Researcher
Xilma R. Ortiz Gonzalez
University of Pennsylvania
Statistics
32 papers found
All papers authored by Xilma R. Ortiz Gonzalez
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2022
Sayaka Kayumi 
,
Luis A. Pérez-Jurado,
María Palomares,
Sneha Rangu ,
Sarah E. Sheppard ,
Wendy K. Chung ,
Michael C. Kruer ,
Mira Kharbanda ,
David J. Amor ,
George McGillivray ,
Julie S. Cohen ,
Sixto García-Miñaúr,
Clare L. van Eyk ,
Kelly Harper,
Lachlan A. Jolly
and 60 other authors
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,
Luis A. Pérez-Jurado,
María Palomares,
Sneha Rangu ,
Sarah E. Sheppard ,
Wendy K. Chung ,
Michael C. Kruer ,
Mira Kharbanda ,
David J. Amor ,
George McGillivray ,
Julie S. Cohen ,
Sixto García-Miñaúr,
Clare L. van Eyk ,
Kelly Harper,
Lachlan A. Jolly
and 60 other authors
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2021
Mark P. Fitzgerald,
Marisa Prelack,
Donna Stephenson,
Stephanie M. Witzman,
Amisha B. Patel,
Alyssa R. Rosen,
Stacey D. Elkhatib Smidt,
Joseph Vithayathil,
Jaclyn Tencer,
Sarah Tefft,
Michael C. Kaufman,
Shavonne L. Massey,
Sara Fridinger,
Colin Ellis,
Xilma Ortiz‐Gonzalez
and 21 other authors
Download from onlinelibrary.wiley.com
and 21 other authors
Download from onlinelibrary.wiley.com
Ilaria Parenti ,
Mark B. Mallozzi,
Irina Hüning,
Cristina Gervasini ,
Alma Kuechler,
Emanuele Agolini ,
Beate Albrecht,
Carolina Baquero‐Montoya,
Axel Bohring,
Nuria C. Bramswig,
Andreas Busche,
Andreas Dalski,
Yiran Guo,
Britta Hanker,
Yorck Hellenbroich
and 25 other authors
,
Mark B. Mallozzi,
Irina Hüning,
Cristina Gervasini ,
Alma Kuechler,
Emanuele Agolini ,
Beate Albrecht,
Carolina Baquero‐Montoya,
Axel Bohring,
Nuria C. Bramswig,
Andreas Busche,
Andreas Dalski,
Yiran Guo,
Britta Hanker,
Yorck Hellenbroich
and 25 other authors
ANKRD11 variants: KBG syndrome and beyond
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Vishnu Anand Cuddapah ,
Zarazuela Zolkipli‐Cunningham,
Elaine Zackai,
Holly A. Dubbs,
Laura Adang ,
Steven L. Kugler,
Elizabeth M. McCormick,
Xilma R. Ortiz‐González ,
Shana McCormack,
Daniel J. Licht,
Marni J. Falk,
Eric D. Marsh
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,
Zarazuela Zolkipli‐Cunningham,
Elaine Zackai,
Holly A. Dubbs,
Laura Adang ,
Steven L. Kugler,
Elizabeth M. McCormick,
Xilma R. Ortiz‐González ,
Shana McCormack,
Daniel J. Licht,
Marni J. Falk,
Eric D. Marsh
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Daniel J. Klionsky,
Ming-Lung Yu,
S.-W. Yu,
Amal Kamal Abdel-Aziz,
Li Yu,
Sara Abdelfatah,
Jianbin Zhang,
Jianhua Zhang,
Mahmoud Abdellatif,
Asghar Abdoli,
Luoying Zhang,
Steffen Abel,
Lu W. Zhang,
Hagai Abeliovich,
M. Zhang
and 3060 other authors
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
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2020
Imane Abdelmoumen ,
Ignacio Valencia,
Melissa Yelton,
Janice Rodríguez-Hernández,
Rhonda E. Schnur,
Laurence E. Walsh,
Sandra Jimenez,
Michael C. Schneider,
Joseph Melvin,
Agustin Legido,
Mayela M. Diaz-Diaz,
Christopher Griffith,
Lauren J. Massingham,
Ana G. Cristancho ,
Christina A. Bergqvist
and 5 other authors
,
Ignacio Valencia,
Melissa Yelton,
Janice Rodríguez-Hernández,
Rhonda E. Schnur,
Laurence E. Walsh,
Sandra Jimenez,
Michael C. Schneider,
Joseph Melvin,
Agustin Legido,
Mayela M. Diaz-Diaz,
Christopher Griffith,
Lauren J. Massingham,
Ana G. Cristancho ,
Christina A. Bergqvist
and 5 other authors
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements
Download from journals.sagepub.com
Theodore G. Drivas,
Pavel N. Pichurin,
Jason Pinner,
Zoe Powis ,
Chitra Prasad,
Francesca Clementina Radio ,
