James R. Lupski (James R Lupski, James Lupski)

ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 112

Top Venues

American journal of medical genetics. Part A

Human mutation

Genome medicine

medRxiv : the preprint server for health sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Riccardo Sangermano, Sohil G Patankar, Mohamed Abdel-Hamid, Lama AlAbdi, Sylvia Safwat, Kyle P Flannery, Zain Dardas, Jawid M Fatih, Chaya Murali, Varun Kannan, Timothy E Lotze, Isabella Herman, Farah Ammouri, Brianna Rezich, Stephanie Efthymiou, Shahryar Alavi, David Murphy, Zahra Firoozfar, Mahya Ebrahimi Nasab, Amir Bahreini, Majid Ghasemi, Nourelhoda A Haridy, Hamid Reza Goldouzi, Fatemeh Eghbal, Ehsan Ghayoor Karimiani, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Haowei Du, Shalini N Jhangiani, Zeynep Coban-Akdemir, Dana Marafi, Lance Rodan, Sedat Isikay, Jill A Rosenfeld, Subhadra Ramanathan, Michael Staton, null Kerby C Oberg, Robin D Clark, Catharina Wenman, Sam Loughlin, Ramy Saad, Tazeen Ashraf, Alison Male, Shereen Tadros, Reza Boostani, Ghada M H Abdel-Salam, Maha Zaki, Ebtesam Abdalla, M Chiara Manzini, M Chiara Manzini, Jennifer E Posey, Richard A Gibbs, Henry Houlden, Fowzan S Alkuraya, Kinga Bujakowska, Reza Maroofian, James R. Lupski, Long Nam Nguyen
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. medRxiv : the preprint server for health sciences (2024)
Adam S Potter, Christina Y Miyake, Claudia Gonzaga-Jauregui, Yuriana Aguilar-Sanchez, Mohit M Hulsurkar, Satadru K Lahiri, Lucia M Moreira, Neelam Mehta, Mahshid S Azamian, James R. Lupski, Svetlana Reilly, Seema R Lalani, Xander H T Wehrens
Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome. Circulation. Genomic and precision medicine 17 (4) (2024)
Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, null null, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J Olson, Eric W Klee, Brendan C Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L Cohen, Kacie Riley, Victoria Klee, Laurence E Walsh, Matthias Begemann, Miriam Elbracht, Eggermann Thomas, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S Mulhern, Tristan T Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Martin Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S Woolf, Jennifer E Posey, James R. Lupski, Benjamin Odermatt, Alina C Hilger
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ genomic medicine 9 (1) (2024)
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir S Fonov, Maxime Levesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan Sami Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa A Elmaksoud, Huda G El Said, Tawfiq Froukh, Harinder K Gill, Joseph G Gleeson, Laura Gogoll, Elaine S-Y Goh, Vykuntaraju K Gowda, Tobias B Haack, Mais O Hashem, Stefan Hauser, Trevor L Hoffman, Jacob S Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G Karimiani, Silke Kaulfuß, G Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J Marco, Kirsty McWalter, Arakel Minassian, Berge A Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C Spillman, Varunvenkat M Srinivasan, Paria N Torbati, Tulay Tos, null null, Maha S Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas Martin Durcan, Ziv Gan-Or, Massimo Avoli, César Augusto Pinheiro Ferreira Alves, Guarav K Varshney, Reza Maroofian, David A Rudko, Peter S McPherson
Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy. medRxiv : the preprint server for health sciences (2024)
Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M Grochowski, Edward G Jones, Shalini N Jhangiani, Xander H T Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E Posey, Donna M Muzny, Richard A Gibbs, James R. Lupski, Zeynep C Akdemir, Shaine Alaine Morris
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome medicine 16 (1) (2024)
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E L M Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M Butler, Michael J Lyons, Claudia M B Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane Mccormick, Mary K Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Felicia Operto, Federico Zara, Karin Writzl, Ales Maver, Maria K Haanpää, Pia Pohjola, Harri Arikka, Christian Iseli, Nicolas Guex, Alexandre Reymond
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. medRxiv : the preprint server for health sciences (2024)
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir S Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem A Alkhater, Fowzan Sami Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G El Said, Tawfiq Froukh, Harinder K Gill, Joseph G Gleeson, Laura Gogoll, Elaine Suk-Ying Goh, Vykuntaraju K Gowda, Tobias B Haack, Mais O Hashem, Stefan Hauser, Trevor L Hoffman, Jacob S Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G Karimiani, Silke Kaulfuß, G Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J Marco, Kirsty McWalter, Arakel Minassian, Berge A Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G Sadleir, Carol J Saunders, Ludger Schoels, Vandana Shashi, Rebecca C Spillmann, Varunvenkat M Srinivasan, Paria N Torbati, Tulay Tos, null null, Maha Saad Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M Durcan, Ziv Gan Or, Massimo Avoli, Cesar Alves, Guarav K Varshney, Reza Maroofian, David A Rudko, Peter S McPherson
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nature communications 15 (1) (2024)
Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M Grochowski, Edward G Jones, Shalini N Jhangiani, Xander H T Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E Posey, Donna M Muzny, Richard A Gibbs, James R. Lupski, Zeynep C Akdemir, Shaine Alaine Morris
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome medicine 16 (1) (2024)
James R. Lupski, Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid Fatih, Omnia El-Rashidy, Christopher Grochowski, Cláudia M B Carvalho, Shalini Jhangiani, Weimin Bi, Haowei Du, Richard Gibbs, Jennifer E Posey, Daniel G Calame, Maha Saad Zaki
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32. Research square (2024)
