June 28, 2024 | Genetics in Open Medicine
Carvalho Lab

Jakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, Marlene Ek, Christopher M. Grochowski, Ming Yin Lun, Alex Hastie, Susanne Rudolph, Sigrid Fuchs, Kornelia Neveling, Maja Hempel, Alexander Hoischen, Maria Pettersson, Claudia M.B. Carvalho, Jesper Eisfeldt, Anna Lindstrand

June 21, 2024 | Cell Genomics
Carvalho Lab

Christopher M. Grochowski, Jesse D. Bengtsson, Haowei Du, Mira Gandhi, Ming Yin Lun, Michele G. Mehaffey, KyungHee Park, Wolfram Hops, Eva Benito, Patrick Hasenfeld, Jan O. Korbel, Medhat Mahmoud, Luis F. Paulin, Shalini N. Jhangiani, James Paul Hwang, Sravya V. Bhamidipati, 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, and Claudia M.B. Carvalho

May 30, 2024 | Genome Medicine
Carvalho Lab

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 Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex & Alexandre Reymond

March 19, 2024 | Chromosome Research
Carvalho Lab

Silvia Souza da Costa, Veniamin Fishman, Mara Pinheiro, Andre Rodrigueiro, Maria Teresa Sanseverino, Paulo Zielinsky, Claudia M. B. Carvalho, Carla Rosenberg & Ana Cristina Victorino Krepischi

March 18, 2024 | medRxiv
Carvalho Lab

Medhat Mahmoud, John Harting, Holly Corbitt, Xiao Chen, Shalini N. Jhangiani, Harsha Doddapaneni, Qingchang Meng, Tina Han, Christine Lambert, Siyuan Zhang, Primo Baybayan, Geoff Henno, Hua Shen, Jianhong Hu, Yi Han, Casey Riegler, View ORCID ProfileGinger Metcalf, Geoff Henno, Ivan K. Chinn, View Michael A. Eberle, Sarah Kingan, Tim Farinholt, Claudia M.B. Carvalho, Richard A. Gibbs, Zev Kronenberg, Donna Muzny, Fritz J. Sedlazeck

February 14, 2024 | Genetics in Medicine Open
Carvalho Lab

Zeynep Coban-Akdemir, Xiaofei Song, Francisco C Ceballos, Davut Pehlivan, Ender Karaca, Yavuz Bayram, Tadahiro Mitani, Tomasz Gambin, Tugce Bozkurt Yozgatli, Shalini N Jhangiani, Donna M Muzny, Richard A Lewis, Pengfei Liu, Eric Boerwinkle, Ada Hamosh, Richard A Gibbs, V Reid Sutton, Nara Sobreira, Claudia MB Carvalho, Chad A Shaw, Jennifer E Posey, David Valle, James R Lupski

February 13, 2024 | European Journal of Human Genetics
Carvalho Lab

James Lupski, Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid Fatih, Omnia El-Rashidy, Christopher Grochowski, Claudia Carvalho, Shalini Jhangiani, Weimin Bi, Haowei Du, Richard Gibbs, Jennifer Posey, Daniel Calame, Maha Zaki

January 17, 2024 | medRxiv
Carvalho Lab

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 ELM Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M Butler, Michael J Lyons, Claudia MB 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 Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Ales Maver, Maria K Haanpää, Pia Pohjola, Harri Arikka, Christian Iseli, Nicolas Guex, Alexandre Reymond

January 2, 2024 | Nature Biotechnology
Carvalho Lab

Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Claudia MB Carvalho, Christos Proukakis, Fritz J Sedlazeck

January 1, 2024 | bioRxiv
Carvalho Lab

Luis Fernandez-Luna, Carlos Aguilar-Perez, Christopher M Grochowski, MIchele Mehaffey, Claudia MB Carvalho, Claudia Gonzaga-Jauregui

January 1, 2024 | EUROPEAN JOURNAL OF HUMAN GENETICS
Carvalho Lab

Siren Berland, Eirik Bratland, Lene Hjertnes, Tuva Baroy, Anna Lindstrand, Claudia Carvalho

January 1, 2024 | EUROPEAN JOURNAL OF HUMAN GENETICS
Carvalho Lab

Ana Krepischi, Silvia Souza da Costa, Andre Rodrigueiro Clavisio Pereira de Oliveira, Mara Pinheiro, Maria Teresa Sanseverino, Veniamin Fishman, Claudia Carvalho, Carla Rosenberg

