Diagnostic Laboratory

Rasmussen CA, Izdebski M, Paltzer A, Hickey R, Pollard L, Baker J. The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families. Am J Med Genet A. 2026 Apr 12. doi: 10.1002/ajmg.a.70152. Online ahead of print. PMID: 41968348

Mondal AK, Vashisht A, Vashisht V, Sahajpal NS, Omar N, Ananth S, Ahluwalia PK, Farmaha J, Woodall J, Kolhe R. Comprehensive Genomic Profiling for Precision Oncology: Analytical Validation and Clinical Utility in Solid Tumors. Diagnostics (Basel). 2026 Apr 3;16(7):1087. doi: 10.3390/diagnostics16071087. PMID: 41975800

Reyes Barron C, Geiersbach KB, Alomari AK, Deak KL, Golem S, Williams ES, Aypar U, Zou YS, Wei L, Chaubey A, Sahajpal N, Kolhe R, Love TM, Prokop L, Iqbal MA. Clinical Utility of Copy Number Abnormality Analysis in the Evaluation of Melanocytic Lesions for Diagnosis and Prognosis: An Evidence-Based Review from the Cancer Genomics Consortium Working Group for Melanocytic Lesions. Genes (Basel). 2026 Mar 18;17(3):331. doi: 10.3390/genes17030331. PMID: 41898865  Review.

Ramos-Zaldívar HM, Domínguez ESP, Monterroso-Reyes JM, Caballero AYR, Jones JR, Salas-Huenuleo E, Villarroel MFH, Villarroel-Espíndola F, Silva-Jiménez S, Santa Cruz-Flores RE, Jeria CAP, Urriola CRG, Fierro MP. A novel idiopathic transient tubulopathy associated with exercise-induced-seizures: A case report. Epilepsy Behav Rep. 2026 Mar 11;34:100859. doi: 10.1016/j.ebr.2026.100859. eCollection 2026 Jun. PMID: 41908690

Wolfenson Z, Grois G, Hailemeskel RF, Sabaii M, Huryn LA, Zein WM, Lehky T, Thurm A, Joseph L, Baker EH, Vezina G, Hyland K, Pollard L, Macnamara E, Gropman A, Malicdan MC, Gahl WA, Adams DR, Wolfe L. Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder. J Inherit Metab Dis. 2026 Mar;49(2):e70148. doi: 10.1002/jimd.70148.
PMID: 41879269

Sabbagh Q, Cenni C, Haghshenas S, Alessandri JL, Bak M, Bayat A, Barat-Houari M, Brusco A, Busa T, Calaya A, Calvert P, Cormier-Daire V, Coubes C, Duffourd Y, Ferrero GB, Guimier A, Haye D, Hjortshøj TD, Lambert L, Larsen KB, Lauzon-Young C, Lesca G, Chatron N, Levy MA, Lopergolo D, Margot H, McConkey H, Monin P, Morel G, Naudion S, Nizon M, Odent S, Pinson L, Pons L, Putoux A, Rio M, Rossi M, Rouaux L, Rouxel F, Ruiz-Pallares N, Sanchez E, Pagano S, Santorelli FM, Sauvestre C, Schymick JC, Siu VM, Spodenkiewicz M, Tedder M, Tharreau M, Mau-Them FT, Tümer Z, Valenzuela I, Van Gils J, Willems M, Kirchhoff A, Krawitz P, Kerkhof J, Schuurs-Hoeijmakers JHM, Sadikovic B, Geneviève D. DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals. Eur J Hum Genet. 2026 Mar 25. doi: 10.1038/s41431-026-02083-0. Online ahead of print. PMID: 41882293

Piroli GG, Myers R, Holloway L, Hayek A, Linebaugh E, Jones JR, Skinner C, Skinner SA, Frizzell N, Steet R. Characterization of a UQCRC1 variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantation. Mol Genet Metab Rep. 2026 Feb 25;46:101302. doi: 10.1016/j.ymgmr.2026.101302. eCollection 2026 Mar. PMID: 41783485

Payne E, Moffitt BA, Oberman LM, Beamer L, Srikanth S, Cascio LN, Jones K, Jain L, Pauly R, May M, Skinner C, Buchanan C, DuPont BG, Martin RR, Rogers RC, Phelan K, Sarasua SM, Kaufmann WE, Boccuto L. Behavioral Features in Phelan-McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 Individuals. Genes (Basel). 2026 Feb 8;17(2):202. doi: 10.3390/genes17020202.

Musante L, Janos P, Pianigiani G, Cappelli S, Longo A, Alves C, Schwaibold EM, Wagner M, Costain G, Fridriksdottir R, Stefansson K, Sulem P, Lichtenbelt KD, van Binsbergen E, van Jaarsveld RH, Brusco A, Pavinato L, Biamino E, Spano A, Hildebrandt CC, Chan YM, Groopman E, Berkenstadt M, Koboldt D, Williamson R, Brunner HG, Vissers LE, Torring PM, Hao Q, Gelb BD, Goldmuntz E, Reed K, Bedoukian EC, Vecchio D, Salzano E, Piccione M, Zanus C, Mio C, Eichler EE, Wang T, Patterson WG, Butler KM, Piotrowski M, Mercier S, Cogné B, Wentzensen IM, Buratti E, Magistrato A, Faletra F. A novel spliceosomopathy caused by de novo SF3B3 variants. Genome Med. 2026 Feb 19. doi: 10.1186/s13073-026-01610-4. Online ahead of print.

Lee JJ, Lu PN, Dukes-Rimsky L, Jeter C, Colonna MB, Poplawski AB, Arno G, Hallman J, Underwood C, Basu A, Pollard L, Weiss RJ, Steet R, Flanagan-Steet H. Enhanced lysosomal exocytosis and altered growth factor signaling are associated with cartilage pathology in a zebrafish model of MPSIVA. Dis Model Mech. 2026 Jan 26:dmm.052582. doi: 10.1242/dmm.052582. Online ahead of print.

Sabir MS, Hossain MS, Pollard L, Leoyklang P, Huizing M, Gahl WA, Platt FM, Malicdan MCV. Molecular and biochemical insights into dysregulation of glycosphingolipid metabolism in a mouse model of lysosomal free sialic acid storage disorder. Exp Neurol. 2026 Jan 22:115665. doi: 10.1016/j.expneurol.2026.115665. Online ahead of print.

Amendola LM, Coffey AJ, Lowry J, Avecilla J, Malhotra A, Chawla A, Thacker S, Taylor JP, Rajkumar R, Brown CM, Golden-Grant K, Hejja R, Kalista T, Lee JA, Medrano P, Milewski B, Mullen F, Walker A, Huertas-Vazquez A, Longoni M, Robinson K, Perry DL, Hostin D, Ajay SS, Kesari A, Strom SP, Margulies E, Belmont J, Lanfear DE, Taft RJ. Development of a comprehensive cardiovascular disease genetic risk assessment test. Genet Med Open. 2025 Dec 5;4:103482. doi: 10.1016/j.gimo.2025.103482. eCollection 2026.

Furuta Y, Ezell KM, Hamid R, Cogan JD, Cassini TA, Rives L, McMinn A, Shah S, Peltier AC, Layfield S, Fletcher RS, Tedder ML, Louie RJ, Lee JA, Kerkhof J, Rzasa J, Sadikovic B, Al Mamun A, Sheehan JH, Moth CW, Meiler J, Vawter-Lee M, Mendoza-Sengco PM, Holzen JB, Pruthi S, Phillips JA 3rd, Tinker RJ; Undiagnosed Diseases Network. Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses. Mol Genet Genomic Med. 2025 Dec;13(12):e70165. doi: 10.1002/mgg3.70165. PMID: 41407309

Sabir MS, Dobrenis K, Rha AK, Pollard L, Leoyklang P, Marrero M, Ciccone C, Hackbarth ME, Huizing M, Wang RY, Gahl WA, Platt FM, Malicdan MCV. Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder. Mol Genet Metab Rep. 2025 Nov 8;45:101275. doi: 10.1016/j.ymgmr.2025.101275. eCollection 2025 Dec PMID: 41280660

Silva A, Haghshenas S, van der Laan L, Levy MA, Relator R, McConkey H, Kerkhof J, Skinner SA, Faivre L, Lespinasse J, Vitobello A, Valenzuela I, Scheffer IE, Russ-Hall SJ, Myers KA, Tedder ML, Sadikovic B, Cooley Coleman JA. Identification of an episignature for the MEF2C-associated syndrome. Eur J Hum Genet. 2025 Nov 25. doi: 10.1038/s41431-025-01983-x. Online ahead of print. PMID: 41291199

Houdayer C, Rooney K, van der Laan L, Bris C, Alders M, Bahr A, Barcia G, Battault C, Begemann A, Bonneau D, Bonnevalle A, Boughalem A, Bourges A, Bournez M, Bruel AL, Buhas D, Carallis F, Cogné B, Cormier-Daire V, Delanne J, Demaret T, Denommé-Pichon AS, Désir J, Dubourg C, Fradin M, Geneviève D, Goel H, Goldenberg A, Gripp KW, Guichet A, Guimier A, Jacquinet A, Keren B, Legoff L, Levy MA, McConkey H, Mendelsohn BA, Mignot C, Milon V, Nizon M, Oneda B, Pasquier L, Patat O, Philippe C, Procaccio V, Procopio R, Prouteau C, Rambaud T, Rauch A, Relator R, Rondeau S, Santen GWE, Schleit J, Sorlin A, Steindl K, Tedder M, Tessarech M, Mau-Them FT, Trost D, Van der Sluijs PJ, Vincent M, Whalen S, Thauvin-Robinet C, Isidor B, Sadikovic B, Vitobello A, Colin E. ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature. Eur J Hum Genet. 2025 Nov;33(11):1422-1431. doi: 10.1038/s41431-025-01798-w. Epub 2025 Mar 5.

Shay Behrens, Whitney Leet Do, Limin Wang, Mahler Revsine, Evan Maestri, Aleesha Jacob, Ching-Wen Chang, Marshonna Forgues, Atlas Mashayekhi Sardoo, Anuradha Budhu, Josepmaria Argemí, Miguel Sogbe, Bruno Sangro, Tim F Greten, Xin Wei Wang. Pan-microbial serological repertoire as a biomarker of immunotherapy response in hepatocellular carcinoma. J Immunother Cancer. 2025 Oct 20;13(10):e011742. doi: 10.1136/jitc-2025-011742.

Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Õunap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan BO, Honjo RS, Bertola DR, Kim CA, Yusupov R, Mefford HC, Christodoulou J, Lee J, Heath O, Brown NJ, Baker N, Stark Z, Delatycki M, Lake NJ, Zeidler S, Zuurbier L, Maas SM, de Kruiff CC, Rajabi F, Rodan LH, Coury SA, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, Śmigiel R, Underhill H, Dubbs H, Rosen A, Helbig KL, Helbig I, Ruggiero SM, Fitzgerald MP, Kraemer D, Prada CE, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K VR, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke GC, Bamshad MJ, Campeau PM, Lehman A, Hendon LG, Wentzensen IM, Monaghan KG, Chen Y, Szuto A, Cohn RD, Au PYB, Hübner C, Boschann F, Manickam K, Koboldt DC, Rad A, Oprea G, Bachman KK, Seeley AH, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Rothschild A, Ben Zeev B, Margolin A, Morrison J, Dagli A, Stolerman E, Louie RJ, Washington C, Stevens SJC, Heijligers M, Alkuraya FS, Lisfeld J, Neu A, Paoli Monteiro F, Santos Pessoa AL, Camelo-Filho AE, Kok F, Koeberl D, Riley K, Burglen L, Doummar D, Héron B, Mignot C, Keren B, Charles P, Nava C, Bernhard FP, Kühn AA, Thoms S, Morrie RD, Mekhoubad S, Green EM, Barmada SJ, Gitler AD, Jahn O, Rhee JS, Rosenmund C, Mitkovski M, Sticht H, Sun H, Le Gac G, Taschenberger H, Brose N, Dittman JS, Rauch A, Lipstein N. Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function. Nat Genet. 2025 Oct 22. doi: 10.1038/s41588-025-02361-5. Online ahead of print.