Adam S Potter, Christina Y Miyake, Claudia Gonzaga-Jauregui, Yuriana Aguilar-Sanchez, Mohit M Hulsurkar, Satadru K Lahiri, Lucia M Moreira, Neelam Mehta, Mahshid S Azamian, James R. Lupski, Svetlana Reilly, Seema R Lalani, Xander H T Wehrens
Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome. Circulation. Genomic and precision medicine 17 (4) (2024)
Abigail E Reed, Jackeline Peraza, Frederique van den Haak, Evelyn R Hernandez, Richard A Gibbs, Ivan K Chinn, James R. Lupski, Enrica Marchi, Ran Reshef, Bachir Alobeid, Emily M Mace, Jordan S Orange
β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination. Journal of immunology (Baltimore, Md. : 1950) (2024)
Abigail E Reed, Jackeline Peraza, Frederique van den Haak, Evelyn R Hernandez, Richard A Gibbs, Ivan K Chinn, James R. Lupski, Enrica Marchi, Ran Reshef, Bachir Alobeid, Emily M Mace, Jordan S Orange
β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination. Journal of immunology (Baltimore, Md. : 1950) 212 (6) (2024)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research 52 (4) (2024)
Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Riccardo Sangermano, Sohil G Patankar, Mohamed Abdel-Hamid, Lama AlAbdi, Sylvia Safwat, Kyle P Flannery, Zain Dardas, Jawid M Fatih, Chaya Murali, Varun Kannan, Timothy E Lotze, Isabella Herman, Farah Ammouri, Brianna Rezich, Stephanie Efthymiou, Shahryar Alavi, David Murphy, Zahra Firoozfar, Mahya Ebrahimi Nasab, Amir Bahreini, Majid Ghasemi, Nourelhoda A Haridy, Hamid Reza Goldouzi, Fatemeh Eghbal, Ehsan Ghayoor Karimiani, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Haowei Du, Shalini N Jhangiani, Zeynep Coban-Akdemir, Dana Marafi, Lance Rodan, Sedat Isikay, Jill A Rosenfeld, Subhadra Ramanathan, Michael Staton, Kerby C Oberg, Robin D Clark, Catharina Wenman, Sam Loughlin, Ramy Saad, Tazeen Ashraf, Alison Male, Shereen Tadros, Reza Boostani, Ghada M H Abdel-Salam, Maha Zaki, Ebtesam Abdalla, M Chiara Manzini, M Chiara Manzini, Jennifer E Posey, Richard A Gibbs, Henry Houlden, Fowzan S Alkuraya, Kinga Bujakowska, Reza Maroofian, James R. Lupski, Long Nam Nguyen
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. medRxiv : the preprint server for health sciences (2024)
Michael E Horesh, Marta Martín-Fernández, Conor Gruber, Sofija Buta, Tom Le Voyer, Eve Puzenat, Harry Lesmana, Yiming Wu, Ashley Richardson, David Stein, Stephanie Hodeib, Mariam M Youssef, Jacob A Kurowski, Elizabeth J Feuille, Luis A Pedroza, Ramsay L Fuleihan, Alexandria Haseley, Alain Hovnanian, Pierre Quartier Dit Maire, Jérémie Rosain, Georgina Davis, Daniel Mullan, O Jay Stewart, Roosheel S Patel, Angelica E Lee, Rebecca Rubinstein, Leyla Ewald, Nikhil Maheshwari, Virginia Rahming, Ivan K Chinn, James R. Lupski, Jordan S Orange, Sancho-Shimizu Vanessa, Jean Laurent Casanova, Noura S Abul-Husn, Yuval Itan, Joshua D Milner, Jacinta Bustamante, Dusan Bogunovic
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis. The Journal of experimental medicine 221 (6) (2024)
Xin Feng, Yongyu Ye, Jianan Zhang, Yuanqiang Zhang, Sen Zhao, Judith Choi Wo Mak, Nao Otomo, Zhengye Zhao, Yuchen Niu, Yoshiro Yonezawa, Guozhuang Li, Mao Lin, Xiaoxin Li, Prudence Wing Hang Cheung, Kexin Xu, Kazuki Takeda, Shengru Wang, Junjie Xie, Toshiaki Kotani, Vanessa N T Choi, You-Qiang Song, Yang Yang, Keith Dip Kei Luk, Kin Shing Lee, Ziquan Li, Pik Shan Li, Y H Connie Leung, Xiaochen Lin, Xiaolu Wang, Guixing Qiu, null null, Kota Watanabe, null null, Zhihong Wu, Jennifer E Posey, Shiro Ikegawa, James R. Lupski, Prudence Wing Hang Cheung, Terry Jianguo Zhang, Bo Gao, Nan Wu
Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations. Proceedings of the National Academy of Sciences of the United States of America 121 (18) (2024)
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E L M Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M Butler, Michael J Lyons, Claudia M B Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane Mccormick, Mary K Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Felicia Operto, Federico Zara, Karin Writzl, Ales Maver, Maria K Haanpää, Pia Pohjola, Harri Arikka, Christian Iseli, Nicolas Guex, Alexandre Reymond
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. medRxiv : the preprint server for health sciences (2024)
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E L M Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M Butler, Michael J Lyons, Claudia M B Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane Mccormick, Mary K Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Felicia Operto, Federico Zara, Karin Writzl, Ales Maver, Maria K Haanpää, Pia Pohjola, Harri Arikka, Christian Iseli, Nicolas Guex, Alexandre Reymond
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. medRxiv : the preprint server for health sciences (2024)
Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M Grochowski, Edward G Jones, Shalini N Jhangiani, Xander H T Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E Posey, Donna M Muzny, Richard A Gibbs, James R. Lupski, Zeynep C Akdemir, Shaine Alaine Morris
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome medicine 16 (1) (2024)
Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, null null, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J Olson, Eric W Klee, Brendan C Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L Cohen, Kacie Riley, Victoria Klee, Laurence E Walsh, Matthias Begemann, Miriam Elbracht, Eggermann Thomas, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S Mulhern, Tristan T Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Martin Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S Woolf, Jennifer E Posey, James R. Lupski, Benjamin Odermatt, Alina C Hilger
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ genomic medicine 9 (1) (2024)
