arrow
Back
C

Charles E. Schwartz

pennsylvania commonwealth system of higher education (pcshe)

90H-index
658Paper Count
2.7WCitation Count
Published Papers 174
Publication Date
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
err2025-12-01
err0
errOAAI
errVanSickle, Elizabeth A.; Sarasua, Sara M.; Lowe, Tracy; Farrell, Christopher L.; Boccuto, Luigi; Schwartz, Charles; Pegg, Anthony E.; Peron, Angela; Faundes, Victor; Ganapathi, Mythily; Chung, Wendy K.; Ziegler, Alban; Hofstede, Floris; Prouteau, Clement; Steindl, Katharina; Olson, Colleen; Devinsky, Orrin; Mastracci, Teresa L.; Casero Jr, Robert A.; Stewart, Tracy Murray; Gilmour, Susan; Koerner, Teri; Kutler, Mary Jo; Rajasekaran, Surender; Michael, Julianne; Bachmann, Andre S.; Bupp, Caleb P.
errShare
errSave
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
errCell
IF42.5
err2025-10-07
err0
errOAAI
errMatthew Jensen; Corrine Smolen; Anastasia Tyryshkina; Lucilla Pizzo; Jiawan Sun; Serena Noss; Deepro Banerjee; Matthew Oetjens; Hermela Shimelis; Cora M. Taylor; Vijay Kumar Pounraja; Hyebin Song; Laura Rohan; Emily Huber; Laila El Khattabi; Ingrid van de Laar; Rafik Tadros; Connie R. Bezzina; Marjon van Slegtenhorst; Janneke Kammeraad; Paolo Prontera; Jean-Hubert Caberg; Harry Fraser; Siddharth Banka; Anke Van Dijck; Charles Schwartz; Els Voorhoeve; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Mathilde Lefebvre; Kate Pope; Penny Snell; Amber Boys; Paul J. Lockhart; Myla Ashfaq; Elizabeth McCready; Margaret Nowacyzk; Lucia Castiglia; Ornella Galesi; Emanuela Avola; Teresa Mattina; Marco Fichera; Maria Grazia Bruccheri; Giuseppa Maria Luana Mandarà; Francesca Mari; Flavia Privitera; Ilaria Longo; Aurora Curró; Alessandra Renieri; Boris Keren; Perrine Charles; Silvestre Cuinat; Mathilde Nizon; Olivier Pichon; Claire Bénéteau; Radka Stoeva; Dominique Martin-Coignard; Sophia Blesson; Cedric Le Caignec; Sandra Mercier; Marie Vincent; Christa L. Martin; Katrin Mannik; Alexandre Reymond; Laurence Faivre; Erik Sistermans; R. Frank Kooy; David J. Amor; Corrado Romano; Joris Andrieux; Santhosh Girirajan
errShare
errSave
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes
err2024-05-24
err3
errOAAI
errVos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; Verbeek, Nienke E.; Jongmans, Marjolijn C. J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gael; Busa, Tiffany; Toutain, Annick; Gerard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariette J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-Jose H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Marielle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M.
errShare
errSave
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports (vol 14, 1327802, 2024)
err2024-02-13
err0
errOAAI
errMontanaro, Federica Alice Maria; Mandarino, Alessandra; Alesi, Viola; Schwartz, Charles; Sepulveda, Daniela Judith Claps; Skinner, Cindy; Friez, Michael; Piccolo, Gabriele; Novelli, Antonio; Zanni, Ginevra; Dentici, Maria Lisa; Vicari, Stefano; Alfieri, Paolo
errShare
errSave
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports
err2024-01-15
err1
errOAAI
errMontanaro, Federica Alice Maria; Mandarino, Alessandra; Alesi, Viola; Schwartz, Charles; Sepulveda, Daniela Judith Claps; Skinner, Cindy; Friez, Michael; Piccolo, Gabriele; Novelli, Antonio; Zanni, Ginevra; Dentici, Maria Lisa; Vicari, Stefano; Alfieri, Paolo
errShare
errSave
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
err2023-12-01
err0
errOAAI
errWang, Jiyong; Foroutan, Aidin; Richardson, Ellen; Skinner, Steven A.; Reilly, Jack; Kerkhof, Jennifer; Curry, Cynthia J.; Tarpey, Patrick S.; Robertson, Stephen P.; Maystadt, Isabelle; Keren, Boris; Dixon, Joanne W.; Skinner, Cindy; Stapleton, Rachel; Ruaud, Lyse; Gumus, Evren; Lakeman, Phillis; Alders, Marielle; Tedder, Matthew L.; Schwartz, Charles E.; Friez, Michael J.; Sadikovic, Bekim; Stevenson, Roger E.
