Laboratory Publications

Published Articles with Greenwood Diagnostic Labs’ Authors

2022

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 The Jones Family

The journey to becoming parents did not start as an easy one for my husband and I. We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child. Our son, sweet 1 lb 1.4 ounce, 12 inches long, teeny, tiny little Joseph “Hamilton” Jones was born with spina bifida, hydrocephalus, and a heart defect. It tore our hearts out leaving the hospital without him, knowing our dreams and hope for the future were shattered....

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