Rosanna Weksberg

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 6%percentile

0.208Author DataRank

Indexed papers

2in 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 2 indexed papers 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.

Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation

medRxiv(2022)10.1101/2022.05.05.22274031

Top 65%

0.208DataRank

Top 65%3 citations

Bhooma Thiruvahindrapuram, Ada J. S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer Howe +95 more

Papers

Driven by 21 papers — median percentile 35. Top paper: “Functional impact of global rare copy number variation in autism spectrum disorders”.

Functional impact of global rare copy number variation in autism spectrum disorders

Nature(2010)10.1038/nature09146

N/A

1.1DataRank · unranked

2044 citations

Alistair T. Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan +204 more

Structural Variation of Chromosomes in Autism Spectrum Disorder

The American Journal of Human Genetics(2008)10.1016/j.ajhg.2007.12.009

N/A

1.1DataRank · unranked

1855 citations

Abdul Noor, John B. Vincent, Anath C. Lionel, Lars Feuk, Jennifer Skaug +30 more

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.014

N/A

0.546DataRank · unranked

37 citations

Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Hans T. Björnsson +57 more

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency

Human Molecular Genetics(2022)10.1093/hmg/ddac098

N/A

0.345DataRank · unranked

9 citations

Anna Lena Burgemeister, Vincent Cantagrel, Jeanne Amiel, Karine Siquier-Pernet, Nathalie Boddaert +16 more

Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation

medRxiv(2022)10.1101/2022.05.05.22274031

Top 65%

0.208DataRank

Top 65%3 citations

Bhooma Thiruvahindrapuram, Ada J. S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer Howe +95 more

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

European Journal of Human Genetics(2022)10.1038/s41431-022-01083-0

N/A

0DataRank · unranked

28 citations

Eric Chater‐Diehl, Sanaa Choufani, Elizabeth Y Wei, Rebecca R. Kianmahd, Anna Yu +8 more

Multi-omics on truncating ASXL1 mutations in Bohring Opitz syndrome identify dysregulation of canonical and non-canonical Wnt signaling

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.15.520167

N/A

0DataRank · unranked

3 citations

Angela Wei, Zain Awamleh, Meghna Singh, Aileen Ning, Analeyla Herrera +4 more

ASXL1 mutations that cause Bohring Opitz Syndrome (BOS) or acute myeloid leukemia share epigenomic and transcriptomic signatures

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.15.519823

N/A

0DataRank · unranked

1 citations

Zain Awamleh, Angela Wei, Bianca Russell, Rosanna Weksberg, Valerie A. Arboleda +1 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

Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation

JCI Insight(2023)10.1172/jci.insight.167744

N/A

0DataRank · unranked

13 citations

Angela Wei, Zain Awamleh, Meghna Singh, Aileen Ning, Analeyla Herrera +4 more

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63130

N/A

0DataRank · unranked

3 citations

Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee +34 more

Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors

Clinical Cancer Research(2024)10.1158/1078-0432.ccr-23-4033

N/A

0DataRank · unranked

46 citations

Anirban Das, Rose B. McGee, Yoshiko Nakano, Jack Brzezinski, Sarah Scollon +14 more

Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies

Clinical Cancer Research(2024)10.1158/1078-0432.ccr-24-1611

N/A

0DataRank · unranked

30 citations

Anirban Das, Sarah Scollon, Sarah G. Mitchell, Mary‐Louise C. Greer, Marielle E. Yohe +22 more

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

npj Genomic Medicine(2024)10.1038/s41525-024-00398-9

N/A

0DataRank · unranked

3 citations

Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes +66 more

ASXL1 truncating variants in BOS and myeloid leukemia drive shared disruption of Wnt-signaling pathways but have differential isoform usage of RUNX3

BMC Medical Genomics(2024)10.1186/s12920-024-02039-7

N/A

0DataRank · unranked

3 citations

Zain Awamleh, Mili Sinvhal, Andrew C.A. Wan, Leroy Bondhus, Angela Wei +4 more

Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2 -, SMARCB1 -, and LZTR1 -Related Schwannomatosis

Clinical Cancer Research(2025)10.1158/1078-0432.ccr-24-3278

N/A

0DataRank · unranked

8 citations

Marjolijn C.J. Jongmans, Gail E. Tomlinson, Mary‐Louise C. Greer, Sarah Scollon, Sarah G. Mitchell +18 more

Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics

EBioMedicine(2025)10.1016/j.ebiom.2025.105677

N/A

0DataRank · unranked

6 citations

Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K Christman, Elise Pisan +36 more

The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome

Nucleic Acids Research(2021)10.1093/nar/gkab475

N/A

0DataRank · unranked

17 citations

Daniel Deegan, Jacklyn Huhn, Emily M. Traxler, Yemin Lan, Rosanna Weksberg +4 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62124

N/A

0DataRank · unranked

72 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

Molecular Genetics and Metabolism(2021)10.1016/s1096-7192(21)00373-5

N/A

0DataRank · unranked

1 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Genomic architecture of autism from comprehensive whole-genome sequence annotation

Cell(2022)10.1016/j.cell.2022.10.009

N/A

0DataRank · unranked

280 citations

Bhooma Thiruvahindrapuram, Ada J. S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer Howe +95 more

Rosanna Weksberg

Indexed papers

Top data-sharing exemplar

Papers