Vinodh Narayanan

Translational Genomics Research Institute

H指数:37

被引数:5,277

个人简介

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教育背景

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工作经历

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荣誉奖项

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ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes

ISG化作用因在神经发育障碍表型个体中识别出的UBA7基因变异而受到破坏

iScience

IF4.1

2026-03-300

OAAI

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2025-02-010

PRE

Verbinnen, Iris; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J.; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X.; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M.; Foss, Kimberly; Dobyns, William; White, Susan M.; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A.; van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J.; Ruiz, Anna; Quintero, Juan Pablo Trujillo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K.; Weisenberg, Judith L.; Haack, Tobias B.; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Heus, Karen G. C. B. Bindels de; Wit, Marie-Claire Y. de; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca C.; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M.; Houge, Gunnar Douzgos; Janssens, Veerle

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

RYBP基因中的新发变异与严重的神经发育障碍和先天性畸形相关。

GENETICS IN MEDICINE

IF6.2

2025-01-011

PRE

Weisz-Hubshman, Monika; Burrage, Lindsay C.; V. Jangam, Sharayu; Rosenfeld, Jill A.; von Hardenberg, Sandra; Bergmann, Anke; Richter, Manuela Friederike; Rydzanicz, Malgorzata; Ploski, Rafal; Stembalska, Agnieszka; Chung, Wendy K.; Hernan, Rebecca R.; Lim, Foong Y.; Brunet, Theresa; Syrbe, Steffen; Keren, Boris; Heide, Solveig; Murdock, David R.; Dai, Hongzheng; Xia, Fan; Ketkar, Shamika; Dawson, Brian; Narayanan, Vinodh; Graves, Hillary K.; Wangler, Michael F.; Bacino, Carlos; Lee, Brendan

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

CELL DEATH & DISEASE

IF9.6

2024-05-306

OAAI

Werren, Elizabeth A.; Peirent, Emily R.; Jantti, Henna; Guxholli, Alba; Srivastava, Kinshuk Raj; Orenstein, Naama; Narayanan, Vinodh; Wiszniewski, Wojciech; Dawidziuk, Mateusz; Gawlinski, Pawel; Umair, Muhammad; Khan, Amjad; Khan, Shahid Niaz; Genevieve, David; Lehalle, Daphne; van Gassen, K. L. I.; Giltay, Jacques C.; Oegema, Renske; van Jaarsveld, Richard H.; Rafiullah, Rafiullah; Rappold, Gudrun A.; Rabin, Rachel; Pappas, John G.; Wheeler, Marsha M.; Bamshad, Michael J.; Tsan, Yao-Chang; Johnson, Matthew B.; Keegan, Catherine E.; Srivastava, Anshika; Bielas, Stephanie L.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-11-015

OAAI

Mah-Som, Annelise Y.; Daw, Jil; Huynh, Diana; Wu, Mengcheng; Creekmore, Benjamin C.; Burns, William; Skinner, Steven A.; Holla, Oystein L.; Smeland, Marie F.; Planes, Marc; Uguen, Kevin; Redon, Sylvia; Bierhals, Tatjana; Scholz, Tasja; Denecke, Jonas; Mensah, Martin A.; Sczakiel, Henrike L.; Tichy, Heidelis; Verheyen, Sarah; Blatterer, Jasmin; Schreiner, Elisabeth; Thies, Jenny; Lam, Christina; Spaeth, Christine G.; Pena, Loren; Ramsey, Keri; Narayanan, Vinodh; Seaver, Laurie H.; Rodriguez, Diana; Afenjar, Alexandra; Burglen, Lydie; Lee, Edward B.; Chou, Tsui-Fen; Weihl, Conrad C.; Shinawi, Marwan S.

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders

神经发育障碍中Rett综合征样 (rtt-l) 表型趋同的遗传和蛋白质网络基础

CELLS

IF5.2

2023-05-213

OAAI

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-04-014

OAAI

Frost, F. Graeme; Morimoto, Marie; Sharma, Prashant; Ruaud, Lyse; Belnap, Newell; Calame, Daniel G.; Uchiyama, Yuri; Matsumoto, Naomichi; Oud, Machteld M.; Ferreira, Elise A.; Narayanan, Vinodh; Rangasamy, Sampath; Huentelman, Matt; Emrick, Lisa T.; Sato-Shirai, Ikuko; Kumada, Satoko; Wolf, Nicole I.; Steinbach, Peter J.; Huang, Yan; Pusey, Barbara N.; Passemard, Sandrine; Levy, Jonathan; Drunat, Severine; Vincent, Marie; Guet, Agnes; Agolini, Emanuele; Novelli, Antonio; Digilio, Maria Cristina; Rosenfeld, Jill A.; Murphy, Jennifer L.; Lupski, James R.; Vezina, Gilbert; Macnamara, Ellen F.; Adams, David R.; Acosta, Maria T.; Tifft, Cynthia J.; Gahl, William A.; Malicdan, May Christine V.