Castro Moreira ML, Montenegro YHA, Salatino-Oliveira A, Montano HQ, Bareiro RFN, Santos-Lopes SSD, Silva TRD, Azevedo LKS, Silva KBLD, Moreira AWA, Araujo SS, Kubaski F, Trapp FB, Brusius-Facchin AC, Sebastião FM, Michelin-Tirelli K, Baldo G, Giugliani R, Palhares D. Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador. Diagnostics (Basel). 2025 Sep 15;15(18):2337. doi: 10.3390/diagnostics15182337.

Peng X, Jia X, Wang H, Chen J, Zhang X, Tan S, Duan X, Qiu C, Hu M, Hou H, Parenti I, Kuechler A, Kaiser FJ, Renck A, Caylor R, Skinner C, Peeden J, Cogne B, Isidor B, Mercier S, Nicolas G, Guerrot AM, Faletra F, Musante L, Cohen L, Bergant G, Čuturilo G, Peterlin B, Seeley A, Bachman K, Martinez-Agosto JA, van Ravenswaaij-Arts C, Bos D, Kim KH, Bartolomaeus T, Schmederer Z, Abou Jamra R, Aref-Eshghi E, Zhao W, Zou Y, Hu Z, Pan Q, Li F, Chen G, Li J, Hu Z, Xia K, Tan J, Guo H. Disrupting Integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development. J Clin Invest. 2025 Sep 18:e191729. doi: 10.1172/JCI191729. Online ahead of print.

Colonna MB, Poplawski AB, Brzoska MN, Le D, Rudy NL, Butler KM, Patterson WG, Washington CC, Stolerman E, Xu L, Arno G, Steet R. Expansion of genotype/phenotype correlation in an individual with compound heterozygous variants in CYP51A1 and congenital cataract. Mol Genet Metab. 2025 Sep 2;146(1-2):109230. doi: 10.1016/j.ymgme.2025.109230. Online ahead of print.

Sabir MS, Pollard L, Wolfe L, Adams DR, Ciccone C, Leoyklang P, Platt FM, Huizing M, Gahl WA, Malicdan MCV. Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder. JIMD Rep. 2025 Jun 16;66(4):e70029. doi: 10.1002/jmd2.70029. eCollection 2025 Jul. Free PMC article.

Du Q, Cherian A, Louie RJ, Barcia G, Rudy N, Nabbout R, Sarda E, Charpie M, Patterson WG, Keegan LP, O’Connell MA. Novel ADAR2 variants in children with seizures, intellectual disability and motor delay have reduced RNA editing. RNA. 2025 Jun 6:rna.080600.125. doi: 10.1261/rna.080600.125. Online ahead of print.

Washington CC, M De Leon K, Cooley Coleman JA, Patterson WG, Lyons MJ. Call for neurofibromatosis specialty care clinics in South Carolina. J Community Genet. 2025 May 31. doi: 10.1007/s12687-025-00803-5. Online ahead of print.

Shaff A, Basheeruddin K, Bekri S, Brown HA, Church HJ, Gianares J, Hong X, Jones SA, Kappell T, Kubaski F, Oliva P, Orsini J, Tebani A, Wu THY, Lalic G, Gelb MH. Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots. Mol Genet Metab. 2025 May 18;145(3):109138. doi: 10.1016/j.ymgme.2025.109138. Online ahead of print.

Guzman SG, Ruggiero SM, Ganesan S, Ellis CA, Harrison AG, Sullivan KR, Stark Z, Brown NJ, Kana SL, Tuttle A, Tenorio J, Lapunzina P, Nevado J, McDonald MT, Jensen C, Wheeler PG, Stange L, Morrison J, Keren B, Heide S, Keating MW, Butler KM, Lyons MA, Jain S, Yeganeh M, Thompson ML, Schroeder M, Nguyen H, Granadillo J, Johnston KM, Murali CN, Bosanko K, Burrow TA; CHOP Birth Defects Biorepository; Penn Medicine BioBank; Morgan S, Watson DJ, Hakonarson H, Helbig I. Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range. Am J Hum Genet. 2025 May 16:S0002-9297(25)00172-7. doi: 10.1016/j.ajhg.2025.04.011. Online ahead of print.

Yu SH, Pollard L, Flanagan-Steet H, Steet R. Combining clinically benign IDUA variants in cis reduces enzymatic activity of the resulting enzyme within the pathogenic range. Mol Genet Metab. 2025 May 3;145(2):109131. doi: 10.1016/j.ymgme.2025.109131. Online ahead of print.

Leung ML, Caylor RC, D’Annibale O, McClure M, Narumanchi T, Sack LM, South ST; ACMG Advocacy; ACMG Advocacy and Government Affairs Committee. A primer on regulation of laboratory-developed testing procedures: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). 2025 May 2:101391. doi: 10.1016/j.gim.2025.101391.

Wilcox EH, Webb RF, Tshering KC, Hughes MY, Cavé H, DiStefano MT, Dziadzio H, Garber K, Gelb BD, Gripp KW, Ichikawa S, Lee JA, McCurry H, Tartaglia M, Williams B, Zenker M, Vincent LM, Mason-Suares H; ClinGen RASopathy Expert Panel. Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels. Genet Med Open. 2025 Apr 17;3:103430. doi: 10.1016/j.gimo.2025.103430. eCollection 2025.

Madison A, Applegate C, Stinnett V, Miranda DM, Cross C, Vaught KC, Zou YS, Murry JB. Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution. Sci Rep. 2025 Apr 14;15(1):12836. doi: 10.1038/s41598-025-89843-y

Sahajpal NS, Dean J, Hilton B, Fee T, Skinner C, Hastie A, DuPont BR, Chaubey A, Friez MJ, Stevenson RE. Optical genome mapping identifies rare structural variants in neural tube defects. Genome Res. 2025 Mar 19. doi: 10.1101/gr.279318.124. Online ahead of print.

