Juanita Neira Fresneda, MD
Areas of expertise: Metabolism
Locations: Main Building, Buerger Center for Advanced Pediatric Care
About Juanita Neira Fresneda, MD
Dr. Juanita Neira is a board-certified Clinical and Biochemical Geneticist in the Division of Human Genetics at The Children’s Hospital of Philadelphia (CHOP) and an Associate Professor at the University of Pennsylvania Perelman School of Medicine. She completed her Medical and Biochemical Genetics training at Baylor College of Medicine.
Dr. Neira has contributed to research studies exploring new therapeutics for IEMs and lysosomal storage disorders. Her areas of expertise include inborn errors of metabolism (IEM), with a focus on urea cycle disorders, fatty acid oxidation defects, and congenital disorders of glycosylation. She is a member of the consortium for disorders of glycosylation (FCDGC), a multicenter collaboration dedicated to defining the natural history of these conditions, which is essential for improving patient outcomes.
In addition, Dr. Neira has a particular interest in Potocki-Lupski Syndrome, Smith-Magenis Syndrome, and the group of disorders known as Cohesinopathies. She has collaborated on projects that aim to identify new gene discoveries and is eager to continue advancing research in these areas.
Titles
Attending Physician
Associate Professor of Clinical Pediatrics, Perelman School of Medicine at the University of Pennsylvania
Certifications
Clinical Genetics and Genomics – American Board of Medical Genetics and Genomics
Medical Biochemical Genetics – American Board of Medical Genetics and Genomics
Awards and Honors
2024, Doctor's Day Recognition Award, Emory University School of Medicine
2024, Top Rated Abstract, American College of Medical Genetics Conference, Toronto, Canada
2024, Top Doctors, Castle Connolly
2016, Clinical Genetics Fellowship in Biochemical Genetics Award, American College of Medical Genetics
2013, Resident of the Month, Department of Pediatrics, Woodhull Medical Center
2008, Best Graduate Recognition, Fundación Universitaria de Ciencias de la Salud
2008, Honors Graduate, highest GPA of graduating class, Fundación Universitaria de Ciencias de la Salud
2004, 2006, 2008, Academic Excellence Scholarship for high GPA, Fundación Universitaria de Ciencias de la Salud
Leadership and Memberships
2024-present, American College of Medical Genetics
- 2024-present, Therapeutics Committee
2022-present, National Organization for Rare Disorders
- 2022-present, Education Committee
2021-present, Frontiers in Congenital Disorder of Glycosylation Consortia
- 2021-present, Natural History Study
- 2021-present, Rare Diseases Clinical Research Network
Editorial and Academic Positions
Editorial Positions
2024-present, Peer Reviewer, Molecular Genetics and Metabolism
2023-present, Peer Reviewer, ACR-AME Case Reports
2023-present, Peer Reviewer, American Journal of Human Genetics
Education & training
Medical Degree
MD - Fundación Universitaria de Ciencias de la Salud, Bogotá, Colombia
Residency
Pediatrics - Woodhull Medical and Mental Health Center, Brooklyn, NY
Medical Genetics - Baylor College of Medicine, Houston, TX
Fellowship
Medical Biochemical Genetics - Baylor College of Medicine, Houston, TX
Publications
Publications
2024
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Levesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame D, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga D, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillman RC, Srinivasan VM, Torbati PN, Tos T; Undiagnosed Diseases Network; Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS: Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy. Nature Communications 5(14): doi: 10.1101, Jan 2024 Notes: epub.
Koch I, Slovik M, Zhang Y, Liu B, Rennie M, Konz E, Cogne B, Daana M, Davids L, Diets IJ, Gold NB, Holtz AM, Isidor B, Mor-Shaked H, Neira Fresneda J, Niederhoffer KY, Nizon M, Pfundt R, Simon M, Stegmann A, Guillen Sacoto MJ, Wevers M, Barakat TS, Yanovsky-Dagan S, Atanassov BS, Toth R, Gao C, Bustos F, Harel T. : USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms. Life Sci Alliance. 7(3): e202302258, Jan 2024 Notes: doi: 10.26508/lsa.202302258.
Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E: Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort Mol Genet Metab. 142(4): 108509, Jun 2024 Notes: doi: 10.1016/j.ymgme.2024.108509.
2023
Lin SJ, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK.: Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. Genome Med. 15(1): 102, Nov 2023 Notes: doi: 10.1186/s13073-023-01258-4.
2022
Küry S, Ebstein F, Mollé A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogné B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denommé-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnálková E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA; Undiagnosed Diseases Network, Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Krüger E, Margueron R, Bézieau S, Poschmann J, Isidor B: Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder. Am J Hum Genet. 109(2): 361-372, Feb 2022 Notes: doi: 10.1016/j.ajhg.2021.12.011. Epub 2022 Jan 19.