January 1, 2024 | EUROPEAN JOURNAL OF HUMAN GENETICS
Carvalho Lab

Jakob Schuy, Kristine Bilgrav Saether, Jasmin Lisfeld, Marlene Ek, Christopher M Grochowski, Susanne Rudolph, Sigrid Fuchs, Kornelia Neveling, Maja Hempel, Alexander Hoischen, Alex Hastie, Claudia Carvalho, Jesper Eisfeldt, Anna Lindstrand

December 28, 2023 | Nucleic Acids Research
Carvalho Lab

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, Claudia Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R Lupski

December 21, 2023 | Stem Cell Research
Carvalho Lab

Danielle Mendonca, Gerarda Cappuccio, Jennifer Sheppard, Magdalena Delacruz, Jesse Bengtsson, Claudia MB Carvalho, Aleksandar Bajic, Hyekyung Park, Jean J Kim, Paymaan Jafar-Nejad, Christine Coquery, Davut Pehlivan, Bernhard Suter, Mirjana Maletic-Savatic

December 13, 2023 | Research Square
Carvalho Lab

Silvia Souza Costa, Veniamin Fishman, Mara Pinheiro, Andre Rodrigueiro, Maria Teresa Sanseverino, Paulo Zielinsky, Claudia M. B. Carvalho, Carla Rosenberg, Ana Cristina Victorino Krepischi

October 3, 2023 | bioRxiv
Carvalho Lab

Christopher M Grochowski, Jesse D Bengtsson, Haowei Du, Mira Gandhi, Ming Yin Lun, Michele G Mehaffey, KyungHee Park, Wolfram Hoeps, Eva Benito-Garagorri, Patrick Hasenfeld, Jan O Korbel, Medhat Mahmoud, Luis F Paulin, Shalini N Jhangiani, Donna M Muzny, Jawid M Faith, Richard A Gibbs, Matthew Pendleton, Eoghan Harrington, Sissel Juul, Anna Lindstrand, Fritz J Sedlazeck, Davut Pehlivan, James R Lupski, Claudia MB Carvalho

October 1, 2023 | Research and Practice in Thrombosis and Haemostasis
Carvalho Lab

S Fahiminiya, S Oikonomopoulos, G Rivard, M Gandhi, P Scott, A Montpetit, S Chen, K Park, C Vezina, J St-Louis, J Ragoussis, C Carvalho, G Mitchell, J Soucy, J Gauthier

March 10, 2023 | Haemophilia
Carvalho Lab

Somayyeh Fahiminiya, Spyros Oikonomopoulos, Georges-Etienne Rivard, Mira Gandhi, Patrick Scott, Alexandre Montpetit, Shu-Huang Chen, KyungHee Park, Catherine Vezina, Jiannis Ragoussis, Claudia M. B. Carvalho, Grant A. Mitchell, Jean-Francois Soucy, Julie Gauthier

March 1, 2023 | American Journal of Medical Genetics Part A
Carvalho Lab

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, Claudia M. B. Carvalho, Richard A. Gibbs, James R. Lupski

November 10, 2022 | Am J Hum Genet.
Carvalho Lab

Hadia Hijazi, Linda M Reis, Davut Pehlivan, Jonathan A Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A Estiar, Ziv Gan-Or, Guy A Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agnès Guichet, Dominique Bonneau, R H van Jaarsveld, A M A Lachmeijer, Lyse Ruaud, Jonathan Levy, Anne-Claude Tabet, Rafal Ploski, Małgorzata Rydzanicz, Łukasz Kępczyński, Katarzyna Połatyńska, Yidan Li, Jawid M Fatih, Dana Marafi, Jill A Rosenfeld, Zeynep Coban-Akdemir, Weimin Bi, Richard A Gibbs, Grace M Hobson, Jill V Hunter, Cláudia M B Carvalho, Jennifer E Posey, Elena V Semina, James R Lupski

October 27, 2022 | Genome Med.
Carvalho Lab

Haowei Du, Angad Jolly, Christopher M Grochowski, Bo Yuan, Moez Dawood, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Zeynep Coban-Akdemir, Mary Esther Carlin, Angela E Scheuerle, Karin Witzl, Jennifer E Posey, Matthew Pendleton, Eoghan Harrington, Sissel Juul, P J Hastings, Weimin Bi, Richard A Gibbs, Fritz J Sedlazeck, James R Lupski, Cláudia M B Carvalho, Pengfei Liu

