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Chaya N. Murali

baylor college of medicine

14H-index
71Paper Count
534Citation Count
Published Papers 21
Publication Date
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Further characterization of the BRSK2-associated neurodevelopmental disorder
errEuropean Journal of Human Genetics
IF4.6
err2026-07-27
err0
errOAAI
errPalak Singhal; Tzung-Chien Hsieh; Nadja Ehmke; Elena Bacchelli; Marta Viggiano; Elena Maestrini; Paola Visconti; Annio Posar; Maria Cristina Scaduto; Alessandro Vaisfeld; Carey Ronspies; Sarah Burke; Joana Rosmaninho Salgado; Joaquim Sá; Sara Ribeiro; Amelle Shillington; Anjali Aggarwal; Christina Dailey; Carol Saunders; Florencia Del Viso; Chaya N. Murali; Melissa MacPherson; Oana Caluseriu; Alain Verloes; Jonathan Levy; Yline Capri; Hannah S. Kemmer; Manuel Holtgrewe; Philip M. Boone; Lance Rodan; Georgia Vasileiou; Melissa Pauly; André Reis; Isabella Herman; Ivy Johnson; Himanshu Goel; Ana Maria Rodriguez Barreto; Flavio Faletra; Catia Mio; Mona L. Essawi; Heba A. Hassan; Wessam E. Sharaf-Eldin; Nirmeen Kishk; Giuseppe Donato Mangano; Renata Mangano; Andrea K. Shields; Judith D. Ranells; Trine Bjørg Hammer; Clara Velmans; Christian Netzer; Nora Winnerling; Konstantinos Kolokotronis; Benjamin Seidl; Anita Rauch; Alberto Fernandez-Jaen; Aboulfazl Rad; Gabriela Oprea; Paskal Cullufi; Sonila Tomori; Claire Beneteau; Marine Legendre; Caroline Rooryck; Hannah Klinkhammer; Tobias B. Haack; Amjad Khan; Johanna Kick; Deborah Bartholdi; Dominique Braun; Erin E. Baldwin; David H. Viskochil; Lorenzo D. Botto; Anna LaGroon; Emily Black; Kameryn M. Butler; Emmanuelle Ranza; Manon Macherel; Vincent Desportes; Mathilde Pujalte; Louis Januel; Boris Keren; Cyril Mignot; Madeleine Harion; Maartje L. E. Voors; Charlotte W. Ockeloen; Javier Porta-Pelayo; Bernt Popp; Peter Krawitz; Heinrich Sticht; Anne Gregor; Christiane Zweier
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Self-perceived burden and mental health outcomes in adults with osteogenesis imperfecta
errJournal of Health Psychology
IF2.2
err2026-06-23
err0
PREAI
errEmily R. Strouphauer; Camille Villar; Ryan J. McCarty; Danqi Li; Gianna M. Colombo; Brendan Lee; ; Chaya N. Murali; Dianne Nguyen; Sarah Sadek; Marie-Eve Robinson; Jocelyn Gomez; Michelle Fynan; V. Reid Sutton; Andrew D. Wiese; Eric A. Storch
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Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders
errJournal of Inherited Metabolic Disease
IF3.8
err2026-04-09
err0
errOAAI
errCurtis R. Coughlin II; John Barber; Chaya N. Murali; Members of the Urea Cycle Disorders Consortium (UCDC); Greta Wilkening
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Loss-of-function variants in MARK2 cause neurodevelopmental disorder
errHuman Genetics and Genomics Advances
IF3.6
err2026-04-01
err0
errOAAI
errYang, Yunseon; Shim, Yoon-Kyung; Miyake, Noriko; Takada, Sanami; Silva, Sebastian; Peters-Foitzick, Alexander; Gupta, Abha R.; Neuhaus, Emily; Bradley, Catherine; Taylor, Cora; Russell, Bianca; Shrewsbury, Amanda; Michaelson, Jacob J.; Murali, Chaya N.; Gerard, Amanda; Geltzeiler, Alexa; Chung, Wendy K.; Chung, Hyung-lok
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Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-12-01
err0
errOAAI
errMorales, Julia M.; Villar, Camille F.; Varman, Beatriz; Colombo, Gianna M.; Li, Danqi; Sadek, Sarah J.; Robinson, Marie-eve; Murali, Chaya N.; Ayers, Kara; Gomez, Jocelyn; Lee, Brendan; Sutton, V. Reid; Storch, Eric A.; Wiese, Andrew D.