Lentiviral haematopoietic stem cell gene therapy for metachromatic leukodystrophy: Results in 5 patients treated under nominal compassionate use

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-010

PRE

Gain- of- function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

ELIFE

IF0

2023-01-1716

Burglen, Lydie; Van Hoeymissen, Evelien; Qebibo, Leila; Barth, Magalie; Belnap, Newell; Boschann, Felix; Depienne, Christel; De Clercq, Katrien; Douglas, Andrew G. L.; Fitzgerald, Mark P.; Foulds, Nicola; Garel, Catherine; Helbig, Ingo; Held, Katharina; Horn, Denise; Janssen, Annelies; Kaindl, Angela M.; Narayanan, Vinodh; Prager, Christina; Rupin-Mas, Mailys; Afenjar, Alexandra; Zhao, Siyuan; Ramaekers, Vincent Th; Ruggiero, Sarah M.; Thomas, Simon; Valence, Stephanie; Van Maldergem, Lionel; Rohacs, Tibor; Rodriguez, Diana; Dyment, David; Voets, Thomas; Vriens, Joris

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

HUMAN MOLECULAR GENETICS

IF3.2

2022-05-237

Cordovado, Amelie; Schaettin, Martina; Jeanne, Mederic; Panasenkava, Veranika; Denomme-Pichon, Anne-Sophie; Keren, Boris; Mignot, Cyril; Doco-Fenzy, Martine; Rodan, Lance; Ramsey, Keri; Narayanan, Vinodh; Jones, Julie R.; Prijoles, Eloise J.; Mitchell, Wendy G.; Ozmore, Jillian R.; Juliette, Kali; Torti, Erin; Normand, Elizabeth A.; Granger, Leslie; Petersen, Andrea K.; Au, Margaret G.; Matheny, Juliann P.; Phornphutkul, Chanika; Chambers, Mary-Kathryn; Fernandez-Ramos, Joaquin-Alejandro; Lopez-Laso, Eduardo; Kruer, Michael C.; Bakhtiari, Somayeh; Zollino, Marcella; Morleo, Manuela; Marangi, Giuseppe; Mei, Davide; Pisano, Tiziana; Guerrini, Renzo; Louie, Raymond J.; Childers, Anna; Everman, David B.; Isidor, Betrand; Audebert-Bellanger, Severine; Odent, Sylvie; Bonneau, Dominique; Gilbert-Dussardier, Brigitte; Redon, Richard; Bezieau, Stephane; Laumonnier, Frederic; Stoeckli, Esther T.; Toutain, Annick; Vuillaume, Marie-Laure

An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain

ANNALS OF NEUROLOGY

IF7.7

2022-04-168

PRE

Genome sequencing uncovers molecular cause in a case with epileptic encephalopathy

GENETICS IN MEDICINE

IF6.2

2022-03-010

A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2022-01-015

OAAI

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

CSNK2B: 广泛的神经发育障碍和癫痫严重程度

EPILEPSIA

IF6.6

2021-05-2620

OAAI

Ernst, Michelle E.; Baugh, Evan H.; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S.; Kushary, Sulagna; Akman, Cigdem I.; Heinzen, Erin L.; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A.; Burrage, Lindsay C.; Leduc, Magalie S.; Chong, Josephine S. C.; Bend, Renee; Lyons, Michael J.; Lee, Jennifer A.; Suwannarat, Pim; Brilstra, Eva; Simon, Marleen; Koopmans, Marije; van Binsbergen, Ellen; Groepper, Daniel; Fleischer, Julie; Nava, Caroline; Keren, Boris; Mignot, Cyril; Mathieu, Sophie; Mancini, Grazia M. S.; Madan-Khetarpal, Suneeta; Infante, Elena M.; Bluvstein, Judith; Seeley, Andrea; Bachman, Kristine; Klee, Eric W.; Schultz-Rogers, Laura E.; Hasadsri, Linda; Barnett, Sarah; Ellingson, Marissa S.; Ferber, Matthew J.; Narayanan, Vinodh; Ramsey, Keri; Rauch, Anita; Joset, Pascal; Steindl, Katharina; Sheehan, Theodore; Poduri, Annapurna; Vasquez, Alejandra; Ruivenkamp, Claudia; White, Susan M.; Pais, Lynn; Monaghan, Kristin G.; Goldstein, David B.; Sands, Tristan T.; Aggarwal, Vimla