Sabir MS, Hossain MS, Pollard L, Huizing M, Gahl WA, Platt FM, Malicdan MCV. Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson’s disease. Biochem Biophys Rep. 2025 Mar 14;42:101979. doi: 10.1016/j.bbrep.2025.101979. eCollection 2025 Jun. PMID: 40144541

Guillouet C, Agostini V, Baujat G, Cocciadiferro D, Pippucci T, Lesieur-Sebellin M, Georget M, Schatz U, Fauth C, Louie RJ, Rogers C, Davis JM, Konstantopoulou V, Mayr JA, Bouman A, Wilke M, VanNoy GE, England EM, Park KL, Brown K, Saenz M, Novelli A, Digilio MC, Mastromoro G, Rongioletti MCA, Piacentini G, Kaiyrzhanov R, Guliyeva S, Hasanova L, Shears D, Bhatnagar I, Stals K, Klaas O, Horvath J; University of Washington Center for Mendelian Genomics; Bouvagnet P, Witmer PD, MacCarrick G, Cisarova K, Good JM, Gorokhova S, Boute O, Smol T, Bruel AL, Patat O, Broadbent JR, Tan TY, Tan NB, Lyonnet S, Busa T, Graziano C, Amiel J, Gordon CT. Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations. Am J Hum Genet. 2025 Mar 11:S0002-9297(25)00063-1. doi: 10.1016/j.ajhg.2025.02.016. Online ahead of print.

Houdayer C, Rooney K, van der Laan L, Bris C, Alders M, Bahr A, Barcia G, Battault C, Begemann A, Bonneau D, Bonnevalle A, Boughalem A, Bourges A, Bournez M, Bruel AL, Buhas D, Carallis F, Cogné B, Cormier-Daire V, Delanne J, Demaret T, Denommé-Pichon AS, Désir J, Dubourg C, Fradin M, Geneviève D, Goel H, Goldenberg A, Gripp KW, Guichet A, Guimier A, Jacquinet A, Keren B, Legoff L, Levy MA, McConkey H, Mendelsohn BA, Mignot C, Milon V, Nizon M, Oneda B, Pasquier L, Patat O, Philippe C, Procaccio V, Procopio R, Prouteau C, Rambaud T, Rauch A, Relator R, Rondeau S, Santen GWE, Schleit J, Sorlin A, Steindl K, Tedder M, Tessarech M, Mau-Them FT, Trost D, Van der Sluijs PJ, Vincent M, Whalen S, Thauvin-Robinet C, Isidor B, Sadikovic B, Vitobello A, Colin E. ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature. Eur J Hum Genet. 2025 Mar 5. doi: 10.1038/s41431-025-01798-w. Online ahead of print.

Lu PN, Melton C, Dupont B, Jones JR, Abidi F, Rose A, Patterson WG, Lyons MJ, Flanagan-Steet H. Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability. Clin Genet. 2025 Feb 23. doi: 10.1111/cge.14732. Online ahead of print.

Cooley Coleman JA, Moffitt BA, Bridges WC, Jones K, May M, Skinner C, Friez MJ, Skinner SA, Schwartz CE, Boccuto L. A novel approach to metabolic profiling in case models of MECP2-related disorders. Metab Brain Dis. 2025 Feb 13;40(2):124. doi: 10.1007/s11011-025-01546-5. PMCID: PMC11825590.

Guzman SG, Ruggiero SM, Ganesan S, Ellis CA, Harrison AG, Sullivan KR, Stark Z, Brown NJ, Kana SL, Tuttle A, Tenorio J, Lapunzina P, Nevado J, McDonald MT, Jensen C, Wheeler PG, Stange L, Morrison J, Keren B, Heide S, Keating MW, Butler KM, Lyons MJ, Jain S, Yeganeh M, Thompson ML, Schroeder M, Nguyen H, Granadillo J, Johnston KM, Murali CN, Bosanko K, Burrow TA; CHOP Birth Defects Biorepository, Penn Medicine Biobank; Morgan S, Watson DJ, Hakonarson H, Helbig I. Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range. medRxiv [Preprint]. 2025 Feb 12:2025.02.10.25321755. doi: 10.1101/2025.02.10.25321755.

Chapin J, Sadikovic B, Kerkhof J, Schwartz CE, Stevenson RE, Skinner C, May M, Friez M, Lebel RR. A novel KDM5C variant corrects a previously erroneous diagnosis. Eur J Med Genet. 2025 Feb 1:104997. doi: 10.1016/j.ejmg.2025.104997. Online ahead of print.

Karimi K, Lichtenstein Y, Reilly J, McConkey H, Relator R, Levy MA, Kerkhof J, Bouman A, Symonds JD, Ghoumid J, Smol T, Clarkson K, Drazba K, Louie RJ, Miranda V, McCann C, Motta J, Lancaster E, Sallevelt S, Sidlow R, Morrison J, Hannibal M, O’Shea J, Marin V, Prasad C, Patel C, Raskin S, Maria-Noelia SM, Diaz de Bustamante A, Marom D, Barkan T, Keren B, Poirsier C, Cohen L, Colin E, Gorman K, Gallant E, Menke LA, Valenzuela Palafoll I, Hauser N, Wentzensen IM, Rankin J, Turnpenny PD, Campeau PM, Balci TB, Tedder ML, Sadikovic B, Weiss K. Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome. Am J Hum Genet. 2025 Jan 15:S0002-9297(24)00463-4. doi: 10.1016/j.ajhg.2024.12.020. Online ahead of print.

van der Sluijs PJ, Moutton S, Dingemans AJM, Weis D, Levy MA, Boycott KM, Arberas C, Baldassarri M, Beneteau C, Brusco A, Coutton C, Dabir T, Dentici ML, Devriendt K, Faivre L, van Haelst MM, Jizi K, Kempers MJ, Kerkhof J, Kharbanda M, Lachlan K, Marle N, McConkey H, Mencarelli MA, Mowat D, Niceta M, Nicolas C, Novelli A, Orlando V, Pichon O, Rankin J, Relator R, Ropers FG, Rosenfeld JA, Sachdev R, Sandaradura SA, Shukarova-Angelovska E, Steenbeek D, Tartaglia M, Tedder MA, Trajkova S, Winer N, Woods J, de Vries BBA, Sadikovic B, Alders M, Santen GWE. Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy. Genet Med. 2025 Jan;27(1):101283. doi: 10.1016/j.gim.2024.101283. Epub 2024 Sep 28.

