Anne Slavotinek

Cincinnati Children's Hospital Medical Center

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 5%percentile

0.572Author DataRank

Indexed papers

4in 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 4 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.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

European Journal of Human Genetics(2024)10.1038/s41431-024-01701-z

Top 34%

0.572DataRank

Top 34%16 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +69 more

Papers

Driven by 52 papers — median percentile 66. Top paper: “Application of full-genome analysis to diagnose rare monogenic disorders”.

Application of full-genome analysis to diagnose rare monogenic disorders

npj Genomic Medicine(2021)10.1038/s41525-021-00241-5

N/A

0.598DataRank · unranked

53 citations

Monica Penon‐Portmann, K. Wong, Michal Levy‐Sakin, Michelle Verghese, Anne Slavotinek +15 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

European Journal of Human Genetics(2024)10.1038/s41431-024-01701-z

Top 34%

0.572DataRank

Top 34%16 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +69 more

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

npj Genomic Medicine(2023)10.1038/s41525-023-00353-0

N/A

0.568DataRank · unranked

43 citations

Shannon Rego, Nuriye Sahin‐Hodoglugil, Mark Kvale, Billie R. Lianoglou, Tiffany Yip +33 more

A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development

PLoS ONE(2010)10.1371/journal.pone.0010565

N/A

0.561DataRank · unranked

41 citations

Linda Nevin, Pooja Agarwal, Jan Riemer, Xiaoyang Bai, Allen Delaney +15 more

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.014

N/A

0.457DataRank · unranked

20 citations

Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep +40 more

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing

PEDIATRICS(2023)10.1542/peds.2022-060318

N/A

0.416DataRank · unranked

15 citations

Bart S. Ferket, Bruce D. Gelb, Lucia A. Hindorff, Kathleen D.M. Ferar, Mary E. Norton +6 more

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

European Journal of Human Genetics(2021)10.1038/s41431-021-00821-0

N/A

0.416DataRank · unranked

15 citations

Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot‐Bastaraud, Cecile Cieuta Walti +51 more

Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population

Clinical Genetics(2020)10.1111/cge.13830

N/A

0.406DataRank · unranked

14 citations

Stephanie Htun, Li‐Wen Lai, Max Krall, Menitha Poranki, Pierre‐Marie Martin +6 more

Retinopathy and optic atrophy in a case of COQ2 -related primary coenzyme Q 10 deficiency

Ophthalmic Genetics(2022)10.1080/13816810.2022.2141792

N/A

0.373DataRank · unranked

11 citations

David Blair, Anne Slavotinek, Anthony T. Moore, Jacque L. Duncan, Alejandra G. de Alba Campomanes +1 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

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64070

N/A

0.269DataRank · unranked

5 citations

Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek +2 more

Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100282

N/A

0.261DataRank · unranked

4 citations

Robert D. Steiner, Anne Slavotinek, Tiago Faial, Michael J. Bamshad, Jehannine Austin +4 more

Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review

European Journal of Medical Genetics(2022)10.1016/j.ejmg.2022.104496

N/A

0.241DataRank · unranked

4 citations

W. Patrick Devine, Anne Slavotinek, Balram Gangaram

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63097

N/A

0.208DataRank · unranked

3 citations

Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C. Jones, Austin Larson +17 more

AXIN1 mutations in nonsyndromic craniosynostosis

Journal of Neurosurgery Pediatrics(2024)10.3171/2024.5.peds24115

N/A

0.165DataRank · unranked

2 citations

Kshipra Hemal, Jonas A. Gustafson, Le Hao, Irene Valenzuela, Anne Slavotinek +5 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

0.104DataRank · unranked

1 citations

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

Third case of Bardet‐Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74

Clinical Genetics(2021)10.1111/cge.13962

N/A

0DataRank · unranked

13 citations

Uğur Hodoğlugil, Tiffany Yip, Anne Slavotinek, Anne H. Mardy

The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research

Genetics in Medicine(2021)10.1016/j.gim.2021.09.021

N/A

0DataRank · unranked

9 citations

Simon Outram, Julia E. H. Brown, Astrid N. Zamora, Barbara A. Koenig, Neil Risch +4 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

medRxiv(2021)10.1101/2021.09.06.21262776

N/A

0DataRank · unranked

8 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +64 more

Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods

Genetics in Medicine(2022)10.1016/j.gim.2022.06.004

N/A

0DataRank · unranked

18 citations

Zach Baldwin, Priyanka Murali, Akila Pai, Kathleen F. Mittendorf, Heidi V. Russell +10 more

Late‐onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62761

N/A

0DataRank · unranked

2 citations

Anne Slavotinek, Thomas N. Darling, Stanley Lipkowitz, Frederic G. Barr, Pamela N. Münster +3 more

Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.02.013

N/A

0DataRank · unranked

26 citations

Susan Rojahn, Karen Ouyang, Curtis Kautzer, Michael Kennemer, Daniel Pineda‐Alvarez +11 more

Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum

Genetics in Medicine(2023)10.1016/j.gim.2023.100863

N/A

0DataRank · unranked

6 citations

Ashish R. Deshwar, Harsha Murthy, Daniela D’Agostino, Lucie Dupuis, Balram Gangaram +19 more

Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study

Genetics in Medicine(2023)10.1016/j.gim.2023.100899

N/A

0DataRank · unranked

0 citations

Hannah Prasad, Simon Outram, Sarah Scollon, Shannon Rego, Tiffany Yip +10 more

Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry

medRxiv(2023)10.1101/2023.05.19.23290066

N/A

0DataRank · unranked

0 citations

Nuriye Sahin‐Hodoglugil, Uğur Hodoğlugil, Mark Kvale, Pierre‐Marie Martin, Jessica Van Ziffle +8 more

Genetic ancestry and diagnostic yield of exome sequencing in a diverse population

npj Genomic Medicine(2024)10.1038/s41525-023-00385-6

N/A

0DataRank · unranked

19 citations

Nuriye Sahin‐Hodoglugil, Uğur Hodoğlugil, Mark Kvale, Pierre‐Marie Martin, Jