Cynthia J. Tifft

Also affiliated with Government of the United States of America, National Human Genome Research Institute

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 52 papers. Top paper: “GM1 Gangliosidosis—A Mini-Review”.

GM1 Gangliosidosis—A Mini-Review

Frontiers in Genetics(2021)10.3389/fgene.2021.734878

N/A

2.2DataRank · unranked

92 citations

Ida Annunziata, Alessandra d’Azzo, Frances M. Platt, Cynthia J. Tifft, Karolina M. Stępień +1 more

GM1 gangliosidosis type II: Results of a 10-year prospective study

Genetics in Medicine(2024)10.1016/j.gim.2024.101144

N/A

0.557DataRank · unranked

19 citations

Cristan Farmer, Jean M. Johnston, Sangwoo T. Han, David Adams, Adam L. Hartman +24 more

Gene expression changes in Tay–Sachs disease begin early in fetal brain development

Journal of Inherited Metabolic Disease(2023)10.1002/jimd.12596

N/A

0.440DataRank · unranked

10 citations

Ashley Hirt, Elena‐Raluca Nicoli, Mari Kono, Camilo Toro, Richard L. Proia +2 more

AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 Trial

medRxiv(2025)10.1101/2025.07.28.25332074

N/A

0.212DataRank · unranked

3 citations

Precilla D’Souza, Jean M. Johnston, Maria T. Acosta, Cristan Farmer, Eva H. Baker +27 more

Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.01.29.577876

N/A

0.165DataRank · unranked

2 citations

Jaemin Kim, Yogesh K. Kushwaha, Alex Rajewski, Fabian David Nonis, Chintda Santiskulvong +17 more

Domain specific phenotypic expansion associated with variants in MACF1

medRxiv(2025)10.1101/2025.06.26.25330137

N/A

0.104DataRank · unranked

1 citations

Angad Jolly, Jill A. Rosenfeld, Paulina Bahena-Carbajal, Jonathan A. Bernstein, Devon Bonner +27 more

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.02.005

N/A

0DataRank · unranked

24 citations

Minal Menezes, Yiran Guo, Scott McLean, Håkon Håkonarson, Felicity Collins +13 more

Regulation of human development by ubiquitin chain editing of chromatin remodelers

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.01.23.917450

N/A

0DataRank · unranked

3 citations

Mohammed A. Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela Tiaki Uehara +24 more

The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment

Neuroscience Letters(2021)10.1016/j.neulet.2021.136195

N/A

0DataRank · unranked

59 citations

Mosufa Zainab, Cynthia J. Tifft, Camilo Toro

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

Science Advances(2021)10.1126/sciadv.abe2116

N/A

0DataRank · unranked

50 citations

Mohammed A. Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela Tiaki Uehara +28 more

Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased 1H NMR-Linked Metabolomics Strategy

Cells(2021)10.3390/cells10030572

N/A

0DataRank · unranked

8 citations

Yvonne L. Latour, Cynthia J. Tifft, Martin Grootveld, Benita Percival

Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders

Molecular Therapy(2022)10.1016/j.ymthe.2022.05.014

N/A

0DataRank · unranked

26 citations

Guangping Gao, Elizabeth Berry‐Kravis, Allison M. Bradbury, Carsten G. Bönnemann, Joseph D. Buxbaum +12 more

Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder

Scientific Reports(2022)10.1038/s41598-022-12789-y

N/A

0DataRank · unranked

23 citations

Audra A. Kramer, Sidharth Tyagi, Daniel F. Bennett, Cynthia J. Tifft, Precilla D’Souza +5 more

PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.01.103

N/A

0DataRank · unranked

21 citations

Andrew C. Kim, Karolyn Garcia, Lisa A. Schimmenti, Ellen F. Macnamara, Undiagnosed Diseases Network +4 more

Myoclonus generators in sialidosis

Clinical Neurophysiology Practice(2022)10.1016/j.cnp.2022.05.004

N/A

0DataRank · unranked

8 citations

Patrick Mcgurrin, Sanaz Attaripour, Alesandra d'Azzo, Cynthia J. Tifft, Camilo Toro +2 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

De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.06.518921

N/A

0DataRank · unranked

0 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +9 more

Thrombotic microangiopathy following systemic AAV administration is dependent on anti-capsid antibodies