Sabir MS, Dobrenis K, Rha AK, Pollard L, Leoyklang P, Marrero M, Ciccone C, Hackbarth ME, Huizing M, Wang RY, Gahl WA, Platt FM, Malicdan MCV. Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder. Mol Genet Metab Rep. 2025 Nov 8;45:101275. doi: 10.1016/j.ymgmr.2025.101275. eCollection 2025 Dec. PMID: 41280660

Yu SH, Kubaski F, Arno G, Phinney W, Wood TC, Flanagan-Steet H, Pollard LM, Steet R. Functional assessment of IDUA variants of uncertain significance identified by newborn screening. NPJ Genom Med. 2024 Dec 19;9(1):68. doi: 10.1038/s41525-024-00457-1. PMID: 39702574

Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P, Fradin M, Pasquier L, Guella I, Hickey SE, Benke PJ, Shillington A, Kumps C, Vanakker O, Gerkes EH, Lakhani S, Romanova I, Kanivets I, Brugger M, Vill K, Caylor RC, Skinner C, Tinker RJ, Stödberg T, Nümann A, Haack TB, Deininger N, Hengel H, Jury J, Conrad S, Mercier S, Yoon G, Tsuboyama M, Barcia G, Gitiaux C, Rio M, Bevot A, Redon S, Uguen K, Wonneberger A, Schulz A, Timmann D, Karlowicz DH, Chatron N, Carnevale A, Mahida S, Õunap K, Kury S, Cabet S, Lesca G. RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures. Genet Med. 2024 Dec 17:101347. doi: 10.1016/j.gim.2024.101347. Online ahead of print. PMID: 39707840

Herbst ZM, Kubaski F, Pollard L, Basheeruddin K, Burton B, Orsini J, Henderson M, Chakraborty P, Gelb MH. High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis. Mol Genet Metab. 2024 Nov 18:108612. doi: 10.1016/j.ymgme.2024.108612. Online ahead of print. PMID: 39645522

Singh H, Sahajpal NS, Gupta V, Farmaha J, Vashisht A, Mondal AK, Kolhe R. Optical genome mapping identifies hidden structural variation in acute myeloid leukemia: Two case reports. Hematol Transfus Cell Ther. 2024 Nov 8:S2531-1379(24)02833-5. doi: 10.1016/j.htct.2024.06.011. Online ahead of print. PMID: 39572303

Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, de Dunnen J, Hassanin E, Lin WL, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau E, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capellá G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS. Am J Hum Genet. 2024 Nov 7;111(11):2427-2443. doi: 10.1016/j.ajhg.2024.09.002. PMID: 39357517

Sharer JD, Huang R, Wood T, Huffman P, Yan Y, Zimmerman C, Pollard L. Analysis of Free Oligosaccharides in Urine by High-Performance Liquid Chromatography-Tandem Mass Spectrometry. Curr Protoc. 2024 Nov;4(11):e70055. doi: 10.1002/cpz1.70055. PMID: 39575507

Sabir MS, Leoyklang P, Hackbarth ME, Pak E, Dutra A, Tait R, Pollard L, Adams DR, Gahl WA, Huizing M, Malicdan MCV. Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD). 2024 Oct 22;81:103600. doi: 10.1016/j.scr.2024.103600. Online ahead of print. PMID: 39461116

Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, de Dunnen J, Hassanin E, Lin WL, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau E, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capellá G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS. Am J Hum Genet. 2024 Sep 26:S0002-9297(24)00337-9. doi: 10.1016/j.ajhg.2024.09.002. Online ahead of print. PMID: 39357517

Chettle J, Louie RJ, Larner O, Best R, Chen K, Morris J, Dedeic Z, Childers A, Rogers RC, DuPont BR, Skinner C, Küry S, Uguen K, Planes M, Monteil D, Li M, Eliyahu A, Greenbaum L, Mor N, Besnard T, Isidor B, Cogné B, Blesson A, Comi A, Wentzensen IM, Vuocolo B, Lalani SR, Sierra R, Berry L, Carter K, Sanders SJ, Blagden SP. LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder. HGG Adv. 2024 Aug 23:100345. doi: 10.1016/j.xhgg.2024.100345. Epub ahead of print. PMID: 39182167.

German RJ, Vuocolo B, Vossaert L, Saba L, Fletcher R, Tedder ML, Sadikovic B, Kerkhof J, Wangler M, Bacino CA; Texome Project. Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha. Am J Med Genet A. 2024 Aug 21:e63849. doi: 10.1002/ajmg.a.63849. Online ahead of print. PMID: 39166703

Cardoso-Dos-Santos AC, Mariath LM, Trapp F, Facchin ACB, Leistner S, Kubaski F, Giugliani R, Schuler-Faccini L, Ribeiro EM. The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil). J Community Genet. 2024 Aug 19. doi: 10.1007/s12687-024-00718-7. Epub ahead of print. PMID: 39158768

LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Allan TJ, Zalusky MP, Goffena J, Gibson SB, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel MN, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Gupta S, Jones EA, Weisz-Hubshman M, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nat Commun. 2024 Aug 6;15(1):6524. doi: 10.1038/s41467-024-50159-6. PMID: 39107278

Missense variants in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions. Monnens Y, Theodoropoulou A, Rosier K, Bhalla K, Mahy A, Vanhoutte R, Meulemans S, Cavani E, Antanasijevic A, Lemmens I, Lee JA, Spellicy CJ, Schroer RJ, Maselli RA, Laverty CG, Agostinis P, Pagliarini DJ, Verhelst S, Marcaida MJ, Rochtus A, Dal Peraro M, Creemers JW. JCI Insight. 2024 Jul 30:e179276. doi: 10.1172/jci.insight.179276. Online ahead of print. PMID: 39078710

Singh H, Sahajpal NS, Mondal AK, Burke SL, Farmaha J, Alptekin A, Vashisht A, Jones K, Vashisht V, Kolhe R. Clinical Utility of Optical Genome Mapping for Improved Cytogenomic Analysis of Gliomas. Biomedicines. 2024 Jul 25;12(8):1659. doi: 10.3390/biomedicines12081659. PMID: 39200124

