Laboratory Publications

Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek-Kiper, Sarah M Nikkel, Hirofumi Ohashi, Roger E Stevenson, Thuong Ha, Denise P Cavalcanti, Hiroyuki Miyahara, Steven A Skinner, Miguel A Aguirre, Zühal Akçören, Gulen Eda Utine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjö, Koray Boduroglu, Hannah W Moore, Raymond J Louie, Peer Arts, Allie N Merrihew, Milena Babic, Matilda R Jackson, Nikos Papadogiannakis, Anna Lindstrand, Ann Nordgren, Christopher P Barnett, Hamish S Scott, Andrei S Chagin, Gen Nishimura, Giedre Grigelioniene. Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders. J Bone Miner Res. 2023 Mar 10. doi: 10.1002/jbmr.4799. Online ahead of print. PMID: 36896612

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

Sahajpal NS, Mondal AK, Fee T, Hilton B, Layman L, Hastie AR, Chaubey A, DuPont BR, Kolhe R. Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing. J Mol Diagn. 2023 Feb 7:S1525-1578(23)00022-3. doi: 10.1016/j.jmoldx.2023.01.006. Online ahead of print. PMID: 36758723

Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. PMID: 36586412

Wang J, Lichty A, Johnson J, Couick C, Moore MA, Christensen B, Howard K, Lee JA, DuPont BR, Clarkson L, Hilton BA. Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome.Chromosome Res. 2023 Jan 19;31(1):1. doi: 10.1007/s10577-023-09712-0. PMID: 36656404

Sahajpal NS, Hastie AR, Schieck M, Mondal AK, Felde M, van der Made CI, Chou JS, Randolph AG, Illig T, Zody MC, Brownstein CA, Beggs AH, Hoischen A, Chaubey A, Kolhe R; COVID19hostgenomesv Consortium. Genetic Predisposition to Neurological Complications in Patients with COVID-19.Biomolecules. 2023 Jan 9;13(1):133. doi: 10.3390/biom13010133. PMID: 36671517

Poswar FO, Henriques Nehm J, Kubaski F, Poletto E, Giugliani R. Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome). Ther Clin Risk Manag. 2022 Dec 22;18:1143-1155. doi: 10.2147/TCRM.S351300. eCollection 2022. PMID: 36578769

Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. Am J Hum Genet. 2022 Dec 21:S0002-9297(22)00541-9. doi: 10.1016/j.ajhg.2022.12.007. Online ahead of print. PMID: 36586412

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

Schwartz CE, Louie RJ, Toutain A, Skinner C, Friez MJ, Stevenson RE. X-Linked intellectual disability update 2022. Am J Med Genet A. 2022 Oct 27. doi: 10.1002/ajmg.a.63008. Online ahead of print. PMID: 36300573

DeLong K, Feigenbaum A, Pollard L, Lay A, Wood T. Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome. Mol Genet Metab Rep. 2022 Oct 7;33:100920. doi: 10.1016/j.ymgmr.2022.100920. eCollection 2022 Dec. PMID: 36245961

Colonna MB, Moss T, Mokashi S, Srikanth S, Jones JR, Foley JR, Skinner C, Lichty A, Kocur A, Wood T, Stewart TM, Casero RA, Flanagan-Steet H, Edison AS, Lyons MJ, Steet R. Functional Assessment of Homozygous ALDH18A1 Variants Reveals Alterations in Amino Acid and Antioxidant Metabolism. Hum Mol Genet. 2022 Sep 6:ddac226. doi: 10.1093/hmg/ddac226. Online ahead of print. PMID: 36067040

Baker T, Caylor R, Wang J, Kilpatrick M, Batalis N, Wolff D, Welsh C. Neuropathologic Findings in Galloway-Mowat Syndrome 3 With a Novel OSGEP Variant. J Neuropathol Exp Neurol. 2022 Sep 5:nlac077. doi: 10.1093/jnen/nlac077. Online ahead of print. PMID: 36063408