errShare
errSave
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
err2023-12-01
err4
errOAAI
errSmolen, Corrine; Jensen, Matthew; Dyer, Lisa; Pizzo, Lucilla; Tyryshkina, Anastasia; Banerjee, Deepro; Rohan, Laura; Huber, Emily; Khattabi, Laila El; Prontera, Paolo; Caberg, Jean-Hubert; Dijck, Anke Van; Schwartz, Charles; Faivre, Laurence; Callier, Patrick; Mosca-Boidron, Anne-Laure; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Lockhart, Paul J.; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Mandara, Giuseppa Maria Luana; Bruccheri, Maria Grazia; Pichon, Olivier; Caignec, Cedric Le; Stoeva, Radka; Cuinat, Silvestre; Mercier, Sandra; Beneteau, Claire; Blesson, Sophie; Nordsletten, Ashley; Martin-Coignard, Dominique; Sistermans, Erik; Kooy, R. Frank; Amor, David J.; Romano, Corrado; Isidor, Bertrand; Juusola, Jane; Girirajan, Santhosh
errShare
errSave
Characterizing Post-Cardiac Surgery Infection Risk: A Statewide Experience
err2023-11-07
err0
PREAI
errRaza, Syed; Zhou, Shiwei; Chang, Chiang-Hua; Hawkins, Robert; Alnajjar, Raed; DeLucia, Alphonse; Schwartz, Charles; Thompson, Mike P.; Barnett, Noah; Hammond, Eric N.; Pagani, Francis D.; Likosky, Donald S.
errShare
errSave
PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation
err2023-04-26
err6
errOAAI
errTruong, Brittany T.; Shull, Lomeli C.; Lencer, Ezra; Bend, Eric G.; Field, Michael; Blue, Elizabeth E.; Bamshad, Michael J.; Skinner, Cindy; Everman, David; Schwartz, Charles E.; Flanagan-Steet, Heather; Artinger, Kristin B.
errShare
errSave
Identification of a DNA methylation signature for renpenning syndrome (RENS1), a spliceopathy
err2023-02-16
err3
errOAAI
errHaghshenas, Sadegheh; Foroutan, Aidin; Bhai, Pratibha; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Skinner, Cindy D.; Caylor, Raymond C.; Tedder, Matthew L.; Stevenson, Roger E.; Sadikovic, Bekim; Schwartz, Charles E.