Haghshenas S, Karimi K, Stevenson RE, Levy MA, Relator R, Kerkhof J, Rzasa J, McConkey H, Lauzon-Young C, Balci TB, White-Brown AM, Carter MT, Richer J, Armour CM, Sawyer SL, Bhola PT, Tedder ML, Skinner CD, van Rooij IALM, van de Putte R, de Blaauw I, Koeck RM, Hoischen A, Brunner H, Esteki MZ, Pelet A, Lyonnet S, Amiel J, Boycott KM, Sadikovic B. Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations. Am J Hum Genet. 2024 Jul 24:S0002-9297(24)00247-7. doi: 10.1016/j.ajhg.2024.07.005. Online ahead of print. PMID: 39089258

Levy B, Liu J, Iqbal MA, DuPont B, Sahajpal N, Ho M, Yu J, Brody SJ, Ganapathi M, Rajkovic A, Smolarek TA, Boyar F, Bui P, Dubuc AM, Kolhe R, Stevenson RE. Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing. J Mol Diagn. 2024 Jul 18:S1525-1578(24)00157-0. doi: 10.1016/j.jmoldx.2024.06.006. Online ahead of print. PMID: 39032820

Guess T, Wheeler FC, Yenemandra A, Schilit SLP, Anderson HS, Bone KM, Carstens B, Conlin L, Dulik MC, Dupont BR, Fanning E, Gardner JA, Haag M, Hilton BA, Johnson J, Kogan J, Murry J, Polonis K, Quigley DI, Repnikova EA, Rowsey RA, Spinner N, Stoeker M, Thurston V, Wiley M, Zhang L. A multi-center analysis of individuals with a 47,XXY/46,XX karyotype. Genet Med. 2024 Jul 13:101212. doi: 10.1016/j.gim.2024.101212. Epub ahead of print. PMID: 39011769

Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O’Shea J, Lederer D, Fleischer J, O’Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. Am J Hum Genet. 2024 Jul 9:S0002-9297(24)00214-3. doi: 10.1016/j.ajhg.2024.06.008. Online ahead of print. PMID: 39013458

Bosman W, Butler KM, Chang CA, Ganapathi M, Guzman E, Latta F, Chung WK, Claverie-Martin F, Davis JM, Hoenderop JGJ, de Baaij JHF. Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay. Clin Kidney J. 2024 Jul 5;17(8):sfae211. doi: 10.1093/ckj/sfae211. PMID: 39099563

Sarli C, van der Laan L, Reilly J, Trajkova S, Carli D, Brusco A, Levy MA, Relator R, Kerkhof J, McConkey H, Tedder ML, Skinner C, Alders M, Henneman P, Hennekam RCM, Ciaccio C, D’Arrigo S, Vitobello A, Faivre L, Weber S, Vincent-Devulder A, Perrin L, Bourgois A, Yamamoto T, Metcalfe K, Zollino M, Kini U, Oliveira D, Sousa SB, Williams D, Cappuccio G, Sadikovic B, Brunetti-Pierri N. Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. Am J Med Genet C Semin Med Genet. 2024 Jun 17:e32089. doi: 10.1002/ajmg.c.32089. Epub ahead of print. PMID: 38884529.

Bloomquist R, Mondal AK, Vashisht A, Sahajpal N, Jones K, Vashisht V, Singh H, Farmaha J, Kolhe R Viruses. Gene Regulatory Network Analysis of Post-Mortem Lungs Unveils Novel Insights into COVID-19 Pathogenesis. 2024 May 27;16(6):853. doi: 10.3390/v16060853. PMID: 38932146.

Amendola LM, Coffey AJ, Lowry J, Avecilla J, Malhotra A, Chawla A, Thacker S, Taylor JP, Rajkumar R, Brown CM, Golden-Grant K, Hejja R, Lee JA, Medrano P, Milewski B, Mullen F, Walker A, Huertez-Vasquez A, Longoni M, Perry DL, Hostin D, Ajay SS, Kesari A, Strom SP, Margulies E, Belmont J, Lanfear DE, Taft RJ. Development of a comprehensive cardiovascular disease genetic risk assessment test. medRxiv [Preprint]. 2024 May 9:2024.05.06.24306379. doi: 10.1101/2024.05.06.24306379. PMID: 38766118; PMCID: PMC11100944

Brakta S, Du Q, Chorich LP, Hawkins ZA, Sullivan ME, Ko EK, Kim HG, Knight J, Taylor HS, Friez M, Phillips JA 3rd, Layman LC. Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. Mol Cell Endocrinol. 2024 Aug 1;589:112237. doi: 10.1016/j.mce.2024.112237. Epub 2024 Apr 8. PMID: 38599276

Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Abou Jamra R, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen GÅM, Smeland MF, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, McCormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanpää MK, Pohjola P, Arikka H, Kievit AJA, Calandrini C, Iseli C, Guex N, Reymond A. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. Genome Med. 2024 May 30;16(1):72. doi: 10.1186/s13073-024-01339-y. PMID: 38811945

Vos N, Haghshenas S, van der Laan L, Russel PKM, Rooney K, Levy MA, Relator R, Kerkhof J, McConkey H, Maas SM, Vissers LELM, de Vries BBA, Pfundt R, Elting MW, van Hagen JM, Verbeek NE, Jongmans MCJ, Lakeman P, Rumping L, Bosch DGM, Vitobello A, Thauvin-Robinet C, Faivre L, Nambot S, Garde A, Willems M, Genevieve D, Nicolas G, Busa T, Toutain A, Gérard M, Bizaoui V, Isidor B, Merla G, Accadia M, Schwartz CE, Ounap K, Hoffer MJV, Nezarati MM, van den Boogaard MH, Tedder ML, Rogers C, Brusco A, Ferrero GB, Spodenkiewicz M, Sidlow R, Mussa A, Trajkova S, McCann E, Mroczkowski HJ, Jansen S, Donker-Kaat L, Duijkers FAM, Stuurman KE, Mannens MMAM, Alders M, Henneman P, White SM, Sadikovic B, van Haelst MM. The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes. Hum Genet. 2024 May 24. doi: 10.1007/s00439-024-02679-w. Epub ahead of print. PMID: 38787418.