Kristen J. Rasmussen ,
Deborah L. Renaud,
Eric T. Rush,
Carol Saunders,
Duygu Selcen,
Ann R. Seman,
Deepali N. Shinde,
Erica D. Smith ,
Thomas Smol
and 50 other authors
Download from www.nature.com
,
Chitra Prasad,
Francesca Clementina Radio ,
Kristen J. Rasmussen ,
Deborah L. Renaud,
Eric T. Rush,
Carol Saunders,
Duygu Selcen,
Ann R. Seman,
Deepali N. Shinde,
Erica D. Smith ,
Thomas Smol
and 50 other authors
Download from www.nature.com
2019
Margaret A. Gustafson,
Lalith Perera,
Lishuang Shen ,
Elizabeth M. McCormick ,
Matthew J. Longley,
Renkui Bai,
Jianping Kong,
Matthew Dulik,
Amy C. Goldstein,
Shana E. McCormack,
Benjamin L. Laskin,
Bart P. Leroy,
Meredith G. Ellington,
Xilma R. Ortiz-Gonzalez ,
William C. Copeland
and 1 other authors
Download from doi.org
,
Elizabeth M. McCormick ,
Matthew J. Longley,
Renkui Bai,
Jianping Kong,
Matthew Dulik,
Amy C. Goldstein,
Shana E. McCormack,
Benjamin L. Laskin,
Bart P. Leroy,
Meredith G. Ellington,
Xilma R. Ortiz-Gonzalez ,
William C. Copeland
and 1 other authors
Download from doi.org
David B. Beck,
T. Subramanian,
S. Vijayalingam,
Michele L. Yang,
Devorah Segal,
Sumit Verma,
Darrel Waggoner,
Marwan Shinawi,
Uthayashankar R. Ezekiel,
Sandra Donkervoort,
Holly A. Dubbs,
Shenela Lakhani,
Margaret Au,
John M. Graham,
Xilma R. Ortiz-Gonzalez
and 3 other authors
and 3 other authors
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity
Download from link.springer.com
2018
Patrick R. Blackburn ,
Mariana Reyes,
Shabnam Zarei,
Sofia Perez-Solorzano,
Rachael A. Vaubel,
Joseph E. Parisi,
Cristina Villanueva-Mendoza,
Iris G. Tirado-Torres,
Pavel N. Pichurin,
Oscar F. Chacon-Camacho,
Juan C. Zenteno ,
Graciela A. Lopez-Uriarte,
Elizabeth J. Bhoj ,
Marine I. Murphree,
Jessica Nava
and 4 other authors
Download from api.wiley.com
,
Mariana Reyes,
Shabnam Zarei,
Sofia Perez-Solorzano,
Rachael A. Vaubel,
Joseph E. Parisi,
Cristina Villanueva-Mendoza,
Iris G. Tirado-Torres,
Pavel N. Pichurin,
Oscar F. Chacon-Camacho,
Juan C. Zenteno ,
Graciela A. Lopez-Uriarte,
Elizabeth J. Bhoj ,
Marine I. Murphree,
Jessica Nava
and 4 other authors
Download from api.wiley.com
2016
Dingding Shen,
Ciria C. Hernandez,
Wangzhen Shen,
Ningning Hu,
Annapurna Poduri,
Beth Shiedley,
Alex Rotenberg,
Alexandre N. Datta,
Steffen Leiz,
Steffi Patzer,
Rainer Boor,
Kerri Ramsey,
Ethan Goldberg,
Ingo Helbig,
Xilma R. Ortiz-Gonzalez
and 3 other authors
and 3 other authors
De novo GABRG2 mutations associated with epileptic encephalopathies
Download from europepmc.org
John J. Millichap,
Kristen L. Park,
Tammy Tsuchida,
Bruria Ben-Zeev,
Lionel Carmant,
Robert Flamini,
Nishtha Joshi,
Paul M. Levisohn,
Eric Marsh,
Srishti Nangia,
Vinodh Narayanan,
Xilma R. Ortiz-Gonzalez ,
Marc C. Patterson,
Phillip L. Pearl,
Brenda Porter
and 8 other authors
,
Marc C. Patterson,
Phillip L. Pearl,
Brenda Porter
and 8 other authors
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
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Dong Li,
Hongjie Yuan,
Xilma R. Ortiz-Gonzalez ,
Eric D. Marsh,
Lifeng Tian,
Elizabeth M. McCormick,
Gabrielle J. Kosobucki,
Wenjuan Chen,
Anthony J. Schulien,
Rosetta Chiavacci,
Anel Tankovic,
Claudia Naase,
Frieder Brueckner,
Celina von Stülpnagel-Steinbeis,
Chun Hu
and 9 other authors
Download from www.ncbi.nlm.nih.gov
,
Eric D. Marsh,
Lifeng Tian,
Elizabeth M. McCormick,
Gabrielle J. Kosobucki,
Wenjuan Chen,
Anthony J. Schulien,
Rosetta Chiavacci,
Anel Tankovic,
Claudia Naase,
Frieder Brueckner,
Celina von Stülpnagel-Steinbeis,
Chun Hu
and 9 other authors
Download from www.ncbi.nlm.nih.gov
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