October 13, 2022 | Human Genetics and Genomics Advances
Carvalho Lab

Ruizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, Hatice Koçak Eker, Silvia R Costa, Yavuz Sahin, Zeynep Ocak, Sedat Isikay, Ozge Ozalp, Sevcan Bozdogan, Huseyin Aslan, Nursel Elcioglu, Débora R Bertola, Alper Gezdirici, Haowei Du, Jawid M Fatih, Christopher M Grochowski, Gulsen Akay, Shalini N Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban-Akdemir, Jennifer E Posey, Yavuz Bayram, V Reid Sutton, Claudia MB Carvalho, Davut Pehlivan, Richard A Gibbs, James R Lupski

October 1, 2022 | Annals of Neurology
Carvalho Lab

Davut Pehlivan, Mira Gandhi, Christopher M Grochowski, Sameer S Bajikar, Holly K Harris, Bernhard Suter, Haowei Du, Shalini N Jhangiani, Donna M Muzny, Jawid M Fatih, Michele G Mehaffey, KyungHee Park, Daniel G Glaze, Richard A Gibbs, Anna Lindstrand, James R Lupski, Fritz J Sedlazeck, Huda Y Zoghbi, Claudia Carvalho

September 1, 2022 | Brain
Carvalho Lab

Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, Björn Schulte, Kristin G Monaghan, Amber Begtrup, Annalaura Torella, Michele Pinelli, Anne Sophie Denommé-Pichon, Antonio Vitobello, Caroline Racine, Maria Margherita Mancardi, Courtney Kiss, Andrea Guerin, Wendy Wu, Elisabeth Gabau Vila, Bryan C Mak, Julian A Martinez-Agosto, Michael B Gorin, Bugrahan Duz, Yavuz Bayram, Claudia MB Carvalho, Jaime E Vengoechea, David Chitayat, Tiong Yang Tan, Bert Callewaert, Bernd Kruse, Lynne M Bird, Laurence Faivre, Marcella Zollino, Saskia Biskup, Pasquale Striano, Vincenzo Nigro, Mariasavina Severino, Valeria Capra, Gregory Costain, Koh ichi Nagata

July 9, 2022 | Trends Genet.
Carvalho Lab

Jakob Schuy, Christopher M Grochowski, Cláudia M B Carvalho, Anna Lindstrand

July 1, 2022 | Human Mutation
Carvalho Lab

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 CC Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri‐Costa, Décio Brunoni, Talyta M Canó, Alexander AL 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 AP 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 MB Carvalho, Juliana F Mazzeu

July 1, 2022 | Human Mutation
Carvalho Lab

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 CC Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri‐Costa, Décio Brunoni, Talyta M Canó, Alexander AL 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 AP 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 MB Carvalho, Juliana F Mazzeu

April 5, 2022 | bioRxiv
Carvalho Lab

Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Medhat Mahmoud, Sairam Behera, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Claudia MB Carvalho, Christos Proukakis, Fritz J Sedlazeck

April 1, 2022 | European Journal of Human Genetics
Carvalho Lab

Zeynep Hande Coban Akdemir, Xiaofei Song, Davut Pehlivan, Ender Karaca, Yavuz Bayram, Francisco Ceballos, Tomasz Gambin, Shalini Jhangiani, Donna Muzny, Richard Lewis, Pengfei Liu, Eric Boerwinkle, Ada Hamosh, Richard Gibbs, V Reid Sutton, Nara Sobreira, Claudia Carvalho, Jennifer Posey, Chad Shaw, Dave Valle, James Lupski

April 1, 2022 | European Journal of Human Genetics
Carvalho Lab

Christopher M Grochowski, Lorraine Potocki, Anna Lindstrand, Claudia Carvalho, James R Lupski

April 1, 2022 | European Journal of Human Genetics
Carvalho Lab

Moez Dawood, Gulsen Akay, Tadahiro Mitani, Jawid M Fatih, Jaya Punetha, Jaya Punetha, Dana Marafi, Christopher M Grochowski, Haowei Du, Angad Jolly, Zeynep Coban-Akdemir, Shalini N Jhangiani, Jill V Hunter, Davut Pehlivan, Jennifer E Posey, Claudia Carvalho, Richard A Gibbs, James R Lupsk

