Selected Publications

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.

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.

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.

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.

Neira J, Martinez Duncker I: Tu paciente tiene un desorden congénito de la glicosilación? FCDGC YouTube channel 2023 Notes: https://www.youtube.com/watch?v=wh0replB1Bk.