🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Julia Hoefele

Duke University

ORCID: 0000-0002-7917-7129

Also affiliated with TUM Klinikum, Goethe Institut, Institute of Human Genetics, Ludwig-Maximilians-Universität München

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 11 papers. Top paper: “Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions”.

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.04.010
N/A
0.430DataRank · unranked
9 citations

Wenjun Jin, Christin Findeisen, Irene Valenzuela, Laura A. Devlin, Jill R. Murrell +35 more

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.008
N/A
0DataRank · unranked
34 citations

Konstantin Deutsch, Gregory J. Hoeprich, Jonathan Marquez, Tobias Hermle, Daniela A. Braun +28 more

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

Journal of Allergy and Clinical Immunology(2021)10.1016/j.jaci.2021.03.045
N/A
0DataRank · unranked
87 citations

Janet Chou, Laura Faletti, Veronika Haunerdinger, Lennart Opitz, Pascal Joset +55 more

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.008
N/A
0DataRank · unranked
27 citations

Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin +62 more

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Kidney International(2022)10.1016/j.kint.2022.03.019
N/A
0DataRank · unranked
193 citations

Émilie Cornec-Le Gall, Jan Halbritter, Krzysztof Kiryluk, Andrew Mallett, Rulan S. Parekh +57 more

The 2019 and 2021 International Workshops on Alport Syndrome

European Journal of Human Genetics(2022)10.1038/s41431-022-01075-0
N/A
0DataRank · unranked
37 citations

Jie Ding, Constantinos Deltas, Judy Savige, Beata S. Lipska‐Ziętkiewicz, Julia Hoefele +21 more

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

Genetics in Medicine(2022)10.1016/j.gim.2022.07.005
N/A
0DataRank · unranked
23 citations

Rachel VanCoillie, Elizabeth VanSickle, Deanna Alexis Carere, Kara Withrow, Erin Torti +43 more

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

PLoS Genetics(2023)10.1371/journal.pgen.1010796
N/A
0DataRank · unranked
26 citations

Oscar A. Cabrera, Julia Hoefele, Dinu Antony, Kaman Wu, Michael W. Stuck +21 more

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

Kidney International(2023)10.1016/j.kint.2023.11.032
N/A
0DataRank · unranked
9 citations

Thanh-Minh T. Nguyen, Can Koşukçu, Julia Calzada‐Wack, Yong Li, Nurit Assia Batzir +55 more

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science Advances(2020)10.1126/sciadv.abc9207
N/A
0DataRank · unranked
99 citations

Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson +95 more

Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

medRxiv(2023)10.1101/2023.03.21.23287206
N/A
0DataRank · unranked
1 citations

Thanh-Minh T. Nguyen, Can Koşukçu, Julia Calzada‐Wack, Yong Li, Seha Saygılı +47 more