February 9, 2022 | Genet Med.
Carvalho Lab

Samantha M Baxter, Jennifer E Posey, Nicole J Lake, Nara Sobreira, Jessica X Chong, Steven Buyske, Elizabeth E Blue, Lisa H Chadwick, Zeynep H Coban-Akdemir, Kimberly F Doheny, Colleen P Davis, Monkol Lek, Christopher Wellington, Shalini N Jhangiani, Mark Gerstein, Richard A Gibbs,Richard P Lifton, Daniel G MacArthur, Tara C Matise, James R Lupski, David Valle, Michael J Bamshad, Ada Hamosh, Shrikant Mane, Deborah A Nickerson; Centers for Mendelian Genomics Consortium; Heidi L Rehm, Anne O’Donnell-Luria

January 13, 2022 | HGG Adv.
Carvalho Lab

Chaofan Zhang, Angad Jolly, Brian J Shayota, Juliana F Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper , Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N Jhangiani, Lorraine Potocki, Wendy K Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A Rosenfeld, Kati Mason, Lynda C Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S Hauser, Peter Leahy, Cynthia M Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M Muzny, Richard A Gibbs, Jennifer E Posey, Pengfei Liu, James R Lupski, V Reid Sutton, Cláudia M B Carvalho

January 12, 2022 | American Journal of Medical Genetics Part A
Carvalho Lab

David D Schwartz, Rachel H Fein, Claudia MB Carvalho, V Reid Sutton, Juliana F Mazzeu, Marni E Axelrad

January 11, 2022 | Plant and Animal Genome XXIX Conference (January 8-12, 2022)
Carvalho Lab

Moritz Smolka, Luis Paulin, Claudia Carvalho, Christos Proukakis, Fritz J Sedlazeck

January 10, 2022 | HGG advances 2022
Carvalho Lab

Ruizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, Hatice Koçak Eker, Silvia R Costa, Yavuz Sahin, Zeynep Ocak, Sedat Isikay, Ozge Ozalp, Sevcan Bozdogan, Huseyin Aslan, Nursel Elcioglu, Débora R Bertola, Alper Gezdirici, Haowei Du, Jawid M Fatih, Christopher M Grochowski, Gulsen Akay, Shalini N Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban-Akdemir, Jennifer E Posey, Yavuz Bayram, V Reid Sutton, Claudia MB Carvalho, Davut Pehlivan, Richard A Gibbs, James R Lupski

December 31, 2021 | American Journal of Medical Genetics Part A
Carvalho Lab

Amjed Abu‐Ghname, Jeffrey Trost, Matthew J Davis, V Reid Sutton, Chaofan Zhang, Diana E Guillen, Claudia MB Carvalho, Renata S Maricevich

December 30, 2021 | American Journal of Medical Genetics Part A
Carvalho Lab

Chaofan Zhang, Juliana F 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, Claudia MB Carvalho

December 29, 2021 | American Journal of Medical Genetics Part A
Carvalho Lab

Christopher J Conlon, Amjed Abu‐Ghname, Anjali C Raghuram, Matthew J Davis, Diana E Guillen, V Reid Sutton, Claudia MB Carvalho, Renata S Maricevich

October 7, 2021 | The American Journal of Human Genetics
Carvalho Lab

Tadahiro Mitani, Sedat Isikay, Alper Gezdirici, Elif Yilmaz Gulec, Jaya Punetha, Jawid M Fatih, Isabella Herman, Gulsen Akay, Haowei Du, Daniel G Calame, Akif Ayaz, Tulay Tos, Gozde Yesil, Hatip Aydin, Bilgen Geckinli, Nursel Elcioglu, Sukru Candan, Ozlem Sezer, Haktan Bagis Erdem, Davut Gul, Emine Demiral, Muhsin Elmas, Osman Yesilbas, Betul Kilic, Serdal Gungor, Ahmet C Ceylan, Sevcan Bozdogan, Ozge Ozalp, Salih Cicek, Huseyin Aslan, Sinem Yalcintepe, Vehap Topcu, Yavuz Bayram, Christopher M Grochowski, Angad Jolly, Moez Dawood, Ruizhi Duan, Shalini N Jhangiani, Harsha Doddapaneni, Jianhong Hu, Donna M Muzny, Dana Marafi, Zeynep Coban Akdemir, Ender Karaca, Claudia MB Carvalho, Richard A Gibbs, Jennifer E Posey, James R Lupski, Davut Pehlivan

