Paul Daniel, Jennifer Friedman, Eniko K. Pivnick, Amal Alhashem, Eissa Faqeih, Pengfei Liu, Nicole Engelhardt, Kierstin N Ke...> ;Journal of Inherited Metabolic Disease. 2021 Feb 13
• 6 citations
  Expanding the spectrum of CEP55‐associated disease to viable phenotypes
  Elizabeth S. Barrie, Eline Overwater, Mieke M. van Haelst, M. Mahdi Motazacker, Kristen V. Truxal, Erin Crist, Roya Mostafavi, Eniko K. Pivnick, Asim F. Choudhri, Tara...> ;American Journal of Medical Genetics. Part A. 2020 Feb 25
• 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
• 3 citations
  A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism.
  Nora Urraca, Brian Potter, Rachel J. Hundley, Eniko K. Pivnick, Kathryn McVicar, Ronald L. Thibert, Christopher Ledbetter, Reed Chamberlain, Leticia Miravalle, Carissa...> ;Frontiers in Genetics. 2016 Nov 25
• 7 citations
  Neonatal Hospital Course and Outcomes of Live-born Infants with Trisomy 18 at Two Tertiary Care Centers in the United States
  Narendra R. Dereddy, Eniko K. Pivnick, Kirtikumar Upadhyay, Ramasubbareddy Dhanireddy, Ajay J. Talati> ;American Journal of Perinatology. 2016 Aug 4
• 119 citations
  High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phen...
  Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan E. Cochran, Mary Alice Abbott, Joan F. Atkin, Dusica Babovic-Vuk...> ;Human Mutation. 2015 Nov 1
• 53 citations
  Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
  Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Paulina Bahena, Sara L. Reichert, Abi...> ;American Journal of Human Genetics. 2015 Sep 3
• 4 citations
  Premature Pubarche in Children with Pompe Disease
  Queenie K.-G. Tan, David W. Stockton, Eniko K. Pivnick, Asim F. Choudhri, Stacy Hines-Dowell, Loren D.M. Pena, Melissa A. Deimling, Michael Freemark, Priya S. Kishnani> ;The Journal of Pediatrics. 2015 Apr 1
• 5 citations
  Trigeminal nerve agenesis with absence of foramina rotunda in Gómez–López–Hernández syndrome
  Asim F. Choudhri, Rakesh M Patel, Robert S. Wilroy, Eniko K. Pivnick, Matthew T. Whitehead> ;American Journal of Medical Genetics. Part A. 2015 Jan 1
• 1 citations
  Phenocopy of warfarin syndrome in an infant born to a mother with sickle cell anemia and severe transfusional iron overload.
  Yi Xie, Eniko K. Pivnick, Harris L. Cohen, Patricia Adams-Graves, Massroor Pourcyrous, Banu Aygun, Jane S. Hankins> ;Journal of Pediatric Hematology/oncology. 2013 Aug 1
• 114 citations
  The Interstitial Duplication 15q11.2‐q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature
  Nora Urraca, Julie Cleary, Victoria Brewer, Eniko K. Pivnick, Kathryn McVicar, Ronald L. Thibert, N. Carolyn Schanen, Carmen Esmer, Dustin Lamport, Lawrence T. Reiter> ;Autism Research. 2013 Aug 1
• 7 citations
  A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.
  Kelly L. Jones, Eniko K. Pivnick, Stacy Hines-Dowell, Debra E. Weese-Mayer, Elizabeth Berry-Kravis, Teresa Santiago, Chukwuma C. Nnorom, Massroor Pourcyrous> ;Pediatrics. 2012 Nov 1
• 13 citations
  Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES)
  Wilson S Robinson, Sandra R. Arnold, Christie F. Michael, John D Vickery, Robert Schoumacher, Eniko K. Pivnick, Jewell C. Ward, Vijaya Nagabhushanam, Dukhee B Lew> ;Clinical and Molecular Allergy. 2011 Nov 29
• 153 citations
  Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
  Claudia M.B. Carvalho, Melissa B. Ramocki, Davut Pehlivan, Luis M. Franco, Claudia Gonzaga-Jauregui, Ping Fang, Alanna E. McCall, Eniko K. Pivnick, Stacy Hines-Dowell,...> ;Nature Genetics. 2011 Nov 1
• 5 citations
  Wilms tumor in a patient with 22q11.2 microdeletion.
  Paul T. Finch, Eniko K. Pivnick, Wayne L. Furman, Christine C. Odom> ;American Journal of Medical Genetics. Part A. 2011 Mar 31
• 6 citations
  An Infant With Erythroderma, Skin Scaling, Chronic Emesis, and Intractable Diarrhea
  Alan R. Redding, D. Betty Lew, Mary Ellen Conley, Eniko K. Pivnick> ;Clinical Pediatrics. 2009 Nov 1
• 13 citations
  Cleft palate lateral synechia syndrome: An opportunity for unique surgical closure
  Sreekrishna Kanth Donepudi, Rose Mary S. Stocks, Eniko K. Pivnick, Corey Mineck, Jerome W. Thompson> ;International Journal of Pediatric Otorhinolaryngology. 2009 Jun 1
• 209 citations
  Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
  Marc Nicolino, Barry J. Byrne, James E. Wraith, Nancy D. Leslie, Hanna Mandel, David R. Freyer, Georgianne L. Arnold, Eniko K. Pivnick, C. J. Ottinger, Peter H. Robins...> ;Genetics in Medicine. 2009 Mar 1
• 3 citations
  Goltz syndrome: report of two severe cases
  Riddell W Scott, Eniko K. Pivnick, Stacy H Dowell, James W. Eubanks, Eunice Y. Huang, Ignatia B. Van den Veyver, Xiaoling Wang> ;BMJ Case Reports. 2009 Jan 1
• 67 citations
  Treatment of diffuse basal cell carcinomas and basaloid follicular hamartomas in nevoid basal cell carcinoma syndrome by wide-area 5-aminolevulinic acid photodynamic t...
  Allan R. Oseroff, Sherry Shieh, Noreen P. Frawley, Richard T. Cheney, Leslie E. Blumenson, Eniko K. Pivnick, David A. Bellnier> ;Archives of Dermatology. 2005 Jan 1
• 21 citations
  Visual evoked potentials in children with neurofibromatosis type 1.
  Alessandro Iannaccone, Richard A McCluney, Vickie R. Brewer, Peter H. Spiegel, June S. Taylor, Natalie C. Kerr, Eniko K. Pivnick> ;Documenta Ophthalmologica. Advances in Ophthalmology. 2002 Jul 1
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