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Maya Chopra

department of neurology, boston children’s hospital , boston, ma 02115 ,
H指数:18
被引数:1,487

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ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Brivio E, et al. ADAT3变体破坏了ADAT tRNA脱氨酶复合物的活性并损害神经元迁移。Brain: J Neurol. (2025) 148:3407–21. doi: 10.1093/brain/awaf109

Brain
IF11.7
2025-03-220
OAAI
Jordi Del-Pozo-Rodriguez; Peggy Tilly; Romain Lecat; Hugo Rolando Vaca; Laureline Mosser; Elena Brivio; Till Balla; Marina Vitoria Gomes; Elizabeth Ramos-Morales; Noémie Schwaller; Thalia Salinas-Giegé; Grace VanNoy; Eleina M England; Alysia Kern Lovgren; Melanie O’Leary; Maya Chopra; Naomi Meave Ojeda; Mehran Beiraghi Toosi; Atieh Eslahi; Masoome Alerasool; Majid Mojarrad; Lynn S Pais; Rebecca C Yeh; Dustin L Gable; Mais O Hashem; Firdous Abdulwahab; Muath Rakiz Alqurashi; Loai Z Sbeih; Omar Abu Adas Blanco; Renad Abu Khater; Gabriela Oprea; Aboulfazl Rad; Hamad Alzaidan; Hesham Aldhalaan; Ehab Tous; Afaf Alsagheir; Mohammed Alowain; Abdullah Tamim; Khowlah Alfayez; Amal Alhashem; Aisha Alnuzha; Mona Kamel; Bashayer S Al-Awam; Walaa Elnaggar; Nihal Almenabawy; Anne O'Donnell-Luria; Jennifer E Neil; Joseph G Gleeson; Christopher A Walsh; Fowzan S Alkuraya; Lama AlAbdi; Nour Elkhateeb; Laila Selim; Siddharth Srivastava; Danny D Nedialkova; Laurence Drouard; Christophe Romier; Efil Bayam; Juliette D Godin
CIROZ is dispensable in ancestral vertebrates but essential for left in humans
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-02-010
PRE
Szenker-Ravi, Emmanuelle; Ott, Tim; Yusof, Amirah; Chopra, Maya; Khatoo, Muznah; Pak, Beatrice; Goh, Wei Xuan; Beckers, Anja; Brady, Angela F.; Ewans, Lisa J.; Djaziri, Nabila; Almontashiri, Naif A. M.; Alghamdi, Malak Ali; Alharby, Essa; Dasouki, Majed; Romo, Lindsay; Tan, Wen-Hann; Maddirevula, Sateesh; Alkuraya, Fowzan S.; Giordano, Jessica L.; Alkelai, Anna; Wapner, Ronald J.; Stals, Karen; Alfadhel, Majid; Alswaid, Abdulrahman Faiz; Bogusch, Susanne; Schafer-Kosulya, Anna; Vogel, Sebastian; Vick, Philipp; Schweickert, Axel; Wakeling, Matthew; Bellaing, Anne Moreau de; Alshamsi, Aisha M.; Sanlaville, Damien; Mbarek, Hamdi; Saad, Chadi; Ellard, Sian; Eisenhaber, Frank; Tripolszki, Kornelia; Beetz, Christian; Bauer, Peter; Gossler, Achim; Eisenhaber, Birgit; Blum, Martin; Bouvagnet, Patrice; Bertoli-Avella, Aida; Amiel, Jeanne; Gordon, Christopher T.; Reversade, Bruno
The expanding clinical and genetic spectrum of DYNC1H1-related disorders
BRAIN
IF11.7
2024-06-080
OAAI
Moeller, Birk; Becker, Lena-Luise; Saffari, Afshin; Afenjar, Alexandra; Coci, Emanuele G.; Williamson, Rachel; Ward-Melver, Catherine; Gibaud, Marc; Sedlackova, Lucie; Lassuthova, Petra; Liba, Zuzana; Vlckova, Marketa; William, Nancy; Klee, Eric W.; Gavrilova, Ralitza H.; Levy, Jonathan; Capri, Yline; Scavina, Mena; Koerner, Robert Walter; Valivullah, Zaheer; Weiss, Claudia; Moeller, Greta