Merritt JK, Fang X, Caylor RC, Skinner SA, Friez MJ, Percy AK, Neul JL. Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome. Genes (Basel). 2024 May 8;15(5):594. doi: 10.3390/genes15050594. PMID: 38790223

Bhat S, Rousseau J, Michaud C, Lourenço CM, Stoler JM, Louie RJ, Clarkson LK, Lichty A, Koboldt DC, Reshmi SC, Sisodiya SM, Hoytema van Konijnenburg EMM, Koop K, van Hasselt PM, Démurger F, Dubourg C, Sullivan BR, Hughes SS, Thiffault I, Tremblay ES, Accogli A, Srour M, Blunck R, Campeau PM. Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation. Am J Hum Genet. 2024 Mar 13:S0002-9297(24)00046-6. doi: 10.1016/j.ajhg.2024.02.014. Online ahead of print. PMID: 38503299

Li JH, Zhou A, Lee CD, Shah SN, Ji JH, Senthilkumar V, Padilla ET, Ball AB, Feng Q, Bustillos CG, Riggan L, Greige A, Divakaruni AS, Annese F, Cooley-Coleman J, Skinner SA, Cowan CW, O’Sullivan TE. MEF2C regulates NK cell effector functions through control of lipid metabolism. Nat Immunol. 2024 Apr 8. doi: 10.1038/s41590-024-01811-2. Online ahead of print. PMID: 38589619

Vernet Machado Bressan Wilke M, Iop GD, Faqueti L, Lemos da Silva LA, Kubaski F, Poswar FO, Michelin-Tirelli K, Randon D, Borelli WV, Giugliani R, Schwartz IVD. A Brazilian Rare-Disease Center’s Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF. Int J Mol Sci. 2024 Mar 1;25(5):2870. doi: 10.3390/ijms25052870. PMID: 38474117.

Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles EJ, Louie RJ, Lebel RR, Le TL, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE. TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nat Commun. 2024 Feb 22;15(1):1640. doi: 10.1038/s41467-024-45948-y. PMID: 38388531

Yang Y, Wang J, Wan J, Cheng Q, Cheng Z, Zhou X, Wang O, Shi K, Wang L, Wang B, Zhu X, Chen J, Feng D, Liu Y, Jahan-Mihan Y, Haddock AN, Edenfield BH, Peng G, Hohenstein JD, McCabe CE, O’Brien DR, Wang C, Ilyas SI, Jiang L, Torbenson MS, Wang H, Nakhleh RE, Shi X, Wang Y, Bi Y, Gores GJ, Patel T, Ji B. Deficiency Induces an Extrahepatic Cholangitis-Cholangiocarcinoma Continuum via Aurora kinase A in Mice. J Hepatol. 2024 Feb 28:S0168-8278(24)00138-7. doi: 10.1016/j.jhep.2024.02.018. Epub ahead of print. PMID: 38428643.

Lee JJ, Wang T, Wiggins K, Lu PN, Underwood C, Ochenkowska K, Samarut E, Pollard LM, Flanagan-Steet H, Steet R. Dysregulated lysosomal exocytosis drives protease-mediated cartilage pathogenesis in multiple lysosomal disorders. iScience. 2024 Feb 21;27(4):109293. doi: 10.1016/j.isci.2024.109293. PMID: 38495824; PMCID: PMC10940929.

Deignan JL, Aggarwal V, Bale AE, Bellissimo DB, Booker JK, Cao Y, Crooks KR, Deak KL, Del Gaudio D, Funke B, Hoppman NL, Horner V, Hufnagel RB, Jackson-Cook C, Koduru P, Leung ML, Li S, Liu P, Luo M, Mao R, Mason-Suares H, Mikhail FM, Moore SR, Naeem RC, Pollard LM, Repnikova EA, Shao L, Shaw BM, Shetty S, Smolarek TA, Spiteri E, Van Ziffle J, Vance GH, Vnencak-Jones CL, Williams ES. The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors.  Genet Med Open. 2024;2:101820. doi: 10.1016/j.gimo.2024.101820. Epub 2024 Feb 1. PMID: 39175871

Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Jamra RA, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen GÅM, Falkenberg Smeland M, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, Mccormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanpää MK, Pohjola P, Arikka H, Iseli C, Guex N, Reymond A. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. medRxiv [Preprint]. 2024 Jan 17:2024.01.14.24301100. doi: 10.1101/2024.01.14.24301100. PMID: 38293053; PMCID: PMC10827271.

Montanaro FAM, Mandarino A, Alesi V, Schwartz C, Sepulveda DJC, Skinner C, Friez M, Piccolo G, Novelli A, Zanni G, Dentici ML, Vicari S, Alfieri P. PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports. Front Psychiatry. 2024 Jan 15;14:1327802. doi: 10.3389/fpsyt.2023.1327802. PMID: 38288059; PMCID: PMC10823004.

Levy B, Kanagal-Shamanna R, Sahajpal NS, Neveling K, Rack K, Dewaele B, Olde Weghuis D, Stevens-Kroef M, Puiggros A, Mallo M, Clifford B, Mantere T, Hoischen A, Espinet B, Kolhe R, Solé F, Raca G, Smith AC. A framework for the clinical implementation of optical genome mapping in hematologic malignancies. Am J Hematol. 2024 Jan 2. doi: 10.1002/ajh.27175. Epub ahead of print. PMID: 38164980.

Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A Levy, Matthew L Tedder, Raymond J Louie, Robin S Fletcher, Hannah W Moore, Anna Childers, Ellyn R Farrelly, Neena L Champaigne, Michael J Lyons, David B Everman, R Curtis Rogers, Steven A Skinner, Alicia Renck, Dena R Matalon, Shelley K Dills, Berrin Monteleone, Serwet Demirdas, Alexander J M Dingemans, Laura Donker Kaat, Sharon M Kolk, Rolph Pfundt, Patrick Rump, Bekim Sadikovic, Tjitske Kleefstra, Kameryn M Butler. DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency. Genet Med. 2022 Nov 17;S1098-3600(22)00973-X. doi: 10.1016/j.gim.2022.10.004. Online ahead of print. PMID: 36399132; DOI: 10.1016/j.gim.2022.10.004

