Maura Ruzhnikov

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 10 papers. Top paper: “MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines”.

MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12356

N/A

0.659DataRank · unranked

80 citations

Bela R. Turk, Helena Yan, Carrie Price, Michelle Demetres, Ann B. Moser +18 more

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.016

N/A

0.639DataRank · unranked

70 citations

Chloe Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick +91 more

Expanding the molecular and clinical phenotypes of FUT8‐CDG

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12221

N/A

0.529DataRank · unranked

33 citations

Hassan Dastsooz, Mohammad Silawi, Parham Habibzadeh, Shima B. Jahan, Mohammad Ali Farazi Fard +10 more

Recurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B

JCI Insight(2024)10.1172/jci.insight.185874

N/A

0.269DataRank · unranked

5 citations

Suzanne M. Jan de Beur, Cuiping Hou, Maura Ruzhnikov, Hilary Seeley, Garry R. Cutting +3 more

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

Brain(2022)10.1093/brain/awac081

N/A

0DataRank · unranked

41 citations

Leonie von Elsner, Tess Holling, Lauren Mattas, Jess Pickard, Davor Lessel +10 more

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108521

N/A

0DataRank · unranked

8 citations

Samuel Groeschel, Chloe Grzyb, Russell D’Aiello, Francesco Gavazzi, Omar Sherbini +43 more

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63956

N/A

0DataRank · unranked

0 citations

Allyn McConkie‐Rosell, Rachel Mahoney, Rebecca C. Spillmann, Kelly Schoch, Sirisak Chanprasert +21 more

Variable clinical severity in TANGO2 deficiency: Case series and literature review

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62543

N/A

0DataRank · unranked

33 citations

Peter Leahy, Tina M. Cowan, Maura Ruzhnikov, Ryan Gates, Liliana Fernández +8 more

Identification of protein quality control regulators using a Drosophila model of TPI deficiency

Neurobiology of Disease(2021)10.1016/j.nbd.2021.105299

N/A

0DataRank · unranked

9 citations

Samantha L. Eicher, Tracey D. Myers, Ian McGrath, Andrew P. K. Wodrich, Hemanth Venkatesh +13 more

Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing

Nature Biotechnology(2022)10.1038/s41587-022-01221-5

N/A

0DataRank · unranked

121 citations

John E. Gorzynski, Kishwar Shafin, Dianna G. Fisk, Trevor Pesout, Tanner Jensen +24 more