Michael E Horesh, Marta Martín-Fernández, Conor Gruber, Sofija Buta, Tom Le Voyer, Eve Puzenat, Harry Lesmana, Yiming Wu, Ashley Richardson, David Stein, Stephanie Hodeib, Mariam M Youssef, Jacob A Kurowski, Elizabeth J Feuille, Luis A Pedroza, Ramsay L Fuleihan, Alexandria Haseley, Alain Hovnanian, Pierre Quartier Dit Maire, Jérémie Rosain, Georgina Davis, Daniel Mullan, O Jay Stewart, Roosheel S Patel, Angelica E Lee, Rebecca Rubinstein, Leyla Ewald, Nikhil Maheshwari, Virginia Rahming, Ivan K Chinn, James R. Lupski, Jordan S Orange, Sancho-Shimizu Vanessa, Jean Laurent Casanova, Noura S Abul-Husn, Yuval Itan, Joshua D Milner, Jacinta Bustamante, Dusan Bogunovic
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis. The Journal of experimental medicine 221 (6) (2024)
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir S Fonov, Maxime Levesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan Sami Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa A Elmaksoud, Huda G El Said, Tawfiq Froukh, Harinder K Gill, Joseph G Gleeson, Laura Gogoll, Elaine S-Y Goh, Vykuntaraju K Gowda, Tobias B Haack, Mais O Hashem, Stefan Hauser, Trevor L Hoffman, Jacob S Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G Karimiani, Silke Kaulfuß, G Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J Marco, Kirsty McWalter, Arakel Minassian, Berge A Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C Spillman, Varunvenkat M Srinivasan, Paria N Torbati, Tulay Tos, null null, Maha S Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas Martin Durcan, Ziv Gan-Or, Massimo Avoli, César Augusto Pinheiro Ferreira Alves, Guarav K Varshney, Reza Maroofian, David A Rudko, Peter S McPherson
Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy. medRxiv : the preprint server for health sciences (2024)
Xin Feng, Yongyu Ye, Jianan Zhang, Yuanqiang Zhang, Sen Zhao, Judith Choi Wo Mak, Nao Otomo, Zhengye Zhao, Yuchen Niu, Yoshiro Yonezawa, Guozhuang Li, Mao Lin, Xiaoxin Li, Prudence Wing Hang Cheung, Kexin Xu, Kazuki Takeda, Shengru Wang, Junjie Xie, Toshiaki Kotani, Vanessa N T Choi, You-Qiang Song, Yang Yang, Keith Dip Kei Luk, Kin Shing Lee, Ziquan Li, Pik Shan Li, Y H Connie Leung, Xiaochen Lin, Xiaolu Wang, Guixing Qiu, null null, Kota Watanabe, null null, Zhihong Wu, Jennifer E Posey, Shiro Ikegawa, James R. Lupski, Prudence Wing Hang Cheung, Terry Jianguo Zhang, Bo Gao, Nan Wu
Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations. Proceedings of the National Academy of Sciences of the United States of America 121 (18) (2024)
Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, null null, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J Olson, Eric W Klee, Brendan C Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L Cohen, Kacie Riley, Victoria Klee, Laurence E Walsh, Matthias Begemann, Miriam Elbracht, Eggermann Thomas, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S Mulhern, Tristan T Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Martin Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S Woolf, Jennifer E Posey, James R. Lupski, Benjamin Odermatt, Alina C Hilger
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ genomic medicine 9 (1) (2024)
Michael E Horesh, Marta Martín-Fernández, Conor Gruber, Sofija Buta, Tom Le Voyer, Eve Puzenat, Harry Lesmana, Yiming Wu, Ashley Richardson, David Stein, Stephanie Hodeib, Mariam M Youssef, Jacob A Kurowski, Elizabeth J Feuille, Luis A Pedroza, Ramsay L Fuleihan, Alexandria Haseley, Alain Hovnanian, Pierre Quartier Dit Maire, Jérémie Rosain, Georgina Davis, Daniel Mullan, O Jay Stewart, Roosheel S Patel, Angelica E Lee, Rebecca Rubinstein, Leyla Ewald, Nikhil Maheshwari, Virginia Rahming, Ivan K Chinn, James R. Lupski, Jordan S Orange, Sancho-Shimizu Vanessa, Jean Laurent Casanova, Noura S Abul-Husn, Yuval Itan, Joshua D Milner, Jacinta Bustamante, Dusan Bogunovic
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis. The Journal of experimental medicine 221 (6) (2024)
Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid M Fatih, Omnia F El-Rashidy, Christopher M Grochowski, Cláudia M B Carvalho, Shalini N Jhangiani, Weimin Bi, Haowei Du, Richard A Gibbs, Jennifer E Posey, Daniel G Calame, Maha Saad Zaki, James R. Lupski
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32. European journal of human genetics : EJHG (2024)
James R. Lupski, Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid Fatih, Omnia El-Rashidy, Christopher Grochowski, Cláudia M B Carvalho, Shalini Jhangiani, Weimin Bi, Haowei Du, Richard Gibbs, Jennifer E Posey, Daniel G Calame, Maha Saad Zaki
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32. Research square (2024)
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir S Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem A Alkhater, Fowzan Sami Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G El Said, Tawfiq Froukh, Harinder K Gill, Joseph G Gleeson, Laura Gogoll, Elaine Suk-Ying Goh, Vykuntaraju K Gowda, Tobias B Haack, Mais O Hashem, Stefan Hauser, Trevor L Hoffman, Jacob S Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G Karimiani, Silke Kaulfuß, G Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J Marco, Kirsty McWalter, Arakel Minassian, Berge A Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G Sadleir, Carol J Saunders, Ludger Schoels, Vandana Shashi, Rebecca C Spillmann, Varunvenkat M Srinivasan, Paria N Torbati, Tulay Tos, null null, Maha Saad Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M Durcan, Ziv Gan Or, Massimo Avoli, Cesar Alves, Guarav K Varshney, Reza Maroofian, David A Rudko, Peter S McPherson
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nature communications 15 (1) (2024)
Adam S Potter, Christina Y Miyake, Claudia Gonzaga-Jauregui, Yuriana Aguilar-Sanchez, Mohit M Hulsurkar, Satadru K Lahiri, Lucia M Moreira, Neelam Mehta, Mahshid S Azamian, James R. Lupski, Svetlana Reilly, Seema R Lalani, Xander H T Wehrens
Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome. Circulation. Genomic and precision medicine 17 (4) (2024)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research 52 (4) (2024)