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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-01-01
err0
errOAAI
errZerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D.; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D.; Ruiz, Anna; Manso-Basuz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L.; Vilain, Eric; Arnadottir, Gudny A.; Sulem, Patrick; Sulem, Telma S.; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M.; Valentine, Rozalia; Trowbridge, Sara K.; Murali, Chaya N.; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D.; Keppler-Noreuil, Kim M.; Hall, April L.; Mcgivern, Bobbi; Monaghan, Kristin G.; Sacoto, Maria J. Guillen; Baldridge, Dustin; Silverman, Gary A.; Dahiya, Sonika; Turner, Tychele N.; Schedl, Tim; Corbin, Joshua G.; Pak, Stephen C.; Zohn, Irene E.; Gurnett, Christina A.
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Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-07-04
err1
errOAAI
errSmal, Noor; Majdoub, Fatma; Janssens, Katrien; Reyniers, Edwin; Meuwissen, Marije E. C.; Ceulemans, Berten; Northrup, Hope; Hill, Jeremy B.; Liu, Lingying; Errichiello, Edoardo; Gana, Simone; Strong, Alanna; Rohena, Luis; Franciskovich, Rachel; Murali, Chaya N.; Huybrechs, An; Sulem, Telma; Fridriksdottir, Run; Sulem, Patrick; Stefansson, Kari; Bai, Yan; Rosenfeld, Jill A.; Lalani, Seema R.; Streff, Haley; Kooy, R. Frank; Weckhuysen, Sarah
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Improving access to exome sequencing in a medically underserved population through the Texome Project
errGENETICS IN MEDICINE
IF6.2
err2024-06-01
err0
errOAAI
errVuocolo, Blake; German, Ryan J.; Lalani, Seema R.; Murali, Chaya N.; Bacino, Carlos A.; Baskin, Stephanie; Littlejohn, Rebecca; Odom, John D.; Mclean, Scott; Schmid, Carrie; Nutter, Morgan; Stuebben, Melissa; Magness, Emily; Juarez, Olivia; El Achi, Dina; Mitchell, Bailey; Glinton, Kevin E.; Robak, Laurie; Nagamani, Sandesh C. S.; Saba, Lisa; Ritenour, Adasia; Zhang, Lilei; Streff, Haley; Chan, Katie; Kemere, K. Jordan; Carter, Kent; Vossaert, Liesbeth; Liu, Pengfei; Bellen, Hugo; Wangler, Michael F.
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The Impact of Cognitive Behavioral Therapy on Sleep Problems in Autistic Children with Co-occurring Anxiety
errJOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
IF2.8
err2024-04-01
err1
PREAI
errHarris, Holly K.; Kook, Minjee; Boedeker, Peter; Gusick, Andrew G.; Lyons-Warren, Ariel M.; Goin-Kochel, Robin P.; Murali, Chaya; Berry, Leandra N.; Storch, Eric A.