Marit; Frazier, Zoe; Roberts, Amy; Gener, Blanca; Scala, Marcello; Striano, Pasquale; Zara, Federico; Thiel, Moritz; Sinnema, Margje; Kamsteeg, Erik-Jan; Donkervoort, Sandra; Duboc, Veronique; Zaafrane-Khachnaoui, Khaoula; Elkhateeb, Nour; Selim, Laila; Margot, Henri; Marin, Victor; Beneteau, Claire; Isidor, Bertrand; Cogne, Benjamin; Keren, Boris; Kuesters, Benno; Beggs, Alan H.; Sveden, Abigail; Chopra, Maya; Genetti, Casie A.; Nicolai, Joost; Doetsch, Joerg; Koy, Anne; Boennemann, Carsten G.; von der Hagen, Maja; von Kleist-Retzow, Juergen-Christoph; Voermans, Nicol C.; Jungbluth, Heinz; Dafsari, Hormos Salimi
The Brain Gene Registry: a data snapshot
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
IF4
2024-04-170
OAAI
Baldridge, Dustin; Kaster, Levi; Sancimino, Catherine; Srivastava, Siddharth; Molholm, Sophie; Gupta, Aditi; Oh, Inez; Lanzotti, Virginia; Grewal, Daleep; Riggs, Erin Rooney; Savatt, Juliann M.; Hauck, Rachel; Sveden, Abigail; Constantino, John N.; Piven, Joseph; Gurnett, Christina A.; Chopra, Maya; Hazlett, Heather; Payne, Philip R. O.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-04-0114
OAAI
Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs
Mendelian etiologies identified with whole exome sequencing in cerebral palsy
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2022-01-2438
OA
Chopra, Maya; Gable, Dustin L.; Love-Nichols, Jamie; Tsao, Alexa; Rockowitz, Shira; Sliz, Piotr; Barkoudah, Elizabeth; Bastianelli, Lucia; Coulter, David; Davidson, Emily; DeGusmao, Claudio; Fogelman, David; Huth, Kathleen; Marshall, Paige; Nimec, Donna; Sanders, Jessica Solomon; Shore, Benjamin J.; Snyder, Brian; Stone, Scellig S. D.; Ubeda, Ana; Watkins, Colyn; Berde, Charles; Bolton, Jeffrey; Brownstein, Catherine; Costigan, Michael; Ebrahimi-Fakhari, Darius; Lai, Abbe; O'Donnell-Luria, Anne; Paciorkowski, Alex R.; Pinto, Anna; Pugh, John; Rodan, Lance; Roe, Eugene; Swanson, Lindsay; Zhang, Bo; Kruer, Michael C.; Sahin, Mustafa; Poduri, Annapurna; Srivastava, Siddharth
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-06-0117
OAAI
Chopra, Maya; McEntagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta M.; Kaur, Anupriya; Kaur, Parneet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia M. S.; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Kortuem, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra E.; Wilke, Martina; Thompson, Michelle L.; Bebin, E. Martina; Bijlsma, Emilia K.; Hoffer, Mariette J., V; Peeters-Scholte, Cacha; Slavotinek, Anne; Weiss, William A.; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; Monda, Janettedi; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; McKeown, Sarah; Helbig, Katherine; Willaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Yachelevich, Naomi; Lala, Sajel; Fernandez-Jaen, Alberto; Pelayo, Janvier Porta; Kloeckner, Chiara; Kamphausen, Susanne B.; Abou Jamra, Rami; Arelin, Maria; Innes, A. Micheil; Niskakoski, Anni; Amin, Sam; Williams, Maggie; Evans, Julie; Smithson, Sarah; Smedley, Damian; Burca, Annade; Kini, Usha; Delatycki, Martin B.; Gallacher, Lyndon; Yeung, Alison; Pais, Lynn; Field, Michael; Martin, Ellenore; Charles, Perrine; Courtin, Thomas; Keren, Boris; Iascone, Maria; Cereda, Anna; Poke, Gemma; Abadie, Veronique; Chalouhi, Christel; Parthasarathy, Padmini; Halliday, Benjamin J.; Robertson, Stephen P.; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder (vol 104, pg 319, 2019)
