David A. Sweetser

Biochemistry, Genetics and Molecular BiologyMedicine

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 28 papers. Top paper: “De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment”.

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

Human Molecular Genetics(2020)10.1093/hmg/ddaa081

N/A

1.1DataRank · unranked

41 citations

Lauren C. Briere, Oguz Kanca, Paul C. Marcogliese, Melissa Walker, Frances A. High +13 more

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

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

Genetics(2023)10.1093/genetics/iyad110

N/A

0.396DataRank · unranked

13 citations

Lauren C. Briere, Kristy L. Jay, Jonathan C. Andrews, Melissa Walker, Lance H. Rodan +6 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

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

Annals of the Rheumatic Diseases(2022)10.1136/annrheumdis-2022-222629

N/A

0DataRank · unranked

70 citations

Shilpa Kodati, Laryssa A. Huryn, Hongying Wang, Blake M. Warner, Priyam Jani +95 more

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.011

N/A

0DataRank · unranked

27 citations

Gabrielle Lemire, Lauren C. Briere, Fang Liu, Marja W. Wessels, Xueqi Wang +13 more

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12526

N/A

0DataRank · unranked

17 citations

Gaëlle Friocourt, Naïg Guéguen, Marisa W. Friederich, Gérald Le Gac, Volkan Okur +34 more

Tle4 controls both developmental acquisition and early post-natal maturation of corticothalamic projection neuron identity

Cell Reports(2023)10.1016/j.celrep.2023.112957

N/A

0DataRank · unranked

38 citations

David A. Sweetser, Jeffrey D. Macklis, María J. Galazo

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

eLife(2023)10.7554/elife.89891

N/A

0DataRank · unranked

8 citations

Albert N. Alvarez, Mengqi Ma, Shenzhao Lu, Michael Crawford, Lauren C. Briere +8 more

A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome

Journal of Clinical Investigation(2023)10.1172/jci166497

N/A

0DataRank · unranked

4 citations

Lauren C. Briere, David A. Sweetser, Mark E. Lindsay, Patricia L. Musolino, Christian L. Lino Cardenas

A pooled electronic consultation program to improve access to genetics specialists

Genetics in Medicine Open(2023)10.1016/j.gimo.2023.100819

N/A

0DataRank · unranked

5 citations

Renée C. Pelletier, Daniel C. Chung, Susan A. Goldstein, Douglas S. Micalizzi, Kristen M. Shannon +5 more

High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases

Journal of Clinical Investigation(2023)10.1172/jci169619

N/A

0DataRank · unranked

3 citations

Takanori Sasaki, Joshua Keegan, Jennifer P. Nguyen, Alec Griffith, Alice Horisberger +21 more

A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists

medRxiv(2023)10.1101/2023.02.08.23284667

N/A

0DataRank · unranked

3 citations

Renée C. Pelletier, Daniel C. Chung, Susan A. Goldstein, Douglas S. Micalizzi, Kristen M. Shannon +5 more

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

(2023)10.7554/elife.89891.1

N/A

0DataRank · unranked

3 citations

Albert N. Alvarez, Mengqi Ma, Shenzhao Lu, Michael Crawford, Lauren C. Briere +8 more

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

(2023)10.7554/elife.89891.2

N/A

0DataRank · unranked

2 citations

Albert N. Alvarez, Mengqi Ma, Shenzhao Lu, Michael Crawford, Lauren C. Briere +8 more

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

medRxiv(2023)10.1101/2023.01.31.23285113

N/A

0DataRank · unranked

0 citations

Lauren C. Briere, Kristy Jay, Jonathan C. Andrews, Melissa Walker, Lance H. Rodan +6 more

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

medRxiv(2023)10.1101/2023.07.17.23292782

N/A

0DataRank · unranked

0 citations

Albert N. Alvarez, Mengqi Ma, Shenzhao Lu, Michael Crawford, Lauren C. Briere +8 more

Reviewer #3 (Public Review): Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

(2023)10.7554/elife.89891.2.sa0

N/A

0DataRank · unranked

0 citations

Albert N. Alvarez, Mengqi Ma, Shenzhao Lu, Michael W. Crawford, Lauren C. Briere +8 more

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.007

N/A

0DataRank · unranked

10 citations

Alice M. Tao, Shenzhao Lu, Mengqi Ma, Shabab B. Hannan, Rachel Slaugh +43 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 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

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

LONP1 Variants Are Associated With Clinically Diverse Phenotypes

Clinical Genetics(2025)10.1111/cge.70057

N/A

0DataRank · unranked

1 citations

Lu Qiao, Rebecca Hernan, David A. Sweetser, Jessica L. Waxler, Daryl A. Scott +34 more

Clinical, neuroimaging and molecular spectrum of TECPR2 -associated hereditary sensory and autonomic neuropathy with intellectual disability

medRxiv(2020)10.1101/2020.10.10.20202622

N/A

0DataRank · unranked

0 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Human Mutation(2021)10.1002/humu.24206

N/A

0DataRank · unranked

31 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

TLE4 Is a Critical Mediator of Osteoblast and Runx2-Dependent Bone Development

Frontiers in Cell and Developmental Biology(2021)10.3389/fcell.2021.671029

N/A

0DataRank · unranked

6 citations

Evangelos A. Theodorou, Carl S. Holland, Rae’e Yamin, Cathleen Raggio, Philip F. Giampietro +2 more

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy

Molecular Case Studies(2021)10.1101/mcs.a005827

N/A

0DataRank · unranked

30 citations

Melissa Walker, Frances A. High, Cynthia A. Cooper, Cassandra A. Rogers, Christine J. Callahan +14 more