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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
errBRAIN
IF11.7
err2023-12-01
err2
errOAAI
errRinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G.; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H.; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M.; Pedersen, Miriam G.; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andree; Emrick, Lisa T.; Sully, Krystal; Murali, Chaya N.; Burrage, Lindsay C.; Gonzalez, Julie Ana Plaud; Parnes, Mered; Friedman, Jennifer; Isidor, Bertrand; Lefranc, Jeremie; Redon, Sylvia; Heron, Delphine; Mignot, Cyril; Keren, Boris; Fradin, Melanie; Dubourg, Christele; Mercier, Sandra; Besnard, Thomas; Cogne, Benjamin; Deb, Wallid; Rivier, Clotilde; Milani, Donatella; Bedeschi, Maria Francesca; Di Napoli, Claudia; Grilli, Federico; Marchisio, Paola; Koudijs, Suzanna; Veenma, Danielle; Argilli, Emanuela; Lynch, Sally Ann; Au, Ping Yee Billie; Valenzuela, Fernando Eduardo Ayala; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Romero, Leslie Patron; Li, Wenhui Laura; Thorpe, Erin; Hecher, Laura; Johannsen, Jessika; Denecke, Jonas; McNiven, Vanda; Szuto, Anna; Wakeling, Emma; Cruz, Vincent; Sency, Valerie; Wang, Heng; Piard, Juliette; Kortuem, Fanny; Herget, Theresia; Bierhals, Tatjana; Condell, Angelo; Ben-Zeev, Bruria; Kaur, Simranpreet; Christodoulou, John; Piton, Amelie; Zweier, Christiane; Kraus, Cornelia; Micalizzi, Alessia; Trivisano, Marina; Specchio, Nicola; Lesca, Gaetan; Moller, Rikke S.; Tumer, Zeynep; Musgaard, Maria; Gerard, Benedicte; Lemke, Johannes R.; Shi, Yun Stone; Kristensen, Anders S.
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Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-11-01
err3
errOAAI
errMurali, Chaya N.; Barber, John R.; McCarter, Robert; Zhang, Anqing; Gallant, Natalie; Simpson, Kara; Dorrani, Naghmeh; Wilkening, Greta N.; Hays, Ron D.; Urea Cycle Disorders Consortium, Lindsay C.; Burragea, Lindsay C.; Nagamani, Sandesh C. S.
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Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2023-10-01
err2
errOAAI
errShieh, Joseph T.; Tintos-Hernandez, Jesus A.; Murali, Chaya N.; Penon-Portmann, Monica; Flores-Mendez, Marco; Santana, Adrian; Bulos, Joshua A.; Du, Kang; Dupuis, Lucie; Damseh, Nadirah; Mendoza-Londono, Roberto; Berera, Camilla; Lee, Julieann C.; Phillips, Joanna J.; Alves, Cesar A. P. F.; Dmochowski, Ivan J.; Ortiz-Gonzalez, Xilma R.
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A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease
errJOURNAL OF THE AMERICAN HEART ASSOCIATION
IF5.3
err2023-09-19
err8
errOAAI
errLandis, Benjamin J.; Helvaty, Lindsey R.; Geddes, Gabrielle C.; Lin, Jiuann-Huey Ivy; Yatsenko, Svetlana A.; Lo, Cecilia W.; Border, William L.; Wechsler, Stephanie Burns; Murali, Chaya N.; Azamian, Mahshid S.; Lalani, Seema R.; Hinton, Robert B.; Garg, Vidu; McBride, Kim L.; Hodge, Jennelle C.; Ware, Stephanie M.
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Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients
errGENETICS IN MEDICINE
IF6.2
err2023-04-01
err14
errOAAI
errMiyake, Christina Y.; Lay, Erica J.; Soler-Alfonso, Claudia; Glinton, Kevin E.; Houck, Kimberly M.; Tosur, Mustafa; Moran, Nancy E.; Stephens, Sara B.; Scaglia, Fernando; Howard, Taylor S.; Kim, Jeffrey J.; Pham, Tam Dam; Valdes, Santiago O.; Li, Na; Murali, Chaya N.; Zhang, Lilei; Kava, Maina; Yim, Deane; Beach, Cheyenne; Webster, Gregory; Liberman, Leonardo; Janson, Christopher M.; Kannankeril, Prince J.; Baxter, Samantha; Singer-Berk, Moriel; Wood, Jordan; Mackenzie, Samuel J.; Sacher, Michael; Ghaloul-Gonzalez, Lina; Pedroza, Claudia; Morris, Shaine A.; Ehsan, Saad A.; Azamian, Mahshid S.; Lalani, Seema R.
