Selected Publications

Irma Payan-Walters, CRNP; Alyssa L. Rippert, MS, LCGC1; Elizabeth Bhoj, MD, PhD,Abigail Lauko, RD1; Taelyr Mellor,RD; Juanita Neira Fresneda, MD: Hyperammonemia as the First Clue: Dual Diagnosis of Lysinuric Protein Intolerance and a SOX2-Related Disorder in an Infant with Global Developmental Delay. SIMD May 2026 Notes: SIMD abstract and Poster.

Irene J. Chang,Danny E. Miller,Andres Morales Corado, Juanita Neira : "Sepiapterin approved for children and adults with phenylketonuria (PKU): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)" Genetics in Medicine Open April 2026 Notes: In press.

Nicole M. Engelhardt, Parith Wongkittichote, Queenie K.-G. Tan, Bryce Kuschel, Bobby G. Ng, Naseeb Ullah, Lindsey Sawyer, Jonathan Marquez, Katheryn Grand, Juanita Neira, Hong Li, Evgenia Sklirou, Suneeta Madan-Khetarpal, Michelle Allen Sharpley, Christina Lam Alice Basinger, Patrick Frosk, Muhammad Ansar, Isabelle Schrauwen, Suzanne M Leal, Hudson H. Freeze, Eva Morava, Miao He, Andrew C. Edmondson: MAN1B1-CDG: clinical management recommendations from 20 new cases and a comprehensive literature revie. JIMD April 2026 Notes: Under Review

Julia Eisenberg, MS, LCGC, Juanita Neira, MD: Beyond the Panel: Expanding the Differential Diagnosis of Congenital Diarrhea in an Individual with Multiple Congenital Anomalies ACMG March 2026 Notes: ACMG abstract and poster

Christina Lam , Fernando Scaglia , Gerard T Berry , Austin Larson , Kyriakie Sarafoglou , Hans C Andersson , Evgenia Sklirou , Queenie K G Tan , Rodrigo T Starosta , Mustafa Sadek , Lynne Wolfe , Seishu Horikoshi , May Ali , Rita Barone , Teresa Campbell , Irene J Chang , Kiaira Coles , Edward Cook , Erik A Eklund , Nicole M Engelhardt , Mary Freeman , Jennifer Friedman , Debbie Y T Fu , Grace Botzo , Brandy Rawls , Christien Hernandez , Christin Johnsen , Kierstin Keller , Sara Kramer , Bryce Kuschel , Angela Leshinski , Ivan Martinez-Duncker , Gina L Mazza , Saadet Mercimek-Andrews , Bradley S Miller , Karthik Muthusamy , Juanita Neira , Marc C Patterson , Natalie Pogorelc , Lex N Powers , Elizabeth Ramey , Michaela Reinhart, Audrey Squire , Jenny Thies , Jerry Vockley , Hayden Vreugdenhil , Peter Witters , Mehdi Youbi , Aziza Zeighami , Roni Zemet , Andrew C Edmondson , Eva Morava : Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. Molecular Genetics and Metabolism August 2024.

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.

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.

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.

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.

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.