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Maura Ruzhnikov
Maura Ruzhnikov
Verified email at stanford.edu
Title
Cited by
Cited by
Year
De novo mutations in epileptic encephalopathies
Nature 501 (7466), 217-221, 2013
15082013
Ultrarapid nanopore genome sequencing in a critical care setting
JE Gorzynski, SD Goenka, K Shafin, TD Jensen, DG Fisk, ME Grove, ...
New England Journal of Medicine 386 (7), 700-702, 2022
1632022
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
S Esmaeeli Nieh, MRZ Madou, M Sirajuddin, B Fregeau, D McKnight, ...
Annals of clinical and translational neurology 2 (6), 623-635, 2015
1192015
Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification
ER Nicoli, MR Weston, M Hackbarth, A Becerril, A Larson, WM Zein, ...
The American Journal of Human Genetics 104 (6), 1127-1138, 2019
722019
Infantile spasms of unknown cause: predictors of outcome and genotype-phenotype correlation
CJ Yuskaitis, MRZ Ruzhnikov, KB Howell, IE Allen, K Kapur, DJ Dlugos, ...
Pediatric neurology 87, 48-56, 2018
602018
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing
SD Goenka, JE Gorzynski, K Shafin, DG Fisk, T Pesout, TD Jensen, ...
Nature Biotechnology 40 (7), 1035-1041, 2022
592022
MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: meta‐analysis and consensus guidelines
EJ Mallack, BR Turk, H Yan, C Price, M Demetres, AB Moser, C Becker, ...
Journal of inherited metabolic disease 44 (3), 728-739, 2021
592021
De novo missense substitutions in the gene encoding CDK8, a regulator of the mediator complex, cause a syndromic developmental disorder
E Calpena, A Hervieu, T Kaserer, SMA Swagemakers, JAC Goos, ...
The American Journal of Human Genetics 104 (4), 709-720, 2019
592019
De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia
O Kanca, JC Andrews, PT Lee, C Patel, SR Braddock, AM Slavotinek, ...
The American Journal of Human Genetics 105 (2), 413-424, 2019
532019
De novo mutations affecting the catalytic Cα subunit of PP2A, PPP2CA, cause syndromic intellectual disability resembling other PP2A-related neurodevelopmental disorders
S Reynhout, S Jansen, D Haesen, S van Belle, SA de Munnik, ...
The American Journal of Human Genetics 104 (1), 139-156, 2019
512019
De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation
D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ...
The American Journal of Human Genetics 106 (4), 570-583, 2020
492020
De novo pathogenic variants in N-cadherin cause a syndromic neurodevelopmental disorder with corpus callosum, axon, cardiac, ocular, and genital defects
A Accogli, S Calabretta, J St-Onge, N Boudrahem-Addour, ...
The American Journal of Human Genetics 105 (4), 854-868, 2019
392019
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: case series and literature review
A Kumar, DB Zastrow, EJ Kravets, D Beleford, MRZ Ruzhnikov, ME Grove, ...
American Journal of Medical Genetics Part A 179 (6), 966-977, 2019
342019
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
K Schoch, C Esteves, A Bican, R Spillmann, H Cope, A McConkie-Rosell, ...
Genetics in medicine 23 (2), 259-271, 2021
332021
Expanding the molecular and clinical phenotypes of FUT8‐CDG
BG Ng, H Dastsooz, M Silawi, P Habibzadeh, SB Jahan, MAF Fard, ...
Journal of inherited metabolic disease 43 (4), 871-879, 2020
312020
Hallucinogens causing seizures? A case report of the synthetic amphetamine 2, 5-dimethoxy-4-chloroamphetamine
MJ Burish, KL Thoren, M Madou, S Toossi, M Shah
The neurohospitalist 5 (1), 32-34, 2015
312015
Variable clinical severity in TANGO2 deficiency: case series and literature review
J Schymick, P Leahy, T Cowan, MRZ Ruzhnikov, R Gates, L Fernandez, ...
American Journal of Medical Genetics Part A 188 (2), 473-487, 2022
302022
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
MJA Weerts, K Lanko, FJ Guzmán-Vega, A Jackson, R Ramakrishnan, ...
Genetics in Medicine 23 (11), 2122-2137, 2021
262021
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy
S Dahimene, L von Elsner, T Holling, LS Mattas, J Pickard, D Lessel, ...
Brain 145 (8), 2721-2729, 2022
252022
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
DL Johnstone, TTM Nguyen, J Zambonin, KD Kernohan, A St‐Denis, ...
Journal of inherited metabolic disease 43 (6), 1321-1332, 2020
182020
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