Moez Dawood, Shawn Fayer, Sriram Pendyala, Mason Post, Divya Kalra, Karynne E Patterson, Eric Venner, Lara A Muffley, Douglas M Fowler, Alan F Rubin, Jennifer E Posey, Sharon E Plon, James R. Lupski, Richard A Gibbs, Joshua T Schiffer, Carla Daniela Robles-Espinoza, Willow Coyote-Maestas, Irene Gallego Romero
Defining and Reducing Variant Classification Disparities. medRxiv : the preprint server for health sciences (2024)
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir S Fonov, Maxime Levesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan Sami Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa A Elmaksoud, Huda G El Said, Tawfiq Froukh, Harinder K Gill, Joseph G Gleeson, Laura Gogoll, Elaine S-Y Goh, Vykuntaraju K Gowda, Tobias B Haack, Mais O Hashem, Stefan Hauser, Trevor L Hoffman, Jacob S Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G Karimiani, Silke Kaulfuß, G Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J Marco, Kirsty McWalter, Arakel Minassian, Berge A Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C Spillman, Varunvenkat M Srinivasan, Paria N Torbati, Tulay Tos, null null, Maha S Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas Martin Durcan, Ziv Gan-Or, Massimo Avoli, César Augusto Pinheiro Ferreira Alves, Guarav K Varshney, Reza Maroofian, David A Rudko, Peter S McPherson
Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy. medRxiv : the preprint server for health sciences (2024)
Abigail E Reed, Jackeline Peraza, Frederique van den Haak, Evelyn R Hernandez, Richard A Gibbs, Ivan K Chinn, James R. Lupski, Enrica Marchi, Ran Reshef, Bachir Alobeid, Emily M Mace, Jordan S Orange
β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination. Journal of immunology (Baltimore, Md. : 1950) 212 (6) (2024)
Michael E Horesh, Marta Martín-Fernández, Conor Gruber, Sofija Buta, Tom Le Voyer, Eve Puzenat, Harry Lesmana, Yiming Wu, Ashley Richardson, David Stein, Stephanie Hodeib, Mariam M Youssef, Jacob A Kurowski, Elizabeth J Feuille, Luis A Pedroza, Ramsay L Fuleihan, Alexandria Haseley, Alain Hovnanian, Pierre Quartier Dit Maire, Jérémie Rosain, Georgina Davis, Daniel Mullan, O Jay Stewart, Roosheel S Patel, Angelica E Lee, Rebecca Rubinstein, Leyla Ewald, Nikhil Maheshwari, Virginia Rahming, Ivan K Chinn, James R. Lupski, Jordan S Orange, Sancho-Shimizu Vanessa, Jean Laurent Casanova, Noura S Abul-Husn, Yuval Itan, Joshua D Milner, Jacinta Bustamante, Dusan Bogunovic
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis. The Journal of experimental medicine 221 (6) (2024)
Abigail E Reed, Jackeline Peraza, Frederique van den Haak, Evelyn R Hernandez, Richard A Gibbs, Ivan K Chinn, James R. Lupski, Enrica Marchi, Ran Reshef, Bachir Alobeid, Emily M Mace, Jordan S Orange
β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination. Journal of immunology (Baltimore, Md. : 1950) 212 (6) (2024)
Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M Grochowski, Edward G Jones, Shalini N Jhangiani, Xander H T Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E Posey, Donna M Muzny, Richard A Gibbs, James R. Lupski, Zeynep C Akdemir, Shaine Alaine Morris
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome medicine 16 (1) (2024)
Abigail E Reed, Jackeline Peraza, Frederique van den Haak, Evelyn R Hernandez, Richard A Gibbs, Ivan K Chinn, James R. Lupski, Enrica Marchi, Ran Reshef, Bachir Alobeid, Emily M Mace, Jordan S Orange
β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination. Journal of immunology (Baltimore, Md. : 1950) 212 (6) (2024)
James R. Lupski, Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid Fatih, Omnia El-Rashidy, Christopher Grochowski, Cláudia M B Carvalho, Shalini Jhangiani, Weimin Bi, Haowei Du, Richard Gibbs, Jennifer E Posey, Daniel G Calame, Maha Saad Zaki
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32. Research square (2024)
Abigail E Reed, Jackeline Peraza, Frederique van den Haak, Evelyn R Hernandez, Richard A Gibbs, Ivan K Chinn, James R. Lupski, Enrica Marchi, Ran Reshef, Bachir Alobeid, Emily M Mace, Jordan S Orange
β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination. Journal of immunology (Baltimore, Md. : 1950) 212 (6) (2024)
Xin Feng, Yongyu Ye, Jianan Zhang, Yuanqiang Zhang, Sen Zhao, Judith Choi Wo Mak, Nao Otomo, Zhengye Zhao, Yuchen Niu, Yoshiro Yonezawa, Guozhuang Li, Mao Lin, Xiaoxin Li, Prudence Wing Hang Cheung, Kexin Xu, Kazuki Takeda, Shengru Wang, Junjie Xie, Toshiaki Kotani, Vanessa N T Choi, You-Qiang Song, Yang Yang, Keith Dip Kei Luk, Kin Shing Lee, Ziquan Li, Pik Shan Li, Y H Connie Leung, Xiaochen Lin, Xiaolu Wang, Guixing Qiu, null null, Kota Watanabe, null null, Zhihong Wu, Jennifer E Posey, Shiro Ikegawa, James R. Lupski, Prudence Wing Hang Cheung, Terry Jianguo Zhang, Bo Gao, Nan Wu
Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations. Proceedings of the National Academy of Sciences of the United States of America 121 (18) (2024)
Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M Grochowski, Edward G Jones, Shalini N Jhangiani, Xander H T Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E Posey, Donna M Muzny, Richard A Gibbs, James R. Lupski, Zeynep C Akdemir, Shaine Alaine Morris
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome medicine 16 (1) (2024)
Michael E Horesh, Marta Martín-Fernández, Conor Gruber, Sofija Buta, Tom Le Voyer, Eve Puzenat, Harry Lesmana, Yiming Wu, Ashley Richardson, David Stein, Stephanie Hodeib, Mariam M Youssef, Jacob A Kurowski, Elizabeth J Feuille, Luis A Pedroza, Ramsay L Fuleihan, Alexandria Haseley, Alain Hovnanian, Pierre Quartier Dit Maire, Jérémie Rosain, Georgina Davis, Daniel Mullan, O Jay Stewart, Roosheel S Patel, Angelica E Lee, Rebecca Rubinstein, Leyla Ewald, Nikhil Maheshwari, Virginia Rahming, Ivan K Chinn, James R. Lupski, Jordan S Orange, Sancho-Shimizu Vanessa, Jean Laurent Casanova, Noura S Abul-Husn, Yuval Itan, Joshua D Milner, Jacinta Bustamante, Dusan Bogunovic
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis. The Journal of experimental medicine 221 (6) (2024)
