Marwan Shinawi

Also affiliated with Washington University in St. Louis, Pediatrics and Genetics, Center for Genomic Science

Biochemistry, 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 4%percentile

0.660Author 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 →

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

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

Brain(2023)10.1093/brain/awad292

Top 30%

0.660DataRank

Top 30%23 citations

Eduardo Pérez‐Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati, Chiara Klöckner +41 more

Papers

Driven by 25 papers — median percentile 70. Top paper: “SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis”.

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

Brain(2023)10.1093/brain/awad292

Top 30%

0.660DataRank

Top 30%23 citations

Eduardo Pérez‐Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati, Chiara Klöckner +41 more

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

Genome Medicine(2024)10.1186/s13073-024-01411-7

N/A

0.474DataRank · unranked

17 citations

Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi +38 more

Overcoming presynaptic effects of VAMP2 mutations with 4‐aminopyridine treatment

Human Mutation(2020)10.1002/humu.24109

N/A

0DataRank · unranked

21 citations

Haiyan Li, Barış Alten, Magda Santos, Ruiji Jiang, Brianna M. Paul +15 more

Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype

Bone(2020)10.1016/j.bone.2020.115705

N/A

0DataRank · unranked

7 citations

Hongjun Zheng, Ina Amarillo, Audrey McAlinden, Marwan Shinawi, James L. Shepherdson

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Genetics in Medicine(2020)10.1038/s41436-020-01020-w

N/A

0DataRank · unranked

47 citations

Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker +53 more

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

UNC Libraries(2020)10.17615/dqyv-bh72

N/A

0DataRank · unranked

2 citations

Patricia A. Eng, M. Lance Cooper, Jonathan S. Berg, Marwan Shinawi, Weimin He +17 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

Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome

Nature Communications(2021)10.1038/s41467-021-24800-7

N/A

0DataRank · unranked

49 citations

Taylor A. LaValle, Marwan Shinawi, Sai Mukund Ramakrishnan, Haley Abel, Cheryl A. Hill +14 more

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Brain(2021)10.1093/brain/awab299

N/A

0DataRank · unranked

42 citations

Ban H. Edani, Simone Martinelli, Hana Hansíková, Erik A. Eklund, Caterina Caputi +45 more

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

0DataRank · unranked

41 citations

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

DNMT3Aovergrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults

Blood(2021)10.1182/blood.2021014052

N/A

0DataRank · unranked

19 citations

Amanda M. Smith, Sharon E. Heath, Eric J. Duncavage, Matthew J. Oberley, David R. Freyer +13 more

A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1

Molecular Genetics and Metabolism Reports(2021)10.1016/j.ymgmr.2021.100772

N/A

0DataRank · unranked

12 citations

Laura Linneman, Sofia E. Luna, Barbara B. Warner, Yumirle P. Turmelle, Sakil Kulkarni +8 more

DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12565

N/A

0DataRank · unranked

7 citations

Parith Wongkittichote, Earnest James Paul Daniel, Rodrigo Tzovenos Starosta, Keisuke Ueda, Bobby G. Ng +4 more

Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.07.002

N/A

0DataRank · unranked

2 citations

Martina Magistrati, Joshua S. Shimony, Christopher D. Smyser, Seyed Ali Fatemi, Amena Smith Fine +4 more

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.009

N/A

0DataRank · unranked

13 citations

Ashish R. Deshwar, Yan Huang, Scott Barish, Xi Zhang, Sanaa Choufani +30 more

MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks

Journal of Allergy and Clinical Immunology(2023)10.1016/j.jaci.2023.12.001

N/A

0DataRank · unranked

10 citations

David R O’Leary, Nermina Saucier, Faiz Ahmad, Lynn S. White, Le’Mark Russell +8 more

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

Brain(2023)10.1093/brain/awad124

N/A

0DataRank · unranked

13 citations

Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak +24 more

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.007

N/A

0DataRank · unranked

8 citations

Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C. Creekmore, William Burns +30 more

Case report: ocular manifestations of a gain-of-function mutation in CLCN6 , a newly diagnosed disease

Ophthalmic Genetics(2023)10.1080/13816810.2023.2291683

N/A

0DataRank · unranked

0 citations

Sameera Nadimpalli, Sudhi P. Kurup, F. Sessions Cole, Russell Huang, Kathleen Sisco +7 more

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.007

N/A

0DataRank · unranked

18 citations

Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae‐Ik Choi, Carolyn A Allan +51 more

Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Annals of Neurology(2024)10.1002/ana.27077

N/A

0DataRank · unranked

10 citations

Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert +74 more

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.109004

N/A

0DataRank · unranked

0 citations

Daniel Wegner, Alexander J. Paul, William Buchser, Robert G. Schmidt, Jai Prakash Sharma +14 more

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2019.12.007

N/A

0DataRank · unranked

114 citations

Ana Petracovici, Chongsheng He, Hannah W. Moore, Raymond J. Louie, Muhammad Ansar +27 more

Atypical Presentation of IARS1‐Related Disorder: Expanding the Phenotype and Genotype

JIMD Reports(2025)10.1002/jmd2.70020

N/A

0DataRank · unranked

1 citations

Kira E. Jonatzke, Benjamin T. Hyde, Lance W. Peterson, Mai He, Robert C. McKinstry +3 more

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function

Blood(2020)10.1182/blood.2020009620

N/A

0DataRank · unranked

103 citations

Alicia Bach, Saara Kaviany, Luana Chiquetto Paracatu, Maleewan Kitcharoensakkul, Magdalena Walkiewicz +31 more

Marwan Shinawi

Indexed papers

Top data-sharing exemplar

Papers