Swanson MA, Miller K, Young SP, Tong S, Ghaloul-Gonzalez L, Neira-Fresneda J, Schlichting L, Peck C, Gabel L, Friederich MW, Van Hove JLK. : Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia. J Inherit Metab Dis. 45(4): 734-747, Jul 2022 Notes: doi: 10.1002/jimd.12500. Epub 2022 Apr 6.
2021
Huang Y, Sharma R, Feigenbaum A, Lee C, Sahai I, Sanchez Russo R, Neira J, Brooks SS, Jackson KE, Wong D, Cederbaum S, Lacbawan FL, Rowland CM, Tanpaiboon P, Salazar D: Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia. Mol Genet Metab Rep. 27(1): 100735, Mar 2021 Notes: doi: 10.1016/j.ymgmr.2021.100735. eCollection 2021 Jun.
2020
Franciskovich R, Soler-Alfonso C, Neira-Fresneda J, Lupski JR, McCann-Crosby B, Potocki L: Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS Am J Med Genet A. 182(9): 2077-2084, Sep 2020 Notes: doi: 10.1002/ajmg.a.61741. Epub 2020 Jul 13.
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Neira J, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Bhoj EJ : Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients Sci Adv 6(49): eabc9207, Dec 2020 Notes: doi: 10.1126/sciadv.abc9207. Print 2020 Dec.
2018
Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Eng C, Yang Y, Lupski JR, Xiao R, Liu P: Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 21(3): 663-675, Mar 2019 Notes: doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30.
2015
Neira-Fresneda J, Potocki L: Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes J Pediatr Genet. 4(3): 159-167, Sep 2015 Notes: doi: 10.1055/s-0035-1564443. Epub 2015 Sep 28.
Tintani F, Neira J, Ayad B, Medows M : The Role of Imaging in Acute Appendicitis among Children from a Community Hospital Pediatrics & Therapeutics 5(10): 1-4, Dec 2015.
Abstracts (includes Posters and Scientific Presentations)
2024
Weishappel K, Walsh M, Fresneda JN: Snyder-Robinson Syndrome, an ultrarare polyamine multisystemic disorder presenting in a craniofacial clinic. American College of Medical Genetics Conference, Toronto, Canada 2024 Notes: Poster presentation-*Top Rated Abstract.
2023
Crawford S, Sablon E, Rosen A, Fresneda JN: The Impact of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency on the Family Society for Inherited Metabolic Disorders Conference, Salt Lake City, UT Mar 2023 Notes: Poster Presentation.
Murphey K, Fresneda JN: Cholangiocarcinoma, an unrecognized cancer type in GSDIa? Society for Inherited Metabolic Disorders Conference, Salt Lake City, UT Mar 2023 Notes: Poster Presentation.
2022
Swanson MA*, Miller K, Young SP, Tong S, Ghaloul-Gonzalez L, Neira-Fresneda J, Schlichting L, Peck C, Gabel L, Friederich MW, Van Hove JLK: Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia Society for the Study of Inborn Errors of Metabolism Annual Symposium, Freiburg, Germany Sept 2022 Notes: Oral presentation.
Lectures by Invitation
2023
Neira-Fresneda J. "Urea Cycle Disorders" Expert Panelist, eGNA's Genetic Nutrition ECHO Traineeship Meeting, Atlanta, GA. Sept 2023.
Editorials, Reviews, Chapters
2023
Ocampo-Chih C, Dennis H, Lall N, Pham N, Liang B, Verma S, Neira Fresneda J: PEBAT, an Intriguing Neurodegenerative Tubulinopathy Caused by a Novel Homozygous Variant in TBCD: A Case Series and Literature Review. Pediatr Neurol 139(1): 59-64, Feb 2023.
Crawford S, Sablon E, Ali N, Rosen AR, Hall PL, Neira Fresneda J.: Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives Int J Neonatal Screen. 9(4): 53, Oct 2023 Notes: doi: 10.3390/ijns9040053.
2021
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study, Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium, Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. : Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 108(6): 1138-1150, Jun 2021 Notes: doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27.
Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L; CAUSES Study, van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB: Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet. 108(8): 1450-1465, Aug 2021 Notes: doi: 10.1016/j.ajhg.2021.06.003. Epub 2021 Jun 28.
2018
Neira J, Machol K, Sutton VR: Clinical Genetics and Dysmorphology. Diagnostic Algorithms. Rudolph's Pediatrics, 23rd Edition (eds.). 2018 Notes: Chapter 174.
2017
Neira-Fresneda J, Potocki L, Yuan B. : Potocki-Lupski Syndrome. GeneReviews. Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Lora JH Bean, Karen W Gripp, Anne Amemiya (eds.). Aug 2017.
2016
Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. : Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 8: 61-66, July 2016 Notes: doi: 10.1016/j.ymgmr.2016.07.007.