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E L M Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M Butler, Michael J Lyons, Claudia M B Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane Mccormick, Mary K Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Felicia Operto, Federico Zara, Karin Writzl, Ales Maver, Maria K Haanpää, Pia Pohjola, Harri Arikka, Christian Iseli, Nicolas Guex, Alexandre Reymond
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. medRxiv : the preprint server for health sciences (2024)
Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M Grochowski, Edward G Jones, Shalini N Jhangiani, Xander H T Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E Posey, Donna M Muzny, Richard A Gibbs, James R. Lupski, Zeynep C Akdemir, Shaine Alaine Morris
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome medicine 16 (1) (2024)
Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M Grochowski, Edward G Jones, Shalini N Jhangiani, Xander H T Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E Posey, Donna M Muzny, Richard A Gibbs, James R. Lupski, Zeynep C Akdemir, Shaine Alaine Morris
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome medicine 16 (1) (2024)
M Cecilia Poli, Boris Rebolledo-Jaramillo, Catalina Lagos, Joan Orellana, Gabriela Moreno, Luz M Martín, Gonzalo Encina, Daniela Böhme, Víctor Faundes, M Jesús Zavala, Maria Trinidad Hasbun, Sara Fischer, Florencia Brito, Diego Araya, Manuel Lira, Javiera de la Cruz, Camila Astudillo, Guillermo Lay-Son, Carolina Cares, Mariana Aracena, Esteban San Martin, Zeynep Coban-Akdemir, Jennifer E Posey, James R. Lupski, Gabriela M Repetto
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile. European journal of human genetics : EJHG (2024)
M Cecilia Poli, Boris Rebolledo-Jaramillo, Catalina Lagos, Joan Orellana, Gabriela Moreno, Luz M Martín, Gonzalo Encina, Daniela Böhme, Víctor Faundes, M Jesús Zavala, Maria Trinidad Hasbun, Sara Fischer, Florencia Brito, Diego Araya, Manuel Lira, Javiera de la Cruz, Camila Astudillo, Guillermo Lay-Son, Carolina Cares, Mariana Aracena, Esteban San Martin, Zeynep Coban-Akdemir, Jennifer E Posey, James R. Lupski, Gabriela M Repetto
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile. European journal of human genetics : EJHG (2024)
Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, null null, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J Olson, Eric W Klee, Brendan C Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L Cohen, Kacie Riley, Victoria Klee, Laurence E Walsh, Matthias Begemann, Miriam Elbracht, Eggermann Thomas, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S Mulhern, Tristan T Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Martin Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S Woolf, Jennifer E Posey, James R. Lupski, Benjamin Odermatt, Alina C Hilger
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ genomic medicine 9 (1) (2024)
Michael E Horesh, Marta Martín-Fernández, Conor Gruber, Sofija Buta, Tom Le Voyer, Eve Puzenat, Harry Lesmana, Yiming Wu, Ashley Richardson, David Stein, Stephanie Hodeib, Mariam M Youssef, Jacob A Kurowski, Elizabeth J Feuille, Luis A Pedroza, Ramsay L Fuleihan, Alexandria Haseley, Alain Hovnanian, Pierre Quartier Dit Maire, Jérémie Rosain, Georgina Davis, Daniel Mullan, O Jay Stewart, Roosheel S Patel, Angelica E Lee, Rebecca Rubinstein, Leyla Ewald, Nikhil Maheshwari, Virginia Rahming, Ivan K Chinn, James R. Lupski, Jordan S Orange, Sancho-Shimizu Vanessa, Jean Laurent Casanova, Noura S Abul-Husn, Yuval Itan, Joshua D Milner, Jacinta Bustamante, Dusan Bogunovic
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis. The Journal of experimental medicine 221 (6) (2024)
Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M Grochowski, Edward G Jones, Shalini N Jhangiani, Xander H T Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E Posey, Donna M Muzny, Richard A Gibbs, James R. Lupski, Zeynep C Akdemir, Shaine Alaine Morris
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome medicine 16 (1) (2024)
Adam S Potter, Christina Y Miyake, Claudia Gonzaga-Jauregui, Yuriana Aguilar-Sanchez, Mohit M Hulsurkar, Satadru K Lahiri, Lucia M Moreira, Neelam Mehta, Mahshid S Azamian, James R. Lupski, Svetlana Reilly, Seema R Lalani, Xander H T Wehrens
Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome. Circulation. Genomic and precision medicine (2024)
Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M Grochowski, Edward G Jones, Shalini N Jhangiani, Xander H T Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E Posey, Donna M Muzny, Richard A Gibbs, James R. Lupski, Zeynep C Akdemir, Shaine Alaine Morris
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome medicine 16 (1) (2024)
Xin Feng, Yongyu Ye, Jianan Zhang, Yuanqiang Zhang, Sen Zhao, Judith Choi Wo Mak, Nao Otomo, Zhengye Zhao, Yuchen Niu, Yoshiro Yonezawa, Guozhuang Li, Mao Lin, Xiaoxin Li, Prudence Wing Hang Cheung, Kexin Xu, Kazuki Takeda, Shengru Wang, Junjie Xie, Toshiaki Kotani, Vanessa N T Choi, You-Qiang Song, Yang Yang, Keith Dip Kei Luk, Kin Shing Lee, Ziquan Li, Pik Shan Li, Y H Connie Leung, Xiaochen Lin, Xiaolu Wang, Guixing Qiu, null null, Kota Watanabe, null null, Zhihong Wu, Jennifer E Posey, Shiro Ikegawa, James R. Lupski, Prudence Wing Hang Cheung, Terry Jianguo Zhang, Bo Gao, Nan Wu
Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations. Proceedings of the National Academy of Sciences of the United States of America 121 (18) (2024)
Adrian F Daly, Leslie A Dunnington, David F Rodriguez-Buritica, Erica Spiegel, Francesco Brancati, Giovanna Mantovani, Vandana M Rawal, Fabio Rueda Faucz, Hadia Hijazi, Jean-Hubert Caberg, Anna Maria Nardone, Mario Bengala, Paola Fortugno, Giulia Del Sindaco, Marta Ragonese, Helen Gould, Salvatore Cannavò, Patrick Pétrossians, Andrea Lania, James R. Lupski, Albert Beckers, Constantine A Stratakis, Brynn Levy, Giampaolo Trivellin, Martin Franke
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus. Genome medicine 16 (1) (2024)
