James P. Orengo

MedicineNeuroscienceBiochemistry, 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: “SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia”.

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460

N/A

0.992DataRank · unranked

35 citations

Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa +93 more

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

N/A

0.564DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121

N/A

0.292DataRank · unranked

6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 more

Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1

JCI Insight(2021)10.1172/jci.insight.144955

N/A

0DataRank · unranked

18 citations

Stephanie L. Coffin, Eder Xhako, Dany El-Najjar, James P. Orengo, Elizabeth Alcala +6 more

Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model

JCI Insight(2022)10.1172/jci.insight.154442

N/A

0DataRank · unranked

8 citations

Larissa Nitschke, Meike E. van der Heijden, Nicholas A. Ciaburri, Harry T. Orr, Huda Y. Zoghbi +1 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174

N/A

0DataRank · unranked

4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 more

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

N/A

0DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 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

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1397

N/A

0DataRank · unranked

25 citations

Rebecca C. Spillmann, Jill A. Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch +17 more

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

0DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more