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Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2022-06-13
err2
PREAI
errMurali, Chaya N.; Lalani, Seema R.; Azamian, Mahshid S.; Miyake, Christina Y.; Smith, Hadley Stevens
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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
errCELL REPORTS
IF6.9
err2022-03-01
err24
errOAAI
errMarcogliese, Paul C.; Deal, Samantha L.; Andrews, Jonathan; Harnish, J. Michael; Bhavana, V. Hemanjani; Graves, Hillary K.; Jangam, Sharayu; Luo, Xi; Liu, Ning; Bei, Danqing; Yu-Hsin Chao; Hull, Brooke; Pei-Tseng Lee; Pan, Hongling; Bhadane, Pradnya; Mei-Chu Huang; Longley, Colleen M.; Hsiao-Tuan Chao; Hyung-lok Chung; Haelterman, Nele A.; Kanca, Oguz; Manivannan, Sathiya N.; Rossetti, Linda Z.; German, Ryan J.; Gerard, Amanda; Schwaibold, Eva Maria Christina; Fehr, Sarah; Guerrini, Renzo; Vetro, Annalisa; England, Eleina; Murali, Chaya N.; Barakat, Tahsin Stefan; van Dooren, Marieke F.; Wilke, Martina; van Slegtenhorst, Marjon; Lesca, Gaetan; Sabatier, Isabelle; Chatron, Nicolas; Brownstein, Catherine A.; Madden, Jill A.; Agrawal, Pankaj B.; Keren, Boris; Courtin, Thomas; Perrin, Laurence; Brugger, Melanie; Roser, Timo; Leiz, Steffen; Mau-Them, Frederic Tran; Delanne, Julian; Sukarova-Angelovska, Elena; Trajkova, Slavica; Rosenhahn, Erik; Strehlow, Vincent; Platzer, Konrad; Keller, Roberto; Pavinato, Lisa; Brusco, Alfredo; Rosenfeld, Jill A.; Marom, Ronit; Wangler, Michael F.; Yamamoto, Shinya
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TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2021-02-01
err17
errOAAI
errMurali, Chaya N.; Soler-Alfonso, Claudia; Loomes, Kathleen M.; Shah, Amit A.; Monteil, Danielle; Padilla, Carmencita D.; Scaglia, Fernando; Ganetzky, Rebecca
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Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta
errGENETICS IN MEDICINE
IF6.2
err2020-03-01
err17
errOAAI
errMurali, Chaya N.; Cuthbertson, David; Slater, Brady; Nguyen, Dianne; Turner, Alicia; Harris, Gerald; Sutton, V. Reid; Lee, Brendan; Nagamani, Sandesh C. S.
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Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy
errSCIENCE ADVANCES
IF12.5
err2019-09-06
err35
errOAAI
errAhrens-Nicklas, Rebecca C.; Pappas, Christopher T.; Farman, Gerrie P.; Mayfield, Rachel M.; Larrinaga, Tania M.; Medne, Livija; Ritter, Alyssa; Krantz, Ian D.; Murali, Chaya; Lin, Kimberly Y.; Berger, Justin H.; Yum, Sabrina W.; Carreon, Chrystalle Katte; Gregorio, Carol C.
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Histopathologic and Genetic Features of Alveolar Capillary Dysplasia with Atypical Late Presentation and Prolonged Survival
errJOURNAL OF PEDIATRICS
IF3.5
err2019-07-01
err30
errOAAI
errEdwards, Jonathan J.; Murali, Chaya; Pogoriler, Jennifer; Frank, David B.; Handler, Stephanie S.; Deardorff, Mathew A.; Hopper, Rachel K.
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Research Directions

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Co-authors
Cooperation Journals
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