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir S Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem A Alkhater, Fowzan Sami Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G El Said, Tawfiq Froukh, Harinder K Gill, Joseph G Gleeson, Laura Gogoll, Elaine Suk-Ying Goh, Vykuntaraju K Gowda, Tobias B Haack, Mais O Hashem, Stefan Hauser, Trevor L Hoffman, Jacob S Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G Karimiani, Silke Kaulfuß, G Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J Marco, Kirsty McWalter, Arakel Minassian, Berge A Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G Sadleir, Carol J Saunders, Ludger Schoels, Vandana Shashi, Rebecca C Spillmann, Varunvenkat M Srinivasan, Paria N Torbati, Tulay Tos, null null, Maha Saad Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M Durcan, Ziv Gan Or, Massimo Avoli, Cesar Alves, Guarav K Varshney, Reza Maroofian, David A Rudko, Peter S McPherson
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nature communications 15 (1) (2024)
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir S Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem A Alkhater, Fowzan Sami Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G El Said, Tawfiq Froukh, Harinder K Gill, Joseph G Gleeson, Laura Gogoll, Elaine Suk-Ying Goh, Vykuntaraju K Gowda, Tobias B Haack, Mais O Hashem, Stefan Hauser, Trevor L Hoffman, Jacob S Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G Karimiani, Silke Kaulfuß, G Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J Marco, Kirsty McWalter, Arakel Minassian, Berge A Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G Sadleir, Carol J Saunders, Ludger Schoels, Vandana Shashi, Rebecca C Spillmann, Varunvenkat M Srinivasan, Paria N Torbati, Tulay Tos, null null, Maha Saad Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M Durcan, Ziv Gan Or, Massimo Avoli, Cesar Alves, Guarav K Varshney, Reza Maroofian, David A Rudko, Peter S McPherson
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nature communications 15 (1) (2024)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Priya T Bhola, Radha Mishra, Jennifer E Posey, Leslie E Hamilton, Gail E Graham, Jaya Punetha, null null, James R. Lupski, Kym M Boycott, Damien D'Amours, Kristin D Kernohan
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature. American journal of medical genetics. Part A (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Hasnaa M Elbendary, Dana Marafi, Ahmed K Saad, Rasha Elhossini, Ruizhi Duan, Karima Rafat, Shalini N Jhangiani, Richard A Gibbs, Davut Pehlivan, Daniel G Calame, Jennifer E Posey, James R. Lupski, Maha Saad Zaki
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. Clinical genetics (2023)
Ruizhi Duan, Dana Marafi, Zhi-Jie Xia, Bobby G Ng, Reza Maroofian, Farhana Taher Sumya, Ahmed K Saad, Haowei Du, Jawid M Fatih, Jill V Hunter, Hasnaa M Elbendary, Shahid M Baig, Uzma Abdullah, Zafar Ali, Stephanie Efthymiou, David Murphy, Tadahiro Mitani, Marjorie A Withers, Shalini N Jhangiani, Zeynep Coban-Akdemir, Daniel G Calame, Davut Pehlivan, Richard A Gibbs, Jennifer E Posey, Henry Houlden, Vladimir V Lupashin, Maha S Zaki, Hudson H Freeze, James R. Lupski
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. Journal of inherited metabolic disease (2023)
Henrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, Magdalena Danyel, Nadja Ehmke, Corinna Stoltenburg, Nadirah Damseh, Motee Al-Ashhab, Tuğçe B Balcı, Matthew Osmond, Andrea Andrade, Jens Schallner, Joseph Porrmann, Kimberly McDonald, Mingjuan Liao, Henry Oppermann, Konrad Platzer, Nadine Dierksen, Majid Mojarrad, Atieh Eslahi, Behnaz Bakaeean, Daniel G Calame, James R. Lupski, Zahra Firoozfar, Seyed Mohammad Seyedhassani, Seyed Ahmad Mohammadi, Najwa Anwaar, Fatima Rahman, Dominik Seelow, Martin Janz, Denise Horn, Reza Maroofian, Felix Boschann
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. European journal of human genetics : EJHG (2023)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Christopher M Grochowski, Jesse D Bengtsson, Haowei Du, Mira Gandhi, Ming Yin Lun, Michele G Mehaffey, KyungHee Park, Wolfram Höps, Eva Benito-Garagorri, Patrick Hasenfeld, Jan O Korbel, Medhat Mahmoud, Luis F Paulin, Shalini N Jhangiani, Donna M Muzny, Jawid M Fatih, Richard A Gibbs, Matthew Pendleton, Eoghan Harrington, Sissel Juul, Anna Lindstrand, Fritz J Sedlazeck, Davut Pehlivan, James R. Lupski, Claudia M B Carvalho
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures. bioRxiv : the preprint server for biology (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci-Sparascio, Daniela Melis, Bruno Dallapiccola, Maria Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard Alan Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou Houge, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C Cox, Andrew K Groves, James R. Lupski, Qingguo Zhang, Yong-Biao Zhang, Stylianos E Antonarakis
FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nature communications 14 (1) (2023)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Sen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, Yuzhi Zuo, Xiaoxin Li, Dominyka Batkovskyte, Sen Liu, Hillevi Lindelöf, Shengru Wang, Anna Hammarsjö, Yang Yang, Yongyu Ye, Lianlei Wang, Zihui Yan, Jiachen Lin, Chenxi Yu, Zefu Chen, Yuchen Niu, Huizi Wang, Zhi Zhao, Pengfei Liu, Guixing Qiu, Jennifer E Posey, Zhihong Wu, James R. Lupski, Ieva Micule, Britt-Marie Anderlid, Ulrika Voss, Dennis Sulander, Ekaterina Kuchinskaya, Ann Nordgren, Ola Nilsson, null null, Terry Jianguo Zhang, Giedre Grigelioniene, Nan Wu
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders. NPJ genomic medicine 7 (1) (2022)
Varuna Chander, Medhat Mahmoud, Jianhong Hu, Zain Dardas, Christopher M Grochowski, Moez Dawood, Michael M Khayat, He Li, Shoudong Li, Shalini N. Jhangiani, Viktoriya Korchina, Hua Shen, George Weissenberger, Qingchang Meng, Marie-Claude Gingras, Donna M Muzny, Harsha Vardhan Doddapaneni, Jennifer E Posey, James R. Lupski, Aniko Sabo, David R Murdock, Fritz J Sedlazeck, Richard A Gibbs
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Human mutation (2022)
