Forbes D. Porter

Also affiliated with Eunice Kennedy Shriver National Institute of Child Health and Human Development

MedicineBiochemistry, Genetics and Molecular BiologyChemistry

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 66 papers. Top paper: “Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1”.

Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1

Biomarker Research(2023)10.1186/s40364-023-00448-x

N/A

0.958DataRank · unranked

28 citations

Niamh X. Cawley, Rachel Luke, Katelin E. J. Scott, Nicholas L. Johnson, Nicole Y. Farhat +9 more

Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits

Translational Psychiatry(2021)10.1038/s41398-021-01580-8

N/A

0.856DataRank · unranked

23 citations

Alan T. Remaley, Audrey Thurm, Leah R. Jager, Christopher A. Wassif, Lisa E. Kratz +8 more

Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures

Journal of Inherited Metabolic Disease(2021)10.1002/jimd.12366

N/A

0.810DataRank · unranked

10 citations

Sara K. Inati, Ariane Soldatos, Gina Norato, Eva H. Baker, Audrey Thurm +7 more

Use of the Vineland‐3, a measure of adaptive functioning, in CLN3

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62607

N/A

0.745DataRank · unranked

15 citations

Audrey Thurm, Cristan Farmer, Ariane Soldatos, Colby Chlebowski, Julie K. O'Reilly +2 more

Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.01.007

N/A

0.546DataRank · unranked

37 citations

Pamela Kell, Dennis J. Dietzen, Nicole Y. Farhat, An Dang, Forbes D. Porter +13 more

The Platform Vector Gene Therapies Project: Increasing the Efficiency of Adeno-Associated Virus Gene Therapy Clinical Trial Startup

Human Gene Therapy(2020)10.1089/hum.2020.259

N/A

0.529DataRank · unranked

33 citations

Elizabeth A. Ottinger, Deanna Portero, Richa Madan Lomash, Asaf Alimardanov, Pramod Terse +35 more

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

Statins for Smith-Lemli-Opitz syndrome

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

N/A

0.292DataRank · unranked

6 citations

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

Brain proton MR spectroscopy measurements in CLN3 disease

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107584

N/A

0.208DataRank · unranked

3 citations

Eva H. Baker, Cristan Farmer, Ariane Soldatos, Audrey Thurm, Forbes D. Porter +1 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

Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder

Rare(2025)10.1016/j.rare.2025.100065

N/A

0.165DataRank · unranked

2 citations

Lynne A. Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl +4 more

Cerebrospinal Fluid and Serum Neuron‐Specific Enolase in Niemann‐Pick Disease Type C1

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63970

N/A

0.165DataRank · unranked

2 citations

Derek Alexander, Desiree A. Labor, Orsolya K. Albert, Kendall P. Robbins, Elizabeth Berry‐Kravis +2 more

Swallowing characterization of adult-onset Niemann-Pick, type C1 patients

Orphanet Journal of Rare Diseases(2024)10.1186/s13023-024-03241-7

N/A

0.104DataRank · unranked

1 citations

Andrea M. Muñoz, Ninet Sinaii, Hibaaq O. Mohamed, Nicole M. Farhat, Derek Alexander +3 more

A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1

BMC Biology(2021)10.1186/s12915-021-01133-x

N/A

0DataRank · unranked

23 citations

Insung Kang, Raffaella De Pace, Christopher A. Wassif, Hideji Fujiwara, Pamela Kell +6 more

The role of Niemann-Pick type C2 in zebrafish embryonic development

Development(2021)10.1242/dev.194258

N/A

0DataRank · unranked

13 citations

Ana J. Johnson Escauriza, Chon‐Hwa Tsai‐Morris, Benjamin Feldman, Ryan Dale, Christopher A. Wassif +2 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

A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1

Molecular Genetics and Metabolism Reports(2021)10.1016/j.ymgmr.2021.100772

N/A

0DataRank · unranked

12 citations

Laura Linneman, Sofia E. Luna, Barbara B. Warner, Yumirle P. Turmelle, Sakil Kulkarni +8 more