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2020-01-013
OAAI
Carapito, Raphael; Ivanova, Ekaterina L.; Morlon, Aurore; Meng, Linyan; Molitor, Anne; Erdmann, Eva; Kieffer, Bruno; Pichot, Angelique; Naegely, Lydie; Kolmer, Aline; Paul, NicodeMe; Hanauer, Antoine; Mau-Them, Frederic Tran; Jean-Marcais, Nolwenn; Hiatt, Susan M.; Cooper, Gregory M.; Tvrdik, Tatiana; Muir, Alison M.; Dimartino, Clemantine; Chopra, Maya; Amiel, Jeanne; Gordon, Christopher T.; Dutreux, Fabien; Garde, Aurore; Thauvin-Robinet, Christel; Wang, Xia; Leduc, Magalie S.; Phillips, Meredith; Crawford, Heather P.; Kukolich, Mary K.; Hunt, David; Harrison, Victoria; Kharbanda, Mira; Smigiel, Robert; Gold, Nina; Hung, Christina Y.; Viskochil, David H.; Dugan, Sarah L.; Bayrak-Toydemir, Pinar; Joly-Helas, Geraldine; Guerrot, Anne-Marie; Schluth-Bolard, Caroline; Rio, Marlene; Wentzensen, Ingrid M.; McWalter, Kirsty; Schnur, Rhonda E.; Lewis, Andrea M.; Lalani, Seema R.; Mensah-Bonsu, Noel; Ceraline, Jocelyn; Sun, Zijie; Ploski, Rafal; Bacino, Carlos A.; Mefford, Heather C.; Faivre, Laurence; Bodamer, Olaf; Chelly, Jamel; Isidor, Bertrand; Bahram, Seiamak
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2019-02-0134
OAAI
Carapito, Raphael; Ivanova, Ekaterina L.; Morlon, Aurore; Meng, Linyan; Molitor, Anne; Erdmann, Eva; Kieffer, Bruno; Pichot, Angelique; Naegely, Lydie; Kolmer, Aline; Paul, Nicodeme; Hanauer, Antoine; Mau-Them, Frederic Tran; Jean-Marcais, Nolwenn; Hiatt, Susan M.; Cooper, Gregory M.; Tvrdik, Tatiana; Muir, Alison M.; Dimartino, Clemantine; Chopra, Maya; Amiel, Jeanne; Gordon, Christopher T.; Dutreux, Fabien; Garde, Aurore; Thauvin-Robinet, Christel; Wang, Xia; Leduc, Magalie S.; Phillips, Meredith; Crawford, Heather P.; Kukolich, Mary K.; Hunt, David; Harrison, Victoria; Kharbanda, Mira; Smigiel, Robert; Gold, Nina; Hung, Christina Y.; Viskochil, David H.; Dugan, Sarah L.; Bayrak-Toydemir, Pinar; Joly-Helas, Geraldine; Guerrot, Anne-Marie; Schluth-Bolard, Caroline; Rio, Marlene; Wentzensen, Ingrid M.; McWalter, Kirsty; Schnur, Rhonda E.; Lewis, Andrea M.; Lalani, Seema R.; Mensah-Bonsu, Noel; Ceraline, Jocelyn; Sun, Zijie; Ploski, Rafal; Bacino, Carlos A.; Mefford, Heather C.; Faivre, Laurence; Bodamer, Olaf; Chelly, Jamel; Isidor, Bertrand; Bahram, Seiamak
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
GENETICS IN MEDICINE
IF6.2
2018-09-0134
OAAI