Journal of Clinical Investigation(2023)10.1172/jci173510

N/A

0DataRank · unranked

135 citations

Manuela Corti, Kirsten E. Coleman, Megan B. Wichman, Julie Berthy, Precilla D’Souza +10 more

A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis

EBioMedicine(2023)10.1016/j.ebiom.2023.104627

N/A

0DataRank · unranked

21 citations

Rohini Sidhu, Mingxing Qian, Sonali Mishra, Elena‐Raluca Nicoli, Precilla D’Souza +12 more

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.001

N/A

0DataRank · unranked

13 citations

Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame +33 more

Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107508

N/A

0DataRank · unranked

7 citations

Mylene Huebecker, Sangwoo T. Han, Karolyn Garcia, Jeeva Munasinghe, Martin J. Lizak +19 more

Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis

Journal of Lipid Research(2023)10.1016/j.jlr.2023.100463

N/A

0DataRank · unranked

7 citations

Y. Terry Lee, Colleen Byrnes, Cuiling Li, Galina Tuymetova, Jenna Y. Bakir +6 more

Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107707

N/A

0DataRank · unranked

1 citations

Amelia J. Loydpierson, Yvonne L. Latour, Precilla D’Souza, Jennifer L. Murphy, Lynne A. Wolfe +14 more

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Genetics in Medicine(2023)10.1016/j.gim.2023.100833

N/A

0DataRank · unranked

6 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +95 more

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects

Orphanet Journal of Rare Diseases(2024)10.1186/s13023-024-03083-3

N/A

0DataRank · unranked

5 citations

Francine Molay, Sarah Hargadon, Cláudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu +10 more

Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients

Frontiers in Neuroimaging(2024)10.3389/fnimg.2024.1410848

N/A

0DataRank · unranked

6 citations

Josephine Kolstad, Jean M. Johnston, Precilla D’Souza, Anna Luisa Kühn, Zeynep Vardar +10 more

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing

JIMD Reports(2024)10.1002/jmd2.12459

N/A

0DataRank · unranked

4 citations

Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine V. Malicdan, David R. Adams +4 more

Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease

Neurobiology of Disease(2024)10.1016/j.nbd.2024.106760

N/A

0DataRank · unranked

1 citations

Y. Terry Lee, Colleen Byrnes, Jabili Angina, Danielle Springer, Galina Tuymetova +4 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

medRxiv(2024)10.1101/2024.01.04.24300778

N/A

0DataRank · unranked

5 citations

Cristan Farmer, Jean M. Johnston, Sangwoo T. Han, David R. Adams, Adam L. Hartman +23 more

Differential Tractography: A Biomarker for Neuronal Function in Neurodegenerative Disease

medRxiv(2024)10.1101/2024.08.25.24312255

N/A

0DataRank · unranked

4 citations

Zeynep Vardar, Anna Luisa Kühn, Jean M. Johnston, Precilla D’Souza, William A. Gahl +4 more

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Genome Medicine(2025)10.1186/s13073-025-01546-1

N/A

0DataRank · unranked

8 citations

Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network +94 more

Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109025

N/A

0DataRank · unranked

7 citations

Christopher Zoppo, Jean M. Johnston, Precilla D’Souza, Anna Luisa Kühn, Zeynep Vardar +14 more

A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis

NeuroSci(2025)10.3390/neurosci6020031

N/A

0DataRank · unranked

6 citations

Jean M. Johnston, Precilla D’Souza, Josephine Kolstad, Christopher Zoppo, Zeynep Vardar +9 more

CNS-targeted base editing of the major late-onset Tay-Sachs mutation alleviates disease in mice

Journal of Clinical Investigation(2025)10.1172/jci183434

N/A

0DataRank · unranked

5 citations

Mari Kono, Y Terry Lee, Samantha M. Olmsted, Vienna Huso, Jenna Y. Bakir +8 more

Differential tractography: an imaging marker for tissue degeneration in neurodegenerative diseases

Brain Communications(2025)10.1093/braincomms/fcaf198

N/A

0DataRank · unranked

4 citations

Zeynep Vardar, Anna Luisa Kühn, Jean M. Johnston, Precilla D’Souza, Muhammad Yousef +5 more

RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109105

N/A

0DataRank · unranked

3 citations

Thomas Cassini, Jiayu Fu, Barbara N. Pusey, Ellen F. Macnamara, F. Graeme Frost +7 more

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

Genetics in Medicine(2025)10.1016/j.gim.2025.101506

N/A

0DataRank · unranked

3 citations

Chu-Ting Chang, A. Declève, Gloria Brunori, W.H. Ludlam, Alden Huang +93 more

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

American Journal of Medical Genetics Part B Neuropsychiatric Genetics(2025)10.1002/ajmg.b.33047

N/A

0DataRank · unranked

1 citations

Audrey Thurm, Lisa Joseph, Maria T. Acosta, Ellen F. Macnamara, Colby Chlebowski +15 more

Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay–Sachs and Sandhoff diseases

Journal of Neurology(2025)10.1007/s00415-025-13091-3

N/A

0DataRank · unranked

4 citations

Selby I. Chipman, Jean M. Johnston, Maria T. Acosta, Camilo Toro, Cynthia J. Tifft +1 more

Brain Age Prediction in Type II GM1 Gangliosidosis

medRxiv(2025)10.1101/2025.04.23.25326206

N/A

0DataRank · unranked

2 citations

Selby I. Chipman, Precilla D’Souza, Jean M. Johnston, Muhammad Yousef, William A. Gahl +3 more

Deep Learning Cerebellar Magnetic Resonance Imaging Segmentation in Late-Onset GM2 Gangliosidosis: Implications for Phenotype

medRxiv(2025)10.1101/2025.04.08.25325262

N/A

0DataRank · unranked

1 citations

Selby I. Chipman, Jean M. Johnston, Maria T. Acosta, Cynthia J. Tifft, Camilo Toro +1 more

Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff Diseases

medRxiv(2025)10.1101/2025.08.05.25333048

N/A

0DataRank · unranked

1 citations

Leila Shirvan, Jean M. Johnston, Catherine Groden, John Yang, Andrea Ashton +13 more

Corrigendum to “Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients” [Molecular Genetics and Metabolism 2025 Mar;144(3):109025].

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109109

N/A

0DataRank · unranked

0 citations

Christopher Zoppo, Jean M. Johnston, Precilla D’Souza, Anna Luisa Kühn, Zeynep Vardar +14 more

BK channel activity in skin fibroblasts from patients with neurological disorder

Channels(2025)10.1080/19336950.2025.2542811

N/A

0DataRank · unranked

0 citations

Thomas R. Middendorf, Deborah DiSilvestre, David R. Adams, William A. Gahl, Ellen F. Macnamara +5 more

Issue Information

Human Mutation(2018)10.1002/humu.23568

N/A

0DataRank · unranked

0 citations

R. Donald Harvey, Tracy Dudding‐Byth, Liliana Catherine Patiño, Isabelle Beau, Adrien Morel +135 more

Diffusion tensor imaging in Chediak Higashi Disease

medRxiv(2025)10.1101/2025.08.06.25332949

N/A

0DataRank · unranked

0 citations

Selby I. Chipman, Cynthia J. Tifft, Camilo Toro, William A. Gahl, Maria T. Acosta +2 more

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

PLoS Genetics(2020)10.1371/journal.pgen.1008841

N/A

0DataRank · unranked

22 citations

Aurélie Clément, Sarah J. Stednitz, Jennifer Kyle, Judy Peirce, Marcie McFadden +18 more

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1544

N/A

0DataRank · unranked

15 citations

Ellen F. Macnamara, Precilla D’Souza, John Yang, Gilbert Vézina, Undiagnosed Diseases Network +5 more

Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development

Disease Models & Mechanisms(2020)10.1242/dmm.041913

N/A

0DataRank · unranked

10 citations

Tong Wang, Trevor Moreland, Rajalakshmi Veeranan‐Karmegam, Manxiu Ma, Chelsi Jeter +15 more

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61542

N/A

0DataRank · unranked

8 citations

Kyle E. Reichard, Lynne A. Wolfe, Brian P. Brooks, John J. DiGiovanna, Donald W. Hadley +7 more

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I

Journal of Clinical Medicine(2020)10.3390/jcm9030695

N/A

0DataRank · unranked

28 citations

Diantha van de Vlekkert, Yvan Campos, Leigh E. Fremuth, Jaclyn Cadaoas, Vish Koppaka +10 more