October 1, 2021 | Annals of Neurology
Carvalho Lab

Davut Pehlivan, Tadahiro Mitani, Jawid M Fatih, Isabella Herman, Daniel G Calame, Gulsen Akay, Haowei Du, Christopher M Grochowski, Angad Jolly, Moez Dawood, Ruizhi Duan, Shalini Jhangiani, Dana Marafi, Zeynep Coban Akdemir, Claudia Carvalho, Richard A Gibbs, James R Lupski, Jennifer E Posey

September 30, 2021 | The American Journal of Human Genetics
Carvalho Lab

Osman Yesilbas, Betul Kilic, Serdal Gungor, Ahmet C Ceylan, Sevcan Bozdogan

August 26, 2021 | Frontiers in Genetics
Carvalho Lab

Christopher M Grochowski, Ana CV Krepischi, Jesper Eisfeldt, Haowei Du, Debora R Bertola, Danyllo Oliveira, Silvia S Costa, James R Lupski, Anna Lindstrand, Claudia MB Carvalho

November 1, 2020 | American Journal of Medical Genetics Part A
Carvalho Lab

Brian J Shayota, Chaofan Zhang, Roman J Shypailo, Juliana F Mazzeu, Claudia MB Carvalho, V Reid Sutton

October 2, 2020 | Expert Review of Molecular Diagnostics
Carvalho Lab

James R Lupski, Pengfei Liu, Pawel Stankiewicz, Claudia MB Carvalho, Jennifer E Posey

October 1, 2020 | Hum Mutat.
Carvalho Lab

Maria Pettersson, Christopher M Grochowski, Josephine Wincent, Jesper Eisfeldt, Amy M Breman, Sau W Cheung, Ana C V Krepischi, Carla Rosenberg, James R Lupski, Jesper Ottosson, Lovisa Lovmar, Jelena Gacic, Elisabeth S Lundberg, Daniel Nilsson, Cláudia M B Carvalho, Anna Lindstrand

September 16, 2020 | F1000Research
Carvalho Lab

Medhat Mahmoud, Alejandro Rafael Gener, Michael M Khayat, Adam C English, Advait Balaji, Anbo Zhou, Andreas Hehn, Arkarachai Fungtammasan, Brianna Sierra Chrisman, Chen-Shan Chin, Chiao-Feng Lin, Chun-Hsuan Lo, Chunxiao Liao, Claudia MB Carvalho, Colin Diesh, David E Symer, Divya Kalra, Dreycey Albin, Elbay Aliyev, Eric T Dawson, Eric Venner, Fernanda Foertter, Gigon Bae, Haowei Du, Joyjit Daw, Junzhou Wang, Keiko Akagi, Lon Phan, Michael Jochum, Mohammadamin Edrisi, Nirav N Shah, Qi Wang, Robert Fullem, Rong Zheng, Sara E Kalla, Shakuntala Mitra, Todd J Treangen, Vaidhyanathan Mahaganapathy, Venkat Sai Malladi, Vipin K Menon, Yilei Fu, Yongze Yin, Yuanqing Feng, Tim Hefferon, Fritz J Sedlazeck, Ben Busby

May 1, 2020 | Biological Psychiatry
Carvalho Lab

Deborah Levy, Charity Morgan, J Alexander Bodkin, Michael Coleman, Laura Godfrey, Claudia Carvalho, Christopher Grochowski, Marc Kaufman, J Eric Jensen, TCW Julia, Kristen Brennand, Shane McCarthy, Dheeraj Malhotra, Jonathan Sebat, Donald Goff, James Lupski, Joseph Coyle, Uwe Rudolph

April 28, 2020 | bioRxiv
Carvalho Lab

Zeynep Coban-Akdemir, Xiaofei Song, Francisco C Ceballos, Davut Pehlivan, Ender Karaca, Yavuz Bayram, Tadahiro Mitani, Tomasz Gambin, Shalini N Jhangiani, Donna M Muzny, Richard A Lewis, Baylor Hopkins Center for Mendelian Genomics, Pengfei Liu, Eric Boerwinkle, Ada Hamosh, Richard A Gibbs, V Reid Sutton, Nara Sobreira, Claudia MB Carvalho, Chad A Shaw, Jennifer E Posey, David Valle, James R Lupski