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

NEUROLOGY-GENETICS

IF3.7

2020-08-017

OAAI

Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex

NATURE COMMUNICATIONS

IF15.7

2020-07-0321

OAAI

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

HUMAN MUTATION

IF3.7

2020-04-0626

OAAI

Carvill, Gemma L.; Helbig, Katherine L.; Myers, Candace T.; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N.; Guida, Brandon S.; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A.; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timothy; Rohena, Luis O.; Accogli, Andrea; Severino, Mariasavina; Hollingsworth, Georgina; Gill, Deepak; Depienne, Christel; Nava, Caroline; Sadleir, Lynette G.; Caruso, Paul A.; Lin, Angela E.; Jansen, Floor E.; Koeleman, Bobby; Brilstra, Eva; Willemsen, Marjolein H.; Kleefstra, Tjitske; Sa, Joaquim; Mathieu, Marie-Laure; Perrin, Laurine; Lesca, Gaetan; Striano, Pasquale; Casari, Giorgio; Scheffer, Ingrid E.; Raible, David; Sattlegger, Evelyn; Capra, Valeria; Padilla-Lopez, Sergio; Mefford, Heather C.; Kruer, Michael C.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

USP9X功能的部分丧失导致男性神经发育和行为障碍收敛于转化生长因子 β 信号传导

BIOLOGICAL PSYCHIATRY

IF9

2020-01-0149

OAAI

Johnson, Brett, V; Kumar, Raman; Oishi, Sabrina; Alexander, Suzy; Kasherman, Maria; Vega, Michelle Sanchez; Ivancevic, Atma; Gardner, Alison; Domingo, Deepti; Corbett, Mark; Parnell, Euan; Yoon, Sehyoun; Oh, Tracey; Lines, Matthew; Lefroy, Henrietta; Kini, Usha; Van Allen, Margot; Gronborg, Sabine; Mercier, Sandra; Kury, Sebastien; Bezieau, Stephane; Pasquier, Laurent; Raynaud, Martine; Afenjar, Alexandra; de Villemeur, Thierry Billette; Keren, Boris; Desir, Julie; Van Maldergem, Lionel; Marangoni, Martina; Dikow, Nicola; Koolen, David A.; VanHasselt, Peter M.; Weiss, Marjan; Zwijnenburg, Petra; Sa, Joaquim; Reis, Claudia Falcao; Lopez-Otin, Carlos; Santiago-Fernandez, Olaya; Fernandez-Jaen, Alberto; Rauch, Anita; Steindl, Katharina; Joset, Pascal; Goldstein, Amy; Madan-Khetarpal, Suneeta; Infante, Elena; Zackai, Elaine; Mcdougall, Carey; Narayanan, Vinodh; Ramsey, Keri; Mercimek-Andrews, Saadet; Pena, Loren; Shashi, Vandana; Schoch, Kelly; Sullivan, Jennifer A.; E Vairo, Filippo Pinto; Pichurin, Pavel N.; Ewing, Sarah A.; Barnett, Sarah S.; Klee, Eric W.; Perry, M. Scott; Koenig, Mary Kay; Keegan, Catherine E.; Schuette, Jane L.; Asher, Stephanie; Perilla-Young, Yezmin; Smith, Laurie D.; Rosenfeld, Jill A.; Bhoj, Elizabeth; Kaplan, Paige; Li, Dong; Oegema, Renske; van Binsbergen, Ellen; van der Zwaag, Bert; Smeland, Marie Falkenberg; Cutcutache, Ioana; Page, Matthew; Armstrong, Martin; Lin, Angela E.; Steeves, Marcie A.; den Hollander, Nicolette; Hoffer, Mariette J., V; Reijnders, Margot R. F.; Demirdas, Serwet; Koboldt, Daniel C.; Bartholomew, Dennis; Mosher, Theresa Mihalic; Hickey, Scott E.; Shieh, Christine; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Tezcan, Kamer; Schaefer, G. B.; Danylchuk, Noelle R.; Asamoah, Alexander; Jackson, Kelly E.; Yachelevich, Naomi; Au, Margaret; Perez-Jurado, Luis A.; Kleefstra, Tjitske; Penzes, Peter; Wood, Stephen A.; Burne, Thomas; Pierson, Tyler Mark; Piper, Michael; Gecz, Jozef; Jolly, Lachlan A.; Acosta, Maria T.; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F.; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bivona, Stephanie; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Dasari, Surendra; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Friedman, Noah D.; Gahl, William A.; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gourdine, Jean-Philippe F.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Frances; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Kelley, Emily G.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lam, Byron; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine, V; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Morava-Kozicz, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nath, Avi; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Renteri, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rowley, Robb K.; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shields, Kathleen; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sweetser, David A.; Tamburro, Cecelia P.; Tan, Queenie K-G; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Bobbie-Jo, M.; Webb-Robertson; Wegner, Daniel; Field, Monte Wester; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Woods, Jeremy D.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, John; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)

HUMAN GENETICS

IF3.6

2019-11-2015

PREAI

Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia

HUMAN MUTATION

IF3.7

2019-11-145

OAAI

Vinodh Narayanan

个人简介

教育背景

工作经历

荣誉奖项

研究方向