Characterizing upper limb function in the context of activities of daily living in CLN3 disease

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62114

N/A

0DataRank · unranked

5 citations

Jordan Wickstrom, Rebecca Parks, Cris Zampieri, T. T. Nguyen, Audrey Thurm +8 more

Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.11.008

N/A

0DataRank · unranked

13 citations

Julia C. Yerger, Mason Fellmeth, Jenny Serra‐Vinardell, Fatemeh Navid, Christopher A. Wassif +3 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

Scoping review of COVID-19-related systematic reviews and meta-analyses: can we really have confidence in their results?

Postgraduate Medical Journal(2021)10.1136/postgradmedj-2020-139392

N/A

0DataRank · unranked

10 citations

Michelle Hajdenberg, Francisco J. Barrera, Skand Shekhar, Caroline E. Copacino, Pablo J. Moreno‐Peña +13 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

Consistently High Agreement Between Independent Raters of Niemann-Pick Type C1 Clinical Severity Scale in Phase 2/3 Trial

Pediatric Neurology(2021)10.1016/j.pediatrneurol.2021.11.009

N/A

0DataRank · unranked

3 citations

Laurie Bailey, Katherine Friedmann, Donald M. Bushnell, Danielle Rodriguez, Elizabeth Berry‐Kravis +2 more

CLN3 is required for the clearance of glycerophosphodiesters from lysosomes

Nature(2022)10.1038/s41586-022-05221-y

N/A

0DataRank · unranked

140 citations

Wentao Dong, Uche N. Medoh, Andrew L. Cangelosi, Vimisha Dharamdasani, Sze Ham Chan +11 more

Modeling SARS-CoV-2 and influenza infections and antiviral treatments in human lung epithelial tissue equivalents

Communications Biology(2022)10.1038/s42003-022-03753-7

N/A

0DataRank · unranked

35 citations

Anna Allué‐Guardia, Yu‐Chi Chen, Andreu Garcia‐Vilanova, Olive Jung, Steven L. Coon +18 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

Phenotype assessment for neurodegenerative murine models with ataxia and application to Niemann–Pick disease, type C1

Biology Open(2022)10.1242/bio.059052

N/A

0DataRank · unranked

25 citations

Antony Cougnoux, Craig B. Abbott, Rachel Luke, Tannia S. Clark, Niamh X. Cawley +3 more

Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease

JCI Insight(2022)10.1172/jci.insight.160308

N/A

0DataRank · unranked

15 citations

Kylie J. Schache, Ruth D. Azaria, Esmée Q. Kuiper, Steven Erwood, Evgueni A. Ivakine +7 more

Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression

Scientific Reports(2022)10.1038/s41598-022-06112-y

N/A

0DataRank · unranked

14 citations

Dawn E. Watkins‐Chow, Nicholas L. Johnson, Nicole Y. Farhat, Frances M. Platt, Ryan Dale +4 more

Complex N-Linked Glycosylation: A Potential Modifier of Niemann–Pick Disease, Type C1 Pathology

International Journal of Molecular Sciences(2022)10.3390/ijms23095082

N/A

0DataRank · unranked

8 citations

A. Lyons, Daniel Abebe, Rachel Luke, Julia C. Yerger, Rebecca Telese +4 more

Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63064

N/A

0DataRank · unranked

0 citations

Muhammad Yousef, Cynthia J. Tifft, Kisha Jenkins, Andrew C. Smith, Andrea Padilla-Muñoz +4 more

Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107656

N/A

0DataRank · unranked

12 citations

Spencer Giddens, Nicole M. Farhat, Rachel Luke, Katelin E. J. Scott, Hibaaq O. Mohamed +6 more

Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation

Journal of Inherited Metabolic Disease(2023)10.1002/jimd.12595

N/A

0DataRank · unranked

9 citations

Irene J. Chang, Xutian Jiang, Lynne A. Wolfe, Bobby G. Ng, Christina Lam +15 more

A differential proteomics study of cerebrospinal fluid from individuals with Niemann‐Pick disease, Type C1

PROTEOMICS(2023)10.1002/pmic.202200378

N/A

0DataRank · unranked

8 citations

Melissa R. Pergande, Christopher A. Crutchfield, Brian C. Searle, Peter S. Backlund, Jaqueline A. Picache +8 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

Cerebrospinal Fluid Protein Biomarker Discovery in CLN3

Journal of Proteome Research(2023)10.1021/acs.jproteome.3c00199

N/A

0DataRank · unranked

3 citations

David E. Sleat, Kiersten Campbell, Nicholas L. Johnson, Haiyan Zheng, Christopher A. Wassif +3 more

Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus

BMC Genomics(2023)10.1186/s12864-023-09561-5

N/A

0DataRank · unranked

1 citations

Daniel Watson, Mohammad S. Alodadi, Sharie J. Haugabook, Gregory J. Tawa, Fady Hannah‐Shmouni +5 more

Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1

Journal of Lipid Research(2024)10.1016/j.jlr.2024.100600

N/A

0DataRank · unranked

17 citations

Pamela Kell, David E. Scherrer, Dennis J. Dietzen, Charles H. Vite, Elizabeth Berry‐Kravis +6 more

Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1

International Journal of Molecular Sciences(2024)10.3390/ijms25084217

N/A

0DataRank · unranked

11 citations

Derek Alexander, K. McKee, James Iben, Jorge L. Rodriguez‐Gil, Christopher A. Wassif +4 more

Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108570

N/A

0DataRank · unranked

2 citations

Niamh X. Cawley, Samar Rahhal, Aishwarya Selvaraman, Audrey Thurm, Christopher A. Wassif +2 more

Optimization of systemic AAV9 gene therapy in Niemann-Pick disease type C1 mice

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.06.07.597901

N/A

0DataRank · unranked

2 citations

Alana L. Gibson, Tansy Gu, Cristin Davidson, Art Incao, Katerina Melnyk +7 more

Swallowing assessments: A unique methodology to enhance medical research

Research Methods in Medicine & Health Sciences(2024)10.1177/26320843241296033

N/A

0DataRank · unranked

0 citations

Andrea M. Muñoz, Ninet Sinaii, Hibaaq O. Mohamed, Monique King, An Dang +3 more

Cholesterol Depletion with U18666A and Methyl-β Cyclodextrin Increased Small Molecule Permeability Across Brain Microvascular Endothelial Cells

Annals of Biomedical Engineering(2025)10.1007/s10439-025-03841-9

N/A

0DataRank · unranked

7 citations

Viviana Alpízar Vargas, Ken D. Brandon, Gurneet S. Sangha, Callie M. Weber, Andrew Li +9 more

Elevated Cerebrospinal Fluid Total Tau in Niemann‐Pick Disease Type C1 : Correlation With Clinical Severity and Response to Therapeutic Interventions

Journal of Inherited Metabolic Disease(2025)10.1002/jimd.70016

N/A

0DataRank · unranked

4 citations

Ruyu Zhou, Nicole M. Farhat, James Iben, Derek Alexander, Rachel Luke +11 more

Biomarker Validation in NPC1 : Foundations for Clinical Trials and Regulatory Alignment

Journal of Inherited Metabolic Disease(2025)10.1002/jimd.70075

N/A

0DataRank · unranked

1 citations

Stephanie M. Cologna, Elizabeth Berry‐Kravis, Jeanine R. Jarnes, Forbes D. Porter, Krista Casazza

Prevalence of Neutralizing Antibodies to AAV2 and AAV9 in Individuals with Niemann-Pick Disease, Type C1