January 1, 2020 | Molecular Genetics & Genomic Medicine
Carvalho Lab

Mao Lin, Zhenlei Liu, Gang Liu, Sen Zhao, Chao Li, Weisheng Chen, Zeynep Coban Akdemir, Jiachen Lin, Xiaofei Song, Shengru Wang, Qiming Xu, Yanxue Zhao, Lianlei Wang, Yuanqiang Zhang, Zihui Yan, Sen Liu, Jiaqi Liu, Yixin Chen, Yuzhi Zuo, Xu Yang, Tianshu Sun, Xin‐Zhuang Yang, Yuchen Niu, Xiaoxin Li, Wesley You, Bintao Qiu, Chen Ding, Pengfei Liu, Shuyang Zhang, Claudia MB Carvalho, Jennifer E Posey, Guixing Qiu, Deciphering Disorders Involving Scoliosis and Comorbidities (DISCO) study, James R Lupski, Zhihong Wu, Jianguo Zhang, Nan Wu

January 1, 2020 | Human Mutation
Carvalho Lab

Hadia Hijazi, Fernanda S Coelho, Claudia Gonzaga‐Jauregui, Laura Bernardini, Soe S Mar, Melanie A Manning, Andrea Hanson‐Kahn, SakkuBai Naidu, Siddharth Srivastava, Jennifer A Lee, Julie R Jones, Michael J Friez, Thomas Alberico, Barbara Torres, Ping Fang, Sau Wai Cheung, Xiaofei Song, Angelique Davis‐Williams, Carly Jornlin, Patricia A Wight, Pankaj Patyal, Jennifer Taube, Andrea Poretti, Ken Inoue, Feng Zhang, Davut Pehlivan, Claudia MB Carvalho, Grace M Hobson, James R Lupski

December 31, 2019 | Genome Medicine
Carvalho Lab

Vahid Bahrambeigi, Xiaofei Song, Karen Sperle, Christine R Beck, Hadia Hijazi, Christopher M Grochowski, Shen Gu, Pavel Seeman, Karen J Woodward, Claudia Carvalho, Grace M Hobson, James R Lupski

December 30, 2019 | Genome Medicine
Carvalho Lab

Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia Carvalho, Malin Kvarnung, Giedre Grigelioniene, Britt-Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö, Patrik Georgii-Hemming, Erik Iwarsson, Maria Johansson-Soller, Kristina Lagerstedt-Robinson, Agne Lieden, Måns Magnusson, Marcel Martin, Helena Malmgren, Magnus Nordenskjöld, Ameli Norling, Ellika Sahlin, Henrik Stranneheim, Emma Tham, Josephine Wincent, Sofia Ygberg, Anna Wedell, Valtteri Wirta, Ann Nordgren, Johanna Lundin, Daniel Nilsson

December 29, 2019 | Genome Medicine
Carvalho Lab

Claudia MB Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J Turner, Rupa S Kanchi, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Baylor-Hopkins Center for Mendelian Genomics, Pawel Stankiewicz, John W Belmont, Chad A Shaw, Sau Wai Cheung, Neil A Hanchard, V Reid Sutton, Patricia I Bader, James R Lupski

December 1, 2019 | Clinical Epigenetics
Carvalho Lab

Katharina V Schulze, Przemyslaw Szafranski, Harry Lesmana, Robert J Hopkin, Aaron Hamvas, Jennifer A Wambach, Marwan Shinawi, Gladys Zapata, Claudia Carvalho, Qian Liu, Justyna A Karolak, James R Lupski, Neil A Hanchard, Paweł Stankiewicz

November 1, 2019 | International Journal of Systematic and Evolutionary Microbiology
Carvalho Lab

Marilinda Lorenzini, Giacomo Zapparoli, Michela Azzolini, Cláudia Carvalho, José Paulo Sampaio

