Laboratory Publications

Published Articles with Greenwood Diagnostic Labs’ Authors

2022

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

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early interve...

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