Simona Bianconi

Also affiliated with Kaiser Foundation Hospital, Center for Translational Molecular Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development

MedicineBiochemistry, 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 16 papers. Top paper: “Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1”.

Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1

Journal of Developmental & Behavioral Pediatrics(2020)10.1097/dbp.0000000000000785

N/A

0.510DataRank · unranked

17 citations

Colby Chlebowski, Lisa Joseph, Cristan Farmer, Dee Adedipe, M. Weiss +6 more

Phenotypic expression of swallowing function in Niemann–Pick disease type C1

Orphanet Journal of Rare Diseases(2022)10.1186/s13023-022-02472-w

N/A

0.333DataRank · unranked

7 citations

Andrea M. Muñoz, Ninet Sinaii, Nicole M. Farhat, Andrew C. Smith, Simona Bianconi +5 more

Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63418

N/A

0.310DataRank · unranked

4 citations

Sara K. Inati, Samar Rahhal, Omar Khan, Luca Bartolini, Audrey Thurm +5 more

Assessing Postnatal Mortality in Smith–Lemli–Opitz Syndrome

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63875

N/A

0.172DataRank · unranked

2 citations

Samar Rahhal, Simona Bianconi, Tristan Furnary, Forbes D. Porter, Aishwarya Selvaraman

Statins for Smith-Lemli-Opitz syndrome

Cochrane Database of Systematic Reviews(2020)10.1002/14651858.cd013521

N/A

0DataRank · unranked

6 citations

Simona Bianconi, Alicia A. Livinski, Yi‐Ping Fu, Alan T. Remaley, Forbes D. Porter +1 more

Hepatocellular carcinoma as a complication of Niemann‐Pick disease type C1

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62382

N/A

0DataRank · unranked

13 citations

Simona Bianconi, Nicole Y. Farhat, David E. Kleiner, Marie Nelson, Forbes D. Porter +1 more

Auditory phenotype of Smith–Lemli–Opitz syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62087

N/A

0DataRank · unranked

10 citations

Sarah Sydlowski, Kelly King, Simona Bianconi, An Dang, Forbes D. Porter +2 more

X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model

Genetics in Medicine(2021)10.1038/s41436-021-01224-8

N/A

0DataRank · unranked

14 citations

Simona Bianconi, Andrew C. Smith, Niamh X. Cawley, An Dang, Dylan Hammond +14 more

Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1

Genetics in Medicine(2022)10.1016/j.gim.2022.11.017

N/A

0DataRank · unranked

34 citations

Nicole Y. Farhat, Ninet Sinaii, An Dang, Changrui Xiao, Elizabeth Berry‐Kravis +6 more

Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

Molecular Genetics and Metabolism Reports(2023)10.1016/j.ymgmr.2023.101001

N/A

0DataRank · unranked

2 citations

Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault +10 more

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108362

N/A

0DataRank · unranked

10 citations

Amanda Thomas‐Wilson, Emily Groopman, Vimla S. Aggarwal, Simona Bianconi, Raquel Fernandez +9 more

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders

American Journal on Intellectual and Developmental Disabilities(2020)10.1352/1944-7558-125.6.475

N/A

0DataRank · unranked

64 citations

Aaron J. Kaat, Audrey Thurm, Irina Anselm, Natacha Akshoomoff, Amanda Bennett +25 more

Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109716

N/A

0DataRank · unranked

0 citations

Simona Bianconi, Rebecca Jaeger, Nicole Y. Farhat, Derek Alexander, Ninet Sinaii +4 more

Neurofilament light chain levels correlate with clinical measures in CLN3 disease

Genetics in Medicine(2020)10.1038/s41436-020-01035-3

N/A

0DataRank · unranked

23 citations

Ninet Sinaii, Ruturaj Masvekar, Eva H. Baker, Audrey Thurm, Ariane Soldatos +4 more

Low Incidence of Postdural Puncture Headache Further Reduced With Atraumatic Spinal Needle: A Retrospective Cohort Study

Pediatric Neurology(2020)10.1016/j.pediatrneurol.2020.10.001

N/A

0DataRank · unranked

11 citations

Cristan Farmer, An Dang, Simona Bianconi, Forbes D. Porter, Nicole Y. Farhat

Oxidative phosphorylation in creatine transporter deficiency

NMR in Biomedicine(2020)10.1002/nbm.4419

N/A

0DataRank · unranked

8 citations

Simona Bianconi, Jan Willem van der Veen, An Dang, JoEllyn Stolinski, Kim M. Cecil +4 more