October 1, 2019 | Biological Psychiatry
Carvalho Lab

J Alexander Bodkin, Michael J Coleman, Laura J Godfrey, Claudia MB Carvalho, Charity J Morgan, Raymond F Suckow, Thea Anderson, Dost Öngür, Marc J Kaufman, Kathryn E Lewandowski, Arthur J Siegel, Elliot Waldstreicher, Christopher M Grochowski, Daniel C Javitt, Dan Rujescu, Scott Hebbring, Richard Weinshilboum, Stephanie Burgos Rodriguez, Colette Kirchhoff, Timothy Visscher, Alexander Vuckovic, Allison Fialkowski, Shane McCarthy, Dheeraj Malhotra, Jonathan Sebat, Donald C Goff, James I Hudson, James R Lupski, Joseph T Coyle, Uwe Rudolph, Deborah L Levy

April 1, 2019 | Genetics in Medicine
Carvalho Lab

Jennifer E Posey, Anne H O’Donnell-Luria, Jessica X Chong, Tamar Harel, Shalini N Jhangiani, Zeynep H Coban Akdemir, Steven Buyske, Davut Pehlivan, Claudia MB Carvalho, Samantha Baxter, Nara Sobreira, Pengfei Liu, Nan Wu, Jill A Rosenfeld, Sushant Kumar, Dimitri Avramopoulos, Janson J White, Kimberly F Doheny, P Dane Witmer, Corinne Boehm, V Reid Sutton, Donna M Muzny, Eric Boerwinkle, Murat Günel, Deborah A Nickerson, Shrikant Mane, Daniel G MacArthur, Richard A Gibbs, Ada Hamosh, Richard P Lifton, Tara C Matise, Heidi L Rehm, Mark Gerstein, Michael J Bamshad, David Valle, James R Lupski, Centers for Mendelian Genomics

February 28, 2019 | Cell
Carvalho Lab

Christine R Beck, Claudia MB Carvalho, Zeynep C Akdemir, Fritz J Sedlazeck, Xiaofei Song, Qingchang Meng, Jianhong Hu, Harsha Doddapaneni, Zechen Chong, Edward S Chen, Philip C Thornton, Pengfei Liu, Bo Yuan, Marjorie Withers, Shalini N Jhangiani, Divya Kalra, Kimberly Walker, Adam C English, Yi Han, Ken Chen, Donna M Muzny, Grzegorz Ira, Chad A Shaw, Richard A Gibbs, PJ Hastings, James R Lupski

February 18, 2019 | Communications Biology
Carvalho Lab

Dimitre R Simeonov, Alexander J Brandt, Alice Y Chan, Jessica T Cortez, Zhongmei Li, Jonathan M Woo, Youjin Lee, Claudia MB Carvalho, Alyssa C Indart, Theodore L Roth, James Zou, Andrew P May, James R Lupski, Mark S Anderson, F William Buaas, Daniel S Rokhsar, Alexander Marson

February 8, 2019 | PLoS Genetics
Carvalho Lab

Jesper Eisfeldt, Maria Pettersson, Francesco Vezzi, Josephine Wincent, Max Käller, Joel Gruselius, Daniel Nilsson, Elisabeth Syk Lundberg, Claudia MB Carvalho, Anna Lindstrand

October 1, 2018 | Journal of the Endocrine Society
Carvalho Lab

Giampaolo Trivellin, Erin Sharwood, Hadia Hijazi, Claudia MB Carvalho, Bo Yuan, Katrina Tatton-Brown, David Coman, James R Lupski, Andrew M Cotterill, Maya B Lodish, Constantine A Stratakis

October 1, 2018 | Human Mutation
Carvalho Lab

Maria Pettersson, Raquel Vaz, Anna Hammarsjö, Jesper Eisfeldt, Claudia MB Carvalho, Wolfgang Hofmeister, Emma Tham, Eva Horemuzova, Ulrika Voss, Gen Nishimura, Bo Klintberg, Ann Nordgren, Daniel Nilsson, Giedre Grigelioniene, Anna Lindstrand

October 1, 2018 | European Journal of Human Genetic
Carvalho Lab

CD Durmaz, Y Bayram, JJ White, Z Coban Akdemir, SN Jhangiani, RA Gibbs, CMB Carvalho, JR Lupski, OS Fitoz, HG Karabulut