Grant J Brown, Pablo F Cañete, Hao Wang, Arti Medhavy, Josiah Bones, Jonathan A Roco, Yuke He, Yuting Qin, Jean Cappello, Julia I Ellyard, Katharine Bassett, Qian Shen, Gaetan Burgio, Yaoyuan Zhang, Cynthia Turnbull, Xiangpeng Meng, Phil Wu, Vicky Cho, Lisa A Miosge, T Daniel Andrews, Matthew A Field, Denis Tvorogov, Angel F Lopez, Jeffrey J Babon, Cristina Aparicio López, África Gónzalez-Murillo, Daniel Clemente Garulo, Virginia M Pascual, Tess Levy, Eric James Mallack, Daniel G Calame, Timothy Lotze, James R. Lupski, Huihua Ding, Tomalika R Ullah, Giles D Walters, Mark E Koina, Matthew C Cook, Nan Shen, Carmen de Lucas Collantes, Ben Corry, Michael P Gantier, Vicki Athanasopoulos, Carola G Vinuesa
TLR7 gain-of-function genetic variation causes human lupus. Nature 605 (7909) (2022)
Elifcan Taşdelen, Daniel G Calame, Gulsen Akay, Tadahiro Mitani, Jawid M Fatih, Isabella Herman, Haowei Du, Zeynep Coban-Akdemir, Dana Marafi, Shalini N Jhangiani, Jennifer E Posey, Richard A Gibbs, Taylan Altıparmak, Nüket Yürür Kutlay, James R. Lupski, Davut Pehlivan
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. American journal of medical genetics. Part A 188 (7) (2022)
Ariadne R Lima, Barbara M Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J White, Moez Dawood, Tulio C Lins, Marcela A Chiabai, Ellen van Beusekom, Mara S Cordoba, Erica C C Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri-Costa, Décio Brunoni, Talyta M Canó, Alexander A L Jorge, Chong A Kim, Rachel Honjo, Débora R Bertola, Raissa M Dandalo-Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz-Gulec, Evren Gumus, Gülay C Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban-Akdemir, Tadahiro Mitani, Shalini N Jhangiani, Donna M Muzny, Neysa A P Regattieri, Robert Pogue, Rinaldo W Pereira, Paulo A Otto, Richard A Gibbs, Bassam R Ali, Hans van Bokhoven, Han G Brunner, V Reid Sutton, James R. Lupski, Angela M Vianna-Morgante, Claudia M B Carvalho, Juliana Forte Mazzeu
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human mutation 43 (7) (2022)
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E Posey, Zeynep Coban-Akdemir, Tamar Harel, Christopher M Grochowski, Hailey Loucks, Walter Patrick Devine, Jessica Van Ziffle, Daniel A Doherty, James R. Lupski, Joseph T C Shieh
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. American journal of medical genetics. Part A 188 (8) (2022)
Daniel G Calame, Isabella Herman, Reza Maroofian, Aren E Marshall, Karina Carvalho Donis, Jawid M Fatih, Tadahiro Mitani, Haowei Du, Christopher M Grochowski, Sergio B Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko A Ito, Clarissa Rocca, Jill V Hunter, Vernon Reid Sutton, Lisa T Emrick, Kym M Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal W Saadi, Maha S Zaki, Arjan Bouman, Tahsin Stefan Barakat, David L Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh-Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Abbas Al-Sannaa, Giovanni Zifarelli, Peter Bauer, Simon C Robson, Zeynep Coban-Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N Jhangiani, Richard A Gibbs, Jennifer E Posey, Michael C Kruer, Kristin D Kernohan, Jonas A Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H Elsea, Davut Pehlivan, Dana Marafi, James R. Lupski
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Annals of neurology 92 (2) (2022)
Eliete da S Rodrigues, Sean Griffith, Renan Martin, Corina Antonescu, Jennifer E Posey, Zeynep Coban-Akdemir, Shalini N Jhangiani, Kimberly F Doheny, James R. Lupski, David Valle, Michael J Bamshad, Ada Hamosh, Assaf Sheffer, Jessica Xiao-Ling Chong, Yaron Einhorn, Miro Cupak, Nara Lygia de Macena Sobreira
Variant-level matching for diagnosis and discovery: Challenges and opportunities. Human mutation 43 (6) (2022)
Ahmed K Saad, Dana Marafi, Tadahiro Mitani, Haowei Du, Karima Rafat, Jawid M Fatih, Shalini N Jhangiani, Zeynep C Akdemir, null null, Richard A Gibbs, Davut Pehlivan, Jill V Hunter, Jennifer E Posey, Maha Saad Zaki, James R. Lupski
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. American journal of medical genetics. Part A 185 (4) (2021)
Isabella Herman, Angad Jolly, Haowei Du, Moez Dawood, Ghada M H Abdel-Salam, Dana Marafi, Tadahiro Mitani, Daniel G Calame, Zeynep Coban-Akdemir, Jawid M Fatih, Ibrahim Hegazy, Shalini N Jhangiani, Richard A Gibbs, Davut Pehlivan, Jennifer E Posey, James R. Lupski
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. American journal of medical genetics. Part A (2021)
Stephanie Efthymiou, Isabella Herman, Fatima Rahman, Najwa Anwar, Reza Maroofian, Janice Yip, Tadahiro Mitani, Daniel G Calame, Jill V Hunter, V Reid Sutton, Elif Yilmaz Gulec, Ruizhi Duan, Jawid M Fatih, Dana Marafi, Davut Pehlivan, Shalini N Jhangiani, Richard A Gibbs, Jennifer E Posey, null null, Shazia Maqbool, James R. Lupski, Henry Houlden
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. American journal of medical genetics. Part A 185 (7) (2021)
Ruizhi Duan, Nebal Waill Saadi, Christopher M Grochowski, Ghalia Y Bhadila, Afnan Faridoun, Tadahiro Mitani, Haowei Du, Jawid M Fatih, Shalini N Jhangiani, Zeynep C Akdemir, Richard A Gibbs, Davut Pehlivan, Jennifer E Posey, Dana Marafi, James R. Lupski
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. American journal of medical genetics. Part A 185 (7) (2021)
Daniel G Calame, Jawid Fatih, Isabella Herman, Zeynep Coban Akdemir, Haowei Du, Shalini N Jhangiani, Richard A Gibbs, Dana Marafi, Davut Pehlivan, Jennifer E Posey, Timothy Lotze, Pedro Mancias, Meenakshi Bidwai Bhattacharjee, James R. Lupski
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy. Neurology. Genetics 7 (3) (2021)
James R. Lupski
Clan genomics: From OMIM phenotypic traits to genes and biology. American journal of medical genetics. Part A 185 (11) (2021)