Human Gene Therapy(2025)10.1089/hum.2024.233

N/A

0DataRank · unranked

1 citations

Cristin Davidson, Derek Alexander, Charles P. Venditti, Forbes D. Porter, Avani V. Mylvara

Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103443

N/A

0DataRank · unranked

0 citations

Ruyu Zhou, Avani V. Mylvara, Cameron Padilla, Derek Alexander, Nicole Y. Farhat +7 more

Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109254

N/A

0DataRank · unranked

0 citations

Derek Alexander, Orsolya K. Albert, Kendall P. Robbins, Desiree A. Labor, Aiden J. Borruso +4 more

Prevalence of Diabetes and Hypertension and Their Associated Risks for Poor Outcomes in Covid-19 Patients

Journal of the Endocrine Society(2020)10.1210/jendso/bvaa102

N/A

0DataRank · unranked

73 citations

Skand Shekhar, Rachel Wurth, Pablo J. Moreno‐Peña, Oscar J. Ponce, Michelle Hajdenberg +12 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

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

Disruption of Dhcr7 and Insig1/2 in cholesterol metabolism causes defects in bone formation and homeostasis through primary cilium formation

Bone Research(2020)10.1038/s41413-019-0078-3

N/A

0DataRank · unranked

57 citations

Kenichi Ogata, Hiroki Yoshioka, Junbo Shim, Christopher A. Wassif, Forbes D. Porter +2 more

Endocrine Conditions and COVID-19

Hormone and Metabolic Research(2020)10.1055/a-1172-1352

N/A

0DataRank · unranked

44 citations

Rachel Wurth, Crystal Kamilaris, Graeme Eisenhofer, Francisco J. Barrera, Michelle Hajdenberg +7 more

Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1

JAMA Neurology(2020)10.1001/jamaneurol.2020.3241

N/A

0DataRank · unranked

44 citations

Andrew C. Smith, Ninet Sinaii, Nicole Y. Farhat, Monique C. King, Leonza Machielse +2 more

Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.11.005

N/A

0DataRank · unranked

23 citations

Pamela Kell, Dennis J. Dietzen, Nicole Y. Farhat, An Dang, Forbes D. Porter +12 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

Single Cell Transcriptome Analysis of Niemann–Pick Disease, Type C1 Cerebella

International Journal of Molecular Sciences(2020)10.3390/ijms21155368

N/A

0DataRank · unranked

38 citations

Julia C. Yerger, Mason Fellmeth, Jenny Serra‐Vinardell, Kyle B. Martin, Fatemeh Navid +5 more

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1

Disease Models & Mechanisms(2020)10.1242/dmm.042614

N/A

0DataRank · unranked

37 citations

Dawn E. Watkins‐Chow, Laura L. Baxter, Gene Elliot, Ursula L. Harper, Stephen Wincovitch +10 more

Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology

PLoS ONE(2020)10.1371/journal.pone.0227829

N/A

0DataRank · unranked

35 citations

Caitlin Sojka, Antony Cougnoux, A. Lyons, Elena‐Raluca Nicoli, Christopher A. Wassif +2 more

Toll-like receptor mediated lysozyme expression in Niemann-pick disease, type C1

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.10.009

N/A

0DataRank · unranked

7 citations

Julia C. Yerger, Mason Fellmeth, Jenny Serra‐Vinardell, Christopher A. Wassif, Niamh X. Cawley +2 more

An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene

Stem Cell Research(2020)10.1016/j.scr.2020.101737

N/A

0DataRank · unranked

4 citations

Manisha Pradhan, Miao Xu, Amanda Roeder, Jeanette Beers, Jizhong Zou +4 more

Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics

Human Molecular Genetics(2021)10.1093/hmg/ddab194

N/A

0DataRank · unranked

24 citations

Laura L. Baxter, Dawn E. Watkins‐Chow, Nicholas L. Johnson, Cristin Davidson, S R Carlson +9 more