October 1, 2018 | European Journal of Human Genetics
Carvalho Lab

FS Jehee, VT de Oliveira, J Gurgel-Giannetti, RX Pietra, FVM Rubatino, NV Carobin, GS Vianna, ML de Freitas, KS Fernandes, BSV Ribeiro, HT Bruggenwirth, R Ali-Amin, JJ White, ZC Akdemir, SN Jhangiani, RA Gibbs, JR Lupski, MC Varela, CP Koiffmann, C Rosenberg, CMB Carvalho

October 1, 2018 | European Journal of Human Genetics
Carvalho Lab

JF Mazzeu, JJ White, Y Bayrum, ZC Akdemir, A Hoischen, BWM van Bon, SN Jhangiani, RA Gibbs, HG Brunner, VR Sutton, JR Lupski, C Carvalho

August 2, 2018 | The American Journal of Human Genetics
Carvalho Lab

Zeynep Coban-Akdemir, Janson J White, Xiaofei Song, Shalini N Jhangiani, Jawid M Fatih, Tomasz Gambin, Yavuz Bayram, Ivan K Chinn, Ender Karaca, Jaya Punetha, Cecilia Poli, Eric Boerwinkle, Chad A Shaw, Jordan S Orange, Richard A Gibbs, Tuuli Lappalainen, James R Lupski, Claudia MB Carvalho

August 1, 2018 | International Journal of Systematic and Evolutionary Microbiology
Carvalho Lab

Cláudia Carvalho, André Tomás, Diego Libkind, Yumi Imanishi, José Paulo Sampaio

August 1, 2018 | Human Mutation
Carvalho Lab

Christopher M Grochowski, Shen Gu, Bo Yuan, Julia Tcw, Kristen J Brennand, Jonathan Sebat, Dheeraj Malhotra, Shane McCarthy, Uwe Rudolph, Anna Lindstrand, Zechen Chong, Deborah L Levy, James R Lupski, Claudia MB Carvalho

May 24, 2018 | The American Journal of Human Genetics
Carvalho Lab

M Cecilia Poli, Frédéric Ebstein, Sarah K Nicholas, Marietta M de Guzman, Lisa R Forbes, Ivan K Chinn, Emily M Mace, Tiphanie P Vogel, Alexandre F Carisey, Felipe Benavides, Zeynep H Coban-Akdemir, Richard A Gibbs, Shalini N Jhangiani, Donna M Muzny, Claudia MB Carvalho, Deborah A Schady, Mahim Jain, Jill A Rosenfeld, Lisa Emrick, Richard A Lewis, Brendan Lee, Barbara A Zieba, Sébastien Küry, Elke Krüger, James R Lupski, Bret L Bostwick, Jordan S Orange

January 4, 2018 | The American Journal of Human Genetics
Carvalho Lab

Janson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, Yavuz Bayram, Vahid Bahrambeigi, Alexander Hoischen, Bregje WM van Bon, Alper Gezdirici, Elif Yilmaz Gulec, Francis Ramond, Renaud Touraine, Julien Thevenon, Marwan Shinawi, Erin Beaver, Jennifer Heeley, Julie Hoover-Fong, Ceren D Durmaz, Halil Gurhan Karabulut, Ebru Marzioglu-Ozdemir, Atilla Cayir, Mehmet B Duz, Mehmet Seven, Susan Price, Barbara Merfort Ferreira, Angela M Vianna-Morgante, Sian Ellard, Andrew Parrish, Karen Stals, Josue Flores-Daboub, Shalini N Jhangiani, Richard A Gibbs, Han G Brunner, V Reid Sutton, James R Lupski, Claudia MB Carvalho

January 1, 2018 | The American Journal of Human Genetics
Carvalho Lab

MARIA CECILIA BERTA POLI HARLOWE, Frédéric Ebstein, Sarah K Nicholas, Marietta M de Guzman, Lisa R Forbes, Ivan K Chinn, Emily M Mace, Tiphanie P Vogel, Alexandre F Carisey, Felipe Benavides, Zeynep H Coban-Akdemir, Richard A Gibbs, Shalini N Jhangiani, Donna M Muzny, Claudia MB Carvalho, Deborah A Schady, Mahim Jain, Jill A Rosenfeld, Lisa Emrick, Richard A Lewis, Brendan Lee, Barbara A Zieba, Sébastien Küry, Elke Krüger, James R Lupski, Bret L Bostwick, Jordan S Orange