Carole Le Coz, David N Nguyen, Chun Su, Brian E Nolan, Amanda V Albrecht, Suela Xhani, Di Sun, Benjamin Demaree, Piyush Pillarisetti, Caroline Khanna, Francis Wright, Peixin Amy Chen, Samuel Yoon, Amy L Stiegler, Kelly Maurer, James P Garifallou, Amy Rymaszewski, Steven H Kroft, Timothy S Olson, Alix E Seif, Gerald B Wertheim, Struan F A Grant, Linda T Vo, Jennifer M Puck, Kathleen E Sullivan, John M Routes, Viktoria Zakharova, Anna Shcherbina, Anna A Mukhina, Natasha L Rudy, Anna C E Hurst, T Prescott Atkinson, Titus J Boggon, Hakon H Hakonarson, Adam R Abate, Joud Hajjar, Sarah K Nicholas, James R. Lupski, James Verbsky, Ivan K Chinn, Michael V Gonzalez, Andrew D Wells, Alexander Marson, Gregory M K Poon, Neil Romberg
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. The Journal of experimental medicine 218 (7) (2021)
Sonja Neuser, Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O'Grady, Michael Zech, Siddharth Srivastava, David A Sweetser, Yasemin Dincer, Volker Mall, Juliane Winkelmann, Christian Behrends, Basil T Darras, Robert J Graham, Parul Jayakar, Barry Byrne, Bat El Bar-Aluma, Yael Haberman, Amir Szeinberg, Hesham M Aldhalaan, Mais Hashem, Amal Al Tenaiji, Omar Ismayl, Asma E Al Nuaimi, Karima Maher, Shahnaz Ibrahim, Fatima Khan, Henry Houlden, Vijayalakshmi S Ramakumaran, Alistair T Pagnamenta, Jennifer E Posey, James R. Lupski, Wen-Hann Tan, Gehad ElGhazali, Isabella Herman, Tatiana Muñoz, Gabriela M Repetto, Angelika Seitz, Mandy Krumbiegel, Maria Cecilia Poli, Usha Kini, Stephanie Efthymiou, Jens Meiler, Reza Maroofian, Fowzan Sami Alkuraya, Rami Abou Jamra, Bernt Popp, Bruria Ben-Zeev, Darius Ebrahimi-Fakhari
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Human mutation 42 (6) (2021)
Daniel G Calame, Isabella Herman, Jawid M Fatih, Haowei Du, Gulsen Akay, Shalini N Jhangiani, Zeynep Coban-Akdemir, Dianna M Milewicz, Richard A Gibbs, Jennifer E Posey, Dana Marafi, Jill V Hunter, Yuxin Fan, James R. Lupski, Christina Y Miyake
Risk of sudden cardiac death in EXOSC5-related disease. American journal of medical genetics. Part A 185 (8) (2021)
Ivan K Chinn, Zhihui Xie, Eunice C Chan, Bianca M Nagata, Alexey Koval, Wei-Sheng Chen, Fan Zhang, Sundar Ganesan, Diana N Hong, Motoshi Suzuki, Glenn Nardone, Ian N Moore, Vladimir L Katanaev, Andrea E Balazs, Chengyu Liu, James R. Lupski, Jordan S Orange, Kirk M Druey
Short stature and combined immunodeficiency associated with mutations in RGS10. Science signaling 14 (693) (2021)
Ghada M H Abdel-Salam, Ruizhi Duan, Mohamed S Abdel-Hamid, Inas S M Sayed, Shalini N Jhangiani, Ziad Khan, Haowei Du, Richard A Gibbs, Jennifer E Posey, Dana Marafi, James R. Lupski
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. American journal of medical genetics. Part A (2021)
Michael M Khayat, He Li, Varuna Chander, Jianhong Hu, Adam W Hansen, Shoudong Li, Josh Traynelis, Hua Shen, George Weissenberger, Fabio Stossi, Hannah L Johnson, James R. Lupski, Jennifer E Posey, Aniko Sabo, Qingchang Meng, David R Murdock, Michael Wangler, Richard A Gibbs
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Human mutation 42 (5) (2021)
Daniel G Calame, Jawid M Fatih, Isabella Herman, Zeynep Coban-Akdemir, Haowei Du, Tadahiro Mitani, Shalini N Jhangiani, Dana Marafi, Richard A Gibbs, Jennifer E Posey, Vidya P Mehta, Carrie A Mohila, Farida Abid, Timothy E Lotze, Davut Pehlivan, Adekunle M Adesina, James R. Lupski
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Annals of clinical and translational neurology 8 (10) (2021)
Irma Järvelä, Tuomo Määttä, Anushree Acharya, Juha Leppälä, Shalini N Jhangiani, Maria Arvio, Auli Siren, Minna Kankuri-Tammilehto, Hannaleena Kokkonen, Maarit Palomäki, Teppo Varilo, Mary Fang, Trevor D Hadley, Angad Jolly, Tarja Linnankivi, Ritva Paetau, Anni Saarela, Reetta Kälviäinen, Jan Olme, Liz M Nouel-Saied, Diana M Cornejo-Sanchez, Lorida Llaci, James R. Lupski, Jennifer E Posey, Regie Lyn P Santos-Cortez, Isabelle Schrauwen
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Human genetics 140 (7) (2021)
Volkan Okur, Zefu Chen, Liesbeth Vossaert, Sandra Peacock, Jill Anne Rosenfeld, Lina Zhao, Haowei Du, Emily Calamaro, Amanda Gerard, Sen Zhao, Jill Kelsay, Ashley Lahr, Chloe Mighton, Hillary M Porter, Amy Siemon, Josh Silver, Shayna Svihovec, Chin-To Fong, Christina L Grant, Jordan Lerner-Ellis, Kandamurugu Manickam, Suneeta Madan-Khetarpal, Shawn E McCandless, Chantal F Morel, G Bradley Schaefer, Elizabeth M Berry-Kravis, Ryan Gates, Natalia Gomez-Ospina, Guixing Qiu, Terry Jianguo Zhang, Zhihong Wu, Linyan Meng, Pengfei Liu, Daryl A Scott, James R. Lupski, Christine M Eng, Nan Wu, Bo Yuan
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. NPJ genomic medicine 6 (1) (2021)
Morasha Plesser Duvdevani, Maria Pettersson, Jesper Eisfeldt, Ortal Avraham, Judith Dagan, Ayala Frumkin, James R. Lupski, Anna Lindstrand, Tamar Harel
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. American journal of medical genetics. Part A 182 (5) (2020)
Chaofan Zhang, Juliana Forte Mazzeu, Jesper Eisfeldt, Christopher M Grochowski, Janson White, Zeynep C Akdemir, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Anna Lindstrand, James R. Lupski, V Reid Sutton, Cláudia M B Carvalho
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. American journal of medical genetics. Part A 185 (12) (2020)
Sarah A Cook, William A Comrie, Maria Cecilia Poli, Morgan N Similuk, Andrew J Oler, Aiman J Faruqi, Douglas B Kuhns, Sheng Yang, Alexander Vargas-Hernández, Alexandre F Carisey, Benjamin Fournier, D Eric Anderson, Susan Price, Margery G Smelkinson, Wadih Abou Chahla, Lisa Forbes Satter, Emily M Mace, Tram N Cao, Zeynep C Akdemir, Shalini N. Jhangiani, Donna M Muzny, Richard A Gibbs, James R. Lupski, Jordan S Orange, Geoffrey D E Cuvelier, Moza Al Hassani, Nawal Al Kaabi, Zain Al Yafei, Soma Jyonouchi, Nikita Raje, Jason W Caldwell, Yanping Huang, Janis K Burkhardt, Sylvain Latour, Baoyu Chen, Gehad ElGhazali, V Koneti Rao, Ivan K Chinn, Michael J Lenardo
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science (New York, N.Y.) 369 (6500) (2020)

James R. Lupski.css-eqlu8i{font-size:small;padding-left:4px;} (James R Lupski, James Lupski)

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James R. Lupski (James R Lupski, James Lupski)