McGee SR, Rajamanickam S, Adhikari S, Falayi OC, Wilson TA, Shayota BJ, Cooley Coleman JA, Skinner C, Caylor RC, Stevenson RE, D’ Angioli Costa Quaio CR, Wilke BC, Bain JM, Anyane-Yeboa K, Brown K, Greally JM, Bijlsma EK, Ruivenkamp CAL, Politi K, Arbogast LA, Collard MW, Huggenvik JI, Elsea SH, Jensik PJ. Expansion and mechanistic insights of de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders. Hum Mol Genet. 2022 Aug 18:ddac200. doi: 10.1093/hmg/ddac200. Online ahead of print. PMID: 35981081

Cooley Coleman JA, Fee T, Bend R, Louie R, Annese F, Stallworth J, Worthington J, Buchanan CB, Everman DB, Skinner S, Friez MJ, Jones JR, Spellicy CJ. Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome. Am J Med Genet A. 2022 Aug 4. doi: 10.1002/ajmg.a.62913. Online ahead of print. PMID: 35924478

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

McKnight D, Bean L, Karbassi I, Beattie K, Bienvenu T, Bonin H, Fang P, Chrisodoulou J, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Neul J, Percy A, Ramsden S, Zoghbi H, Das S. Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods. Hum Mutat. 2022 Aug;43(8):1097-1113. doi: 10.1002/humu.24302. Epub 2021 Dec 2. PMID: 34837432

Sohn YB, Rogers C, Stallworth J, Cooley Coleman JA, Buch L, Jozwiak E, Johnson JA, Wood T, Harmatz P, Pollard L, Louie RJ. RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A. Mol Genet Metab Rep. 2022 May 3;31:100875. doi: 10.1016/j.ymgmr.2022.100875. eCollection 2022 Jun. PMID: 35782621

Amélie Cordovado, Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne-Sophie Denommé-Pichon, Boris Keren, Cyril Mignot, Martine Doco-Fenzy, Lance Rodan, Keri Ramsey, Vinodh Narayanan, Julie R Jones, Eloise J Prijoles , Wendy G Mitchell, Jillian R Ozmore, Kali Juliette, Erin Torti, Elizabeth A Normand, Leslie Granger, Andrea K Petersen, Margaret G Au, Juliann P Matheny, Chanika Phornphutkul, Mary-Kathryn Chambers, Joaquín-Alejandro Fernández-Ramos, Eduardo López-Laso, Michael C Kruer, Somayeh Bakhtiari, Marcella Zollino, Manuela Morleo, Giuseppe Marangi, Davide Mei, Tiziana Pisano, Renzo Guerrini, Raymond J Louie, Anna Childers, David B Everman, Betrand Isidor, Séverine Audebert-Bellanger, Sylvie Odent, Dominique Bonneau, Brigitte Gilbert-Dussardier, Richard Redon, Stéphane Bézieau, Frédéric Laumonnier, Esther T Stoeckli, Annick Toutain, Marie-Laure Vuillaume. SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance. Hum Mol Genet. 2022 May 23;ddac114. doi: 10.1093/hmg/ddac114. Online ahead of print. PMID: 35604360

Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Stephanie M Robert, Sunday S Josiah, Emre Kiziltug, Anne-Sophie Denommé-Pichon, Benjamin Cogné, Adam, J Kundishora, Le T Hao, Hong Li, Roger E Stevenson, Raymond J Louie, Wallid Deb, Erin Torti, Virginie Vignard, Kirsty McWalter, F Lucy Raymond, Farrah Rajabi, Emmanuelle Ranza, Detelina Grozeva, Stephanie A Coury, Xavier Blanc, Elise Brischoux-Boucher, Boris Keren, Katrin Õunap, Karit Reinson, Pilvi Ilves, Ingrid M Wentzensen, Eileen E Barr, Solveig Heide Guihard, Perrine Charles, Eleanor G Seaby, Kristin G Monaghan, Marlène Rio, Yolande van Bever, Marjon van Slegtenhorst, Wendy K Chung, Ashley Wilson, Delphine Quinquis, Flora Bréhéret, Kyle Retterer, Pierre Lindenbaum, Emmanuel Scalais, Lindsay Rhodes, Katrien Stouffs, Elaine M Pereira, Sara M Berger, Sarah S Milla, Ankita B Jaykumar, Melanie H Cobb, Shreyas Panchagnula, Phan Q Duy, Marie Vincent, Sandra Mercier, Brigitte Gilbert-Dussardier, Xavier Le Guillou, Séverine Audebert-Bellanger, Sylvie Odent, Sébastien Schmitt, Pierre Boisseau, Dominique Bonneau, Annick Toutain, Estelle Colin, Laurent Pasquier, Richard Redon, Arjan Bouman, Jill A Rosenfeld, Michael J Friez, Helena Pérez-Peña, Syed Raza Akhtar Rizvi, Shozeb Haider, Stylianos E Antonarakis, Charles E Schwartz, Francisco Martínez, Stéphane Bézieau, Kristopher T Kahle, Bertrand Isidor. Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genet Med. 2022 Jun 9;S1098-3600(22)00775-4. doi: 10.1016/j.gim.2022.05.009. Online ahead of print. PMID: 35678782

Orchard PJ, Gupta A, Eisengart JB, Polgreen LE, Pollard LM, Braunlin E, Pasquali M, Lund T. Hematopoietic stem cell transplant for Hurler Syndrome: does using bone marrow or umbilical cord blood make a difference? Blood Adv. 2022 Apr 27:bloodadvances.2022007212. doi: 10.1182/bloodadvances.2022007212. Online ahead of print. PMID: 35476057

Carolina Montano, Jacquelyn F Britton, Jacqueline R Harris, Jennifer Kerkhof, Benjamin T Barnes, Jennifer A Lee, Bekim Sadikovic, Nara Sobreira, Jill A Fahrner. Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome. Am J Med Genet A. 2022 Apr 6. doi: 10.1002/ajmg.a.62754. Online ahead of print. PMID: 35384273

Jessica A Cooley Coleman, Sara M Sarasua, Hannah Warren Moore, Luigi Boccuto, Christopher W Cowan, Steven A Skinner, Jane M DeLuca. Clinical findings from the landmark MEF2C-related disorders natural history study. Mol Genet Genomic Med. 2022 Apr 13;e1919. doi: 10.1002/mgg3.1919. Online ahead of print. PMID: 35416405

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

Bell S, Butler KM, Drazba KT, Lynch J, Abidi FE, DuPont B, Stevenson RE. Angelman syndrome with a 15q11q13 deletion in a mother and daughter. Clin Dysmorphol. 2022 Apr 1;31(2):91-93. doi: 10.1097/MCD.0000000000000399. PMID: 34775449

Boccuto L, Mitz A, Abenavoli L, Sarasua SM, Bennett W, Rogers C, DuPont B, Phelan K. Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors. Genes (Basel). 2022 Mar 17;13(3):528. doi: 10.3390/genes13030528. PMID: 35328081

Xiaolan Fang, Kameryn M Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang, Timothy Feyma, Robin C Ryther, Shannon Standridge, Peter Heydemann, Mary Jones, Richard Haas, David N Lieberman, Eric D Marsh, Tim A Benke, Steve Skinner, Jeffrey L Neul, Alan K Percy, Michael J Friez, Raymond C Caylor.  Analysis of X-inactivation status in a Rett syndrome natural history study cohort. Mol Genet Genomic Med. 2022 Mar 23;e1917. doi: 10.1002/mgg3.1917. Online ahead of print. PMID: 35318820

Catherine Gooch 1, Jaclyn Paige Souder 2, Matthew L Tedder 3, Jennifer Kerkhof 4, Jennifer A Lee 3, Raymond J Louie 3, Bekim Sadikovic 4 5, Robin S Fletcher 3, Nathaniel H Robin 1 Near complete deletion of KMT2D in a college student. Am J Med Genet A. 2022 Jan 18. doi: 10.1002/ajmg.a.62652. Online ahead of print. PMID: 35040536

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