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Bio
Dr. Schwartz’s research interests focused on the causes of intellectual disabilities and birth defects. For the former, his laboratory concentrated on identifying genes responsible for X-linked intellectual disabilities (XLID). Over 700 families were enrolled in the project, in collaboration with Dr. Roger Stevenson, a senior clinical geneticist at GGC. Linkage was achieved in 72 of the families and 36 XLID genes were cloned, many in collaboration with groups spread throughout the world. Dr. Schwartz’s group identified mutations in the spermine synthase gene (SMS) which are associated with Snyder-Robinson syndrome. This gene converts spermidine to spermine, and affected males have an abnormally high ratio of these polyamines in their white cells. In December 2017, Dr. Schwartz was instrumental in bringing together a group of researchers, with various backgrounds and an interest in polyamine biosynthesis, to form a group named the ‘Polyamigos’. The purpose of the Polyamigos is to explore avenues for treatment of SRS.
Research Interests
Papers共 823 篇Author StatisticsCo-AuthorSimilar Experts
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FRONTIERS IN PSYCHIATRY (2024)
Matthew Jensen,Corrine Smolen,Anastasia Tyryshkina,Lucilla Pizzo,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 Bezzina,Marjon van Slegtenhorst,Janneke Kammeraad,Paolo Prontera,Jean-Hubert Caberg, Harry Fraser, Siddhartha 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 Martin,Katrin Mannik,Alexandre Reymond,Laurence Faivre,Erik Sistermans,R Frank Kooy,David J Amor,Corrado Romano,Joris Andrieux,Santhosh Girirajan
medRxiv the preprint server for health sciences (2024)
Niels Vos,Sadegheh Haghshenas,Liselot van der Laan, Perle K. M. Russel,Kathleen Rooney,Michael A. Levy,Raissa Relator,Jennifer Kerkhof,Haley McConkey,Saskia M. Maas,Lisenka E. L. M. Vissers,Bert B. A. de Vries,Rolph Pfundt,Mariet W. Elting,Johanna M. van Hagen,Nienke E. Verbeek,Marjolijn C. J. Jongmans,Phillis Lakeman,Lynne Rumping,Danielle G. M. Bosch,Antonio Vitobello,Christel Thauvin-Robinet,Laurence Faivre,Sophie Nambot,Aurore Garde,Marjolaine Willems,David Genevieve,Gaël Nicolas,Tiffany Busa,Annick Toutain,Marion Gérard,Varoona Bizaoui,Bertrand Isidor,Giuseppe Merla,Maria Accadia,Charles E. Schwartz,Katrin Ounap,Mariëtte J. V. Hoffer,Marjan M. Nezarati,Marie-José H. van den Boogaard,Matthew L. Tedder,Curtis Rogers,Alfredo Brusco,Giovanni B. Ferrero,Marta Spodenkiewicz,Richard Sidlow,Alessandro Mussa,Slavica Trajkova,Emma McCann,Henry J. Mroczkowski,Sandra Jansen,Laura Donker-Kaat,Floor A. M. Duijkers,Kyra E. Stuurman,Marcel M. A. M. Mannens,Mariëlle Alders,Peter Henneman,Susan M. White,Bekim Sadikovic,Mieke M. van Haelst
Human Geneticspp.1-13, (2024)
Arkaprava Roychaudhury,Yu-Ri Lee,Tae-Ik Choi,Mervyn G. Thomas,Tahir N. Khan,Hammad Yousaf,Cindy Skinner,Gail Maconachie,Moira Crosier,Holli Horak,Cris S. Constantinescu,Tae-Yoon Kim,Kang-Han Lee, Jae-Jun Kyung,Tao Wang,Bonsu Ku,Bernard N. Chodirker,Michael F. Hammer,Irene Gottlob,William H. J. Norton,Robert Gerlai,Hyung-Goo Kim,Claudio Graziano,Tommaso Pippucci,Emanuela Iovino,Francesca Montanari,Giulia Severi,Camilo Toro,Cornelius F. Boerkoel, Hyo Sun Cha,Cheol Yong Choi,Sungjin Kim,Je-Hyun Yoon,Kelly Gilmore,Neeta L. Vora,Erica E. Davis,Albert E. Chudley,Charles E. Schwartz,Cheol-Hee Kim
Annals of Neurology (2024)
FRONTIERS IN PSYCHIATRY (2024)
INTERNATIONAL JOURNAL OF MODERN PHYSICS Ano. 21 (2024)
Charles E. Schwartz,Arthur S. Aylsworth,Judith Allanson,Agatino Battaglia,John C. Carey,Cynthia J. Curry,Kay E. Davies,Evan E. Eichler,John M. Graham Jr,Bryan Hall,Judith G. Hall,Lewis B. Holmes,H. Eugene Hoyme,Alasdair Hunter,Jeffrey Innis,John Johnson,Kim M. Keppler-Noreuil,Jules G. Leroy, Cynthia Moore,David L. Nelson,Giovanni Neri,John M. Opitz,David Picketts,F. Lucy Raymond,Stavit Allon Shalev,Roger E. Stevenson,Connie T. R. M. Stumpel, Grant Sutherland,David H. Viskochil,David D. Weaver,Elaine H. Zackai
Research square (2023)
ARCHIVES DE PEDIATRIEno. 6 (2023): 366-371
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Author Statistics
#Papers: 823
#Citation: 32040
H-Index: 95
G-Index: 153
Sociability: 9
Diversity: 3
Activity: 16
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