Maura R.Z. Ruzhnikov

ScholarGPS® ID: 54000649028457

Affiliation

Stanford University, Stanford, United States

Affiliation History

Field

Medicine

Discipline

Neurology

Top Specialties

Medical Genetics | Metabolic Disorder

Metrics Summary

Publication Count

Predicted Citations

258

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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De novo FRMD5 Missense Variants in Patients with Childhood‐Onset Ataxia, Prominent Nystagmus, and Seizures (journal article) Keller Sarmiento, Ignacio J. \| Bustos, Bernabe I. \| Blackburn, Joanna \| Hac, Nicholas E.F. \| Ruzhnikov, Maura \| Monroe, Matthea \| Levy, Rebecca J. \| Kinsley, Lisa \| Li, Megan \| Silani, Vincenzo \| ... \| Mencacci, Niccolò E. Movement Disorders (2024). 10.1002/mds.29791 Cite \| Source
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome (journal article) Gates, Ryan W. \| Webb, Bryn D. \| Stevenson, David A. \| Jabs, Ethylin Wang \| DeFilippo, Colette \| Ruzhnikov, Maura R. Z. \| Tise, Christina G. American Journal of Medical Genetics Part A, volume 191, issue 11, pages 2743-2748 (2023). 10.1002/ajmg.a.63389 Cited by (1) \| Cite \| Source
Safe use of the ketogenic diet in an infant with microcephaly, epilepsy, and diabetes syndrome: a case report (journal article) Zegarra, Walter A. \| Gallentine, William B. \| Ruzhnikov, Maura R. \| McAndrews, Catherine A. \| Gloyn, Anna L. \| Addala, Ananta BMC Pediatrics, volume 23, issue 1 (2023). 10.1186/s12887-023-04272-y Cited by (1) \| Cite \| Source
Delineating the epilepsy phenotype of NGLY1 deficiency (journal article) Levy, Rebecca J. \| Frater, Christina H. \| Gallentine, William B. \| Phillips, Jennifer M. \| Ruzhnikov, Maura R. Journal of Inherited Metabolic Disease, volume 45, issue 3, pages 571-583 (2022). 10.1002/jimd.12494 Cited by (8) \| Cite \| Source
SUCCESSFUL CARDIAC TRANSPLANTATION AND LONG-TERM FOLLOW-UP IN -ASSOCIATED DILATED CARDIOMYOPATHY WITH ATAXIA (journal article) Tahata, Shawn \| Tise, Christina \| Floyd, Brendan \| Cusmano-Ozog, Kristina \| Ruzhnikov, Maura \| Enns, Gregory Molecular Genetics and Metabolism, volume 135, issue 4, pages 302- (2022). 10.1016/j.ymgme.2022.01.091 Cite \| Source
Variable clinical severity in TANGO2 deficiency: Case series and literature review (journal article) Schymick, Jennifer \| Leahy, Peter \| Cowan, Tina \| Ruzhnikov, Maura R. Z. \| Gates, Ryan \| Fernandez, Liliana \| Pramanik, Gopal \| Yarlagadda, Vamsi \| Wheeler, Matthew \| Bernstein, Jonathan A. \| ... \| Lee, Chung American Journal of Medical Genetics Part A, volume 188, issue 2, pages 473-487 (2022). 10.1002/ajmg.a.62543 Cited by (18) \| Cite \| Source
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene (journal article) van de Stadt, Stephanie I. W. \| Mooyer, Petra A. W. \| Dijkstra, Inge M. E. \| Dekker, Conny J. M. \| Vats, Divya \| Vera, Moin \| Ruzhnikov, Maura R. Z. \| van Haren, Keith \| Tang, Nelson \| Koop, Klaas \| ... \| Ferdinandusse, Sacha Genes, volume 12, issue 12, pages 1930- (2021). 10.3390/genes12121930 Cited by (7) \| Cite \| Source
Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy (journal article) Tise, Christina G. \| Morales, Jose Andres \| Lee, Ariel S. \| Velez‐Bartolomei, Frances \| Floyd, Brendan J. \| Levy, Rebecca J. \| Cusmano‐Ozog, Kristina P. \| Feigenbaum, Annette S. \| Ruzhnikov, Maura R. Z. \| Lee, Chung U. \| Enns, Gregory M. American Journal of Medical Genetics Part A, volume 185, issue 6, pages 1848-1853 (2021). 10.1002/ajmg.a.62160 Cited by (9) \| Cite \| Source
Identification of protein quality control regulators using a Drosophila model of TPI deficiency (journal article) Hrizo, Stacy L. \| Eicher, Samantha L. \| Myers, Tracey D. \| McGrath, Ian \| Wodrich, Andrew P.K. \| Venkatesh, Hemanth \| Manjooran, Daniel \| Swoger, Sabrina \| Gagnon, Kim \| Bruskin, Matthew \| ... \| Palladino, Michael J. Neurobiology of Disease, volume 152 (2021). 10.1016/j.nbd.2021.105299 Cited by (5) \| Cite \| Source
MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines (journal article) Mallack, Eric J. \| Turk, Bela R. \| Yan, Helena \| Price, Carrie \| Demetres, Michelle \| Moser, Ann B. \| Becker, Catherine \| Hollandsworth, Kim \| Adang, Laura \| Vanderver, Adeline \| ... \| Fatemi, Ali Journal of Inherited Metabolic Disease, volume 44, issue 3, pages 728-739 (2021). 10.1002/jimd.12356 Cited by (43) \| Cite \| Source
The yield of thorough record review in the Undiagnosed Diseases Network (journal article) Findley, Laurie \| Rosenfeld, Jill \| Spillman, Rebecca \| Cope, Heidi \| Schoch, Kelly \| Briere, Lauren \| Bernstein, Jonathan \| Hom, Jason \| Ruzhnikov, Maura \| Kravets, Elijah \| ... \| Butte, Manish Molecular Genetics and Metabolism, volume 132 (2021). 10.1016/S1096-7192(21)00378-4 Cite \| Source
Early Signs and Symptoms of Leukodystrophies: A Case-Based Guide (journal article) Ruzhnikov, Maura R.Z. \| Brimble, Elise \| Hickey, Rachel E. Pediatrics In Review, volume 42, issue 3, pages 133-146 (2021). 10.1542/pir.2019-0184 Cited by (2) \| Cite \| Source
Use of electronic medical record templates improves quality of care for patients with infantile spasms (journal article) Santoro, Jonathan D \| Sandoval Karamian, Amanda G \| Ruzhnikov, Maura \| Brimble, Elise \| Chadwick, Whitney \| Wusthoff, Courtney J Health Information Management Journal, volume 50, issue 1-2, pages 47-54 (2021). 10.1177/1833358318794501 Cited by (7) \| Cite \| Source
Expanding the molecular and clinical phenotypes of FUT8‐CDG (journal article) Ng, Bobby G. \| Dastsooz, Hassan \| Silawi, Mohammad \| Habibzadeh, Parham \| Jahan, Shima B. \| Fard, Mohammad A. F. \| Halliday, Benjamin J. \| Raymond, Kimiyo \| Ruzhnikov, Maura R. Z. \| Tabatabaei, Zahra \| ... \| Freeze, Hudson H. Journal of Inherited Metabolic Disease, volume 43, issue 4, pages 871-879 (2020). 10.1002/jimd.12221 Cited by (26) \| Cite \| Source
Metabolic Disorders Presenting with Seizures in the Neonatal Period (journal article) Brimble, Elise \| Ruzhnikov, Maura R.Z. Seminars in Neurology, volume 40, issue 02, pages 219-235 (2020). 10.1055/s-0040-1705119 Cited by (6) \| Cite \| Source
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy (journal article) Carter, Lauren B. \| Battaglia, Agatino \| Cherry, Athena \| Manning, Melanie A. \| Ruzhnikov, Maura RZ \| Bird, Lynne M. \| Dowsett, Leah \| Graham, John M. \| Alkuraya, Fowzan S. \| Hashem, Mais \| ... \| Hudgins, Louanne American Journal of Medical Genetics Part A, volume 179, issue 8, pages 1543-1546 (2019). 10.1002/ajmg.a.61266 Cited by (5) \| Cite \| Source
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review (journal article) Kumar, Akash \| Zastrow, Diane B. \| Kravets, Elijah J. \| Beleford, Daniah \| Ruzhnikov, Maura R. Z. \| Grove, Megan E. \| Dries, Annika M. \| Kohler, Jennefer N. \| Waggott, Daryl M. \| Yang, Yaping \| ... \| Bernstein, Jonathan A. American Journal of Medical Genetics Part A, volume 179, issue 6, pages 966-977 (2019). 10.1002/ajmg.a.61134 Cited by (20) \| Cite \| Source
Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation (journal article) Yuskaitis, Christopher J. \| Ruzhnikov, Maura R.Z. \| Howell, Katherine B. \| Allen, I. Elaine \| Kapur, Kush \| Dlugos, Dennis J. \| Scheffer, Ingrid E. \| Poduri, Annapurna \| Sherr, Elliott H. Pediatric Neurology, volume 87 (2018). 10.1016/j.pediatrneurol.2018.04.012 Cited by (43) \| Cite \| Source
A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata (journal article) Brimble, Elise \| Pacione, Michelle \| Farrelly, Ellyn \| Stevenson, David A. \| Ruzhnikov, Maura R.Z. Clinical Dysmorphology, volume 27, issue 4, pages 151-153 (2018). 10.1097/MCD.0000000000000231 Cited by (1) \| Cite \| Source
Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder (journal article) Brimble, Elise \| Lee-Messer, Christopher \| Nagy, Peter L. \| Propst, Jennifer \| Ruzhnikov, Maura R.Z. Molecular Syndromology, volume 9, issue 6, pages 295-299 (2018). 10.1159/000492706 Cited by (4) \| Cite \| Source