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

Ghayda Mirzaa

University of Washington

ORCID: 0000-0003-2648-7657

Also affiliated with Norcliffe Foundation, Brotman Baty Institute

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 7%percentile
0.165Author DataRank

Indexed papers

1in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology
Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Top data-sharing exemplar

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

Journal of Clinical Investigation(2025)10.1172/jci189830
Top 70%
0.165DataRank
Top 70%2 citations

Khaing Phyu Aung, Vivian W. Y. Liao, Nathan L. Absalom, Han Chow Chua, Xuetao Gan +46 more

Papers

Driven by 19 papers — median percentile 30. Top paper: “COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay”.

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.002
N/A
0.561DataRank · unranked
41 citations

Lindsay C. Burrage, Rossella Venditti, Aurélie Clément, Bernardo Blanco‐Sánchez, Mahim Jain +48 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Nature Communications(2025)10.1038/s41467-025-64838-5
N/A
0.241DataRank · unranked
4 citations

Keqin Yan, Raissa Relator, Mathieu Lévesque, P.S. Jayasinghe, Sara Timpano +61 more

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

Annals of Clinical and Translational Neurology(2023)10.1002/acn3.51786
N/A
0.241DataRank · unranked
4 citations

Ghayda Mirzaa, Elizabeth Blue, Giuseppe Albano, Danny E. Miller, Aimee Allworth +28 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Research Square(2023)10.21203/rs.3.rs-3317938/v1
N/A
0.241DataRank · unranked
4 citations

Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Binnaz Yalcin +57 more

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

Rare(2024)10.1016/j.rare.2024.100040
N/A
0.208DataRank · unranked
3 citations

Samuel J. Huang, Alyna Khan, Katie Golden‐Grant, Brenna Boyd, Elisabeth A. Rosenthal +37 more

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

Journal of Clinical Investigation(2025)10.1172/jci189830
Top 70%
0.165DataRank
Top 70%2 citations

Khaing Phyu Aung, Vivian W. Y. Liao, Nathan L. Absalom, Han Chow Chua, Xuetao Gan +46 more

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00870-6
N/A
0DataRank · unranked
117 citations

Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo +95 more

A dyadic approach to the delineation of diagnostic entities in clinical genomics

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2020.11.013
N/A
0DataRank · unranked
116 citations

Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck +42 more

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

Brain(2021)10.1093/brain/awab376
N/A
0DataRank · unranked
55 citations

Matthew Berkseth, Rylee Shear, Lorenzo Gonzalez, Andrew E. Timms, Josef Šulc +19 more

A standard of care for individuals with PIK3CA ‐related disorders: An international expert consensus statement

Clinical Genetics(2021)10.1111/cge.14027
N/A
0DataRank · unranked
55 citations

Myfanwy Rawson, Eulàlia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian +15 more

Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101886
N/A
0DataRank · unranked
7 citations

Jennifer N. Cech, Cate Paschal, Bri Dingmann, Anna I. Scott, Jenny Thies +24 more

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.05.013
N/A
0DataRank · unranked
1 citations

Rosie Sullivan, Mischa S. G. Ruegg, Julia A. Horsfield, Jordan Doran, Gemma Poke +30 more

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Neuron(2020)10.1016/j.neuron.2020.01.042
N/A
0DataRank · unranked
223 citations

Mariah L. Hoye, Ruiji Jiang, Bethany Johnson-Kerner, Lindsey Suit, Srivats Venkataramanan +49 more

Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro

Molecular Psychiatry(2025)10.1038/s41380-025-03364-8
N/A
0DataRank · unranked
1 citations

Solène Remizé, Liberty François‐Moutal, Dévina C. Ung, Audrey Dangoumau, Sylviane Marouillat +24 more

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Neuron(2020)10.1016/j.neuron.2020.10.035
N/A
0DataRank · unranked
59 citations

A. Dinsmoor Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss +32 more

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

European Journal of Human Genetics(2020)10.1038/s41431-020-0571-6
N/A
0DataRank · unranked
38 citations

Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thévenon, Ange‐Line Bruel +60 more

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

Neuron(2020)10.1016/j.neuron.2020.01.027
N/A
0DataRank · unranked
35 citations

Alison M. Muir, Won‐Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao +26 more

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.019
N/A
0DataRank · unranked
25 citations

Philipp Kirchner, Antje Wiesener, Irma van de Beek, Quinten Waisfisz, Mieke M. van Haelst +43 more

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.09.14.297234
N/A
0DataRank · unranked
1 citations

Lindsay C. Burrage, Aurélie Clément, Bernardo Blanco‐Sánchez, Rossella Venditti, Mahim Jain +49 more