van Jaarsveld RH, Reilly J, Cornips MC, Hadders MA, Agolini E, Ahimaz P, Anyane-Yeboa K, Bellanger SA, van Binsbergen E, van den Boogaard MJ, Brischoux-Boucher E, Caylor RC, Ciolfi A, van Essen TAJ, Fontana P, Hopman S, Iascone M, Javier MM, Kamsteeg EJ, Kerkhof J, Kido J, Kim HG, Kleefstra T, Lonardo F, Lai A, Lev D, Levy MA, Lewis MES, Lichty A, Mannens MMAM, Matsumoto N, Maya I, McConkey H, Megarbane A, Michaud V, Miele E, Niceta M, Novelli A, Onesimo R, Pfundt R, Popp B, Prijoles E, Relator R, Redon S, Rots D, Rouault K, Saida K, Schieving J, Tartaglia M, Tenconi R, Uguen K, Verbeek N, Walsh CA, Yosovich K, Yuskaitis CJ, Zampino G, Sadikovic B, Alders M, Oegema R. Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature. Genet Med. 2022 Nov 1:S1098-3600(22)00942-X. doi: 10.1016/j.gim.2022.09.006. Online ahead of print. PMID: 36322151

Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Hum Mutat. 2022 Jul 29. doi: 10.1002/humu.24446. PMID: 35904121

Sahajpal NS, Mondal AK, Ananth S, Pundkar C, Jones K, Williams C, Fee T, Weissman A, Tripodi G, Oza E, Gavrilova-Jordan L, Omar N, Hastie AR, DuPont BR, Layman L, Chaubey A, Kolhe R. Optical Genome Mapping and Single Nucleotide Polymorphism Microarray: An Integrated Approach for Investigating Products of Conception. Genes (Basel). 2022 Apr 3;13(4):643. doi: 10.3390/genes13040643. PMID: 35456449

Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D, Monin P, Odent S, Philippe C, Rouxel F, Saletti V, Strømme P, Thulin PC, Sadikovic B, Genevieve D. DNA methylation episignature in Gabriele-de Vries syndrome. Genet Med. 2022 Jan 10:S1098-3600(21)05422-8. doi: 10.1016/j.gim.2021.12.003. Online ahead of print. PMID: 35027293

Karimi K, Mol MO, Haghshenas S, Relator R, Levy MA, Kerkhof J, McConkey H, Brooks A, Zonneveld-Huijssoon E, Gerkes EH, Tedder ML, Vissers L, Salzano E, Piccione M, Asaftei SD, Carli D, Mussa A, Shukarova-Angelovska E, Trajkova S, Brusco A, Merla G, Alders MM, Bouman A, Sadikovic B. Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene. Genet Med. 2023 Dec 3:101041. doi: 10.1016/j.gim.2023.101041Epub ahead of print. PMID: 38054406.

Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, Dufour W, Edery P, Fong CT, Fusco C, Gatinois V, Gouy E, Guerrot AM, Heide S, Joshi A, Karp N, Keren B, Lesieur-Sebellin M, Levy J, Levy MA, Lozano C, Lyonnet S, Margot H, Marzin P, McConkey H, Michaud V, Nicolas G, Nizard M, Paulet A, Peluso F, Pernin V, Perrin L, Philippe C, Prasad C, Prasad M, Relator R, Rio M, Rondeau S, Ruault V, Ruiz-Pallares N, Sanchez E, Shears D, Siu VM, Sorlin A, Tedder M, Tharreau M, Mau-Them FT, van der Laan L, Van Gils J, Verloes A, Whalen S, Willems M, Yauy K, Zuntini R, Kerkhof J, Sadikovic B, Geneviève D. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals. Genet Med. 2023 Oct 17:101007. doi: 10.1016/j.gim.2023.101007. Epub ahead of print. PMID: 37860968.

Sahajpal NS, Mondal AK, Hastie A, Chaubey A, Kolhe R. Optical Genome Mapping for Oncology Applications. Curr Protoc. 2023 Oct;3(10):e910. doi: 10.1002/cpz1.910. PMID: 37888957

Sahajpal NS, Mondal AK, Vashisht A, Singh H, Pang AWC, Saul D, Nivin O, Hilton B, DuPont BR, Kota V, Savage NM, Hastie AR, Chaubey A, Kolhe R. Optical Genome Mapping: Integrating Structural Variations for Precise Homologous Recombination Deficiency Score Calculation. Genes (Basel). 2023 Aug 25;14(9):1683. doi: 10.3390/genes14091683. PMID: 37761823.

Nikhil Shri Sahajpal, Ashis K Mondal, Harmanpreet Singh, Ashutosh Vashisht, Sudha Ananth, Daniel Saul, Alex R Hastie, Benjamin Hilton, Barbara R DuPont, Natasha M Savage, Vamsi Kota, Alka Chaubey, Jorge E Cortes, Ravindra Kolhe. Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers. Cancers (Basel). 2023 Jun 16;15(12):3214. doi: 10.3390/cancers15123214. PMID: 37370824 DOI: 10.3390/cancers15123214

Niels Vos, Jack Reilly, Mariet W Elting, Philippe M Campeau, David Coman, Zornitza Stark, Tiong Yang Tan, David J Amor, Simran Kaur, Miya St John, Angela T Morgan, Benjamin A Kamien, Chirag Patel, Matthew L Tedder, Giuseppe Merla, Paolo Prontera, Marco Castori, Kai Muru, Felicity Collins, John Christodoulou, Janine Smith, Bruria Ben Zeev, Alessandra Murgia, Emanuela Leonardi, Natacha Esber, Antonio Martinez-Monseny, Didac Casas-Alba, Matthew Wallis, Marcel Mannens, Michael A Levy, Raissa Relator, Marielle Alders, Bekim Sadikovic. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/ KAT6B variants. Epigenomics. 2023 May 30. doi: 10.2217/epi-2023-0079. Online ahead of print. PMID: 37249002  DOI: 10.2217/epi-2023-0079

Haghshenas S, Foroutan A, Bhai P, Levy MA, Relator R, Kerkhof J, McConkey H, Skinner CD, Caylor RC, Tedder ML, Stevenson RE, Sadikovic B, Schwartz CE. Identification of a DNA methylation signature for renpenning syndrome (RENS1), a spliceopathy. Eur J Hum Genet. 2023 Feb 16. doi: 10.1038/s41431-023-01313-z. Online ahead of print. PMID: 36797465