Lee, Eric; Le, Trang; Zhu, Ying; Elakis, George; Turner, Anne; Lo, William; Venselaar, Hanka; Verrenkamp, Carol-Ann; Snow, Nicole; Mowat, David; Kirk, Edwin Philip; Sachdev, Rani; Smith, Janine; Brown, Natasha Jane; Wallis, Mathew; Barnett, Chris; McKenzie, Fiona; Freckmann, Mary-Louise; Collins, Felicity; Chopra, Maya; Gregersen, Nerine; Hayes, Ian; Rajagopalan, Sulekha; Tan, Tiong Yang; Stark, Zornitza; Savarirayan, Ravi; Yeung, Alison; Ades, Lesley; Gattas, Michael; Gibson, Kate; Gabbett, Michael; Amor, David John; Lattanzi, Wanda; Boyd, Simeon; Haan, Eric; Gianoutsos, Mark; Cox, Timothy Chilton; Buckley, Michael Francis; Roscioli, Tony
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
HUMAN GENETICS
IF3.6
2016-04-1282
OAAI
Szafranski, Przemyslaw; Gambin, Tomasz; Dharmadhikari, Avinash V.; Akdemir, Kadir Caner; Jhangiani, Shalini N.; Schuette, Jennifer; Godiwala, Nihal; Yatsenko, Svetlana A.; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Surti, Urvashi; Abellar, Rosanna G.; Bateman, David A.; Wilson, Ashley L.; Markham, Melinda H.; Slamon, Jill; Santos-Simarro, Fernando; Palomares, Maria; Nevado, Julian; Lapunzina, Pablo; Chung, Brian Hon-Yin; Wong, Wai-Lap; Chu, Yoyo Wing Yiu; Mok, Gary Tsz Kin; Kerem, Eitan; Reiter, Joel; Ambalavanan, Namasivayam; Anderson, Scott A.; Kelly, David R.; Shieh, Joseph; Rosenthal, Taryn C.; Scheible, Kristin; Steiner, Laurie; Iqbal, M. Anwar; McKinnon, Margaret L.; Hamilton, Sara Jane; Schlade-Bartusiak, Kamilla; English, Dawn; Hendson, Glenda; Roeder, Elizabeth R.; DeNapoli, Thomas S.; Littlejohn, Rebecca Okashah; Wolff, Daynna J.; Wagner, Carol L.; Yeung, Alison; Francis, David; Fiorino, Elizabeth K.; Edelman, Morris; Fox, Joyce; Hayes, Denise A.; Janssens, Sandra; De Baere, Elfride; Menten, Bjorn; Loccufier, Anne; Vanwalleghem, Lieve; Moerman, Philippe; Sznajer, Yves; Lay, Amy S.; Kussmann, Jennifer L.; Chawla, Jasneek; Payton, Diane J.; Phillips, Gael E.; Brosens, Erwin; Tibboel, Dick; de Klein, Annelies; Maystadt, Isabelle; Fisher, Richard; Sebire, Neil; Male, Alison; Chopra, Maya; Pinner, Jason; Malcolm, Girvan; Peters, Gregory; Arbuckle, Susan; Lees, Melissa; Mead, Zoe; Quarrell, Oliver; Sayers, Richard; Owens, Martina; Shaw-Smith, Charles; Lioy, Janet; Mckay, Eileen; de Leeuw, Nicole; Feenstra, Ilse; Spruijt, Liesbeth; Elmslie, Frances; Thiruchelvam, Timothy; Bacino, Carlos A.; Langston, Claire; Lupski, James R.; Sen, Partha; Popek, Edwina; Stankiewicz, Pawel
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2016-04-0139
OAAI
Chong, Jessica X.; Caputo, Viviana; Phelps, Ian G.; Stella, Lorenzo; Worgan, Lisa; Dempsey, Jennifer C.; Alina Nguyen; Leuzzi, Vincenzo; Webster, Richard; Pizzuti, Antonio; Marvin, Colby T.; Ishak, Gisele E.; Ardern-Holmes, Simone; Richmond, Zara; Bamshad, Michael J.; Ortiz-Gonzalez, Xilma R.; Tartaglia, Marco; Chopra, Maya; Doherty, Dan

研究方向

暂未获取到该数据
S
Siddharth Srivastava
H 指数:30论文数:169被引数:3,927
A
Abigail Sveden
H 指数:9论文数:19被引数:423
J
Jeanne Amiel
H 指数:88论文数:644被引数:2.8万
C
Christopher T. Gordon
H 指数:38论文数:139被引数:4,964
M
Michael C. Kruer
H 指数:44论文数:219被引数:1.2万
M
Marlène Rio
H 指数:58论文数:258被引数:1.0万
G
Giulia Barcia
H 指数:32论文数:157被引数:3,476
M
Mustafa Kürşat Şahin
H 指数:13论文数:89被引数:1,263
A
Anne O’Donnell‐Luria
H 指数:61论文数:281被引数:3.8万
C
Christina A. Gurnett
H 指数:57论文数:207被引数:1.1万