errShare
errSave
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
err2022-09-01
err5
errOAAI
errKury, Sebastien; Zhang, Jinwei; Besnard, Thomas; Caro-Llopis, Alfonso; Zeng, Xue; Robert, Stephanie M.; Josiah, Sunday S.; Kiziltug, Emre; Denomme-Pichon, Anne-Sophie; Cogne, Benjamin; Kundishora, Adam J.; Hao, Le T.; Li, Hong; Stevenson, Roger E.; Louie, Raymond J.; Deb, Wallid; Torti, Erin; Vignard, Virginie; McWalter, Kirsty; Raymond, F. Lucy; Rajabi, Farrah; Ranza, Emmanuelle; Grozeva, Detelina; Coury, Stephanie A.; Blanc, Xavier; Brischoux-Boucher, Elise; Keren, Boris; Ounap, Katrin; Reinson, Karit; Ilves, Pilvi; Wentzensen, Ingrid M.; Barr, Eileen E.; Guihard, Solveig Heide; Charles, Perrine; Seaby, Eleanor G.; Monaghan, Kristin G.; Rio, Marlene; van Bever, Yolande; van Slegtenhorst, Marjon; Chung, Wendy K.; Wilson, Ashley; Quinquis, Delphine; Breheret, Flora; Retterer, Kyle; Lindenbaum, Pierre; Scalais, Emmanuel; Rhodes, Lindsay; Stouffs, Katrien; Pereira, Elaine M.; Berger, Sara M.; Milla, Sarah S.; Jaykumar, Ankita B.; Cobb, Melanie H.; Panchagnula, Shreyas; Duy, Phan Q.; Vincent, Marie; Mercier, Sandra; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Audebert-Bellanger, Severine; Odent, Sylvie; Schmitt, Sebastien; Boisseau, Pierre; Bonneau, Dominique; Toutain, Annick; Colin, Estelle; Pasquier, Laurent; Redon, Richard; Bouman, Arjan; Rosenfeld, Jill A.; Friez, Michael J.; Perez-Pena, Helena; Rizvi, Syed Raza Akhtar; Haider, Shozeb; Antonarakis, Stylianos E.; Schwartz, Charles E.; Martinez, Francisco; Bezieau, Stephane; Kahle, Kristopher T.; Isidor, Bertrand
errShare
errSave
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
err2022-08-21
err46
errOAAI
errLevy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, Maria Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S.; Cherick, Florian; Foroutan, Aidin; Friez, Michael J.; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A.; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J.; Maitz, Silvia; Milani, Donatella; Morgan, Angela T.; Oegema, Renske; Ostergaard, Elsebet; Pallares, Nathalie R.; Piccione, Maria; Plomp, Astrid S.; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W. E.; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella M.; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J.; Vergano, Samantha A.; Vos, Niels; Walden, Kellie K.; Azmanov, Dimitar; Balci, Tugce B.; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A.; Mannens, Marcel M. A. M.; Roscioli, Tony; Siu, Victoria; Amor, David J.; Baynam, Gareth; Bend, Eric G.; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M.; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A.; Fleming, Mark D.; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D.; McNeill, Alisdair; Menke, Leonie A.; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A.; Stevenson, Roger E.; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L.; Sadikovic, Bekim
errShare
errSave
Genome sequencing reveals BHLHA9 gene duplication as cause of multi-generational split-hand/foot malformation with long bone deficiency
err2022-03-01
err1
errOAAI
errCaylor, Raymond; Fee, Timothy; Lay, Andrew; Skinner, Cindy; Everman, David; Blue, Elizabeth; Bamshad, Michael; Schwartz, Charles; Friez, Michael; Stevenson, Roger
errShare
errSave
GM3 synthase deficiency in non-Amish patients
err2022-02-01
err9
PREAI
errHeide, Solveig; Jacquemont, Marie-Line; Cheillan, David; Renouil, Michel; Tallot, Marilyn; Schwartz, Charles E.; Miquel, Juliette; Bintner, Marc; Rodriguez, Diana; Darcel, Francoise; Buratti, Julien; Haye, Damien; Passemard, Sandrine; Gras, Domitille; Perrin, Laurence; Capri, Yline; Gerard, Benedicte; Piton, Amelie; Keren, Boris; Thauvin-Robinet, Christel; Duffourd, Yannis; Faivre, Laurence; Poe, Charlotte; Perville, Anne; Heron, Delphine; Thevenon, Julien; Arnaud, Lionel; LeGuern, Eric; La Selva, Lorita; Vetro, Annalisa; Guerrini, Renzo; Nava, Caroline; Mignot, Cyril
errShare
errSave
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
err2022-01-07
err11
errOAAI
errWang, Jiyong; Foroutan, Aidin; Richardson, Ellen; Skinner, Steven A.; Reilly, Jack; Kerkhof, Jennifer; Curry, Cynthia J.; Tarpey, Patrick S.; Robertson, Stephen P.; Maystadt, Isabelle; Keren, Boris; Dixon, Joanne W.; Skinner, Cindy; Stapleton, Rachel; Ruaud, Lyse; Gumus, Evren; Lakeman, Phillis; Alders, Marielle; Tedder, Matthew L.; Schwartz, Charles E.; Friez, Michael J.; Sadikovic, Bekim; Stevenson, Roger E.
errShare
errSave
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders (Feb, 10.1038/s41436-020-01096-4, 2021)
err2021-11-01
err3
errOAAI
errSadikovic, Bekim; Levy, Michael A.; Kerkhof, Jennifer; Aref-Eshghi, Erfan; Schenkel, Laila; Stuart, Alan; McConkey, Haley; Henneman, Peter; Venema, Andrea; Schwartz, Charles E.; Stevenson, Roger E.; Skinner, Steven A.; DuPont, Barbara R.; Fletcher, Robin S.; Balci, Tugce B.; Siu, Victoria Mok; Granadillo, Jorge L.; Masters, Jennefer; Kadour, Mike; Friez, Michael J.; van Haelst, Mieke M.; Mannens, Marcel M. A. M.; Louie, Raymond J.; Lee, Jennifer A.; Tedder, Matthew L.; Alders, Marielle
errShare
errSave
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
err2021-06-01
err118
errOAAI
errSadikovic, Bekim; Levi, Michael A.; Kerkhof, Jennifer; Aref-Eshghi, Erfan; Schenkel, Laila; Stuart, Alan; McConkey, Haley; Henneman, Peter; Venema, Andrea; Schwartz, Charles E.; Stevenson, Roger E.; Skinner, Steven A.; DuPont, Barbara R.; Fletcher, Robin S.; Balci, Tugce B.; Siu, Victoria Mok; Granadillo, Jorge L.; Masters, Jennefer; Kadour, Mike; Friez, Michael J.; van Haelst, Mieke M.; Mannens, Marcel M. A. M.; Louie, Raymond J.; Lee, Jennifer A.; Tedder, Matthew L.; Alders, Marielle
errShare
errSave
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability
err2021-05-03
err0
errOAAI
errField, Michael J.; Kumar, Raman; Hackett, Anna; Kayumi, Sayaka; Shoubridge, Cheryl A.; Ewans, Lisa J.; Ivancevic, Atma M.; Dudding-Byth, Tracy; Carroll, Renee; Kroes, Thessa; Gardner, Alison E.; Sullivan, Patricia; Ha, Thuong T.; Schwartz, Charles E.; Cowley, Mark J.; Dinger, Marcel E.; Palmer, Elizabeth E.; Christie, Louise; Shaw, Marie; Roscioli, Tony; Gecz, Jozef; Corbett, Mark A.
errShare
errSave
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities
err2021-04-01
err5
errOAAI
errAprigliano, Rossana; Aksu, Merdane Ezgi; Bradamante, Stefano; Mihaljevic, Boris; Wang, Wei; Rian, Kristin; Montaldo, Nicola P.; Grooms, Kayla Mae; Martin, Sarah L. Fordyce; Bordin, Diana L.; Bosshard, Matthias; Peng, Yunhui; Alexov, Emil; Skinner, Cindy; Liabakk, Nina-Beate; Sullivan, Gareth J.; Bjoras, Magnar; Schwartz, Charles E.; van Loon, Barbara
errShare
errSave
DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome
err2021-01-06
err26
errOAAI
errSchenkel, L. C.; Aref-Eshghi, E.; Rooney, K.; Kerkhof, J.; Levy, M. A.; McConkey, H.; Rogers, R. C.; Phelan, K.; Sarasua, S. M.; Jain, L.; Pauly, R.; Boccuto, L.; DuPont, B.; Cappuccio, G.; Brunetti-Pierri, N.; Schwartz, C. E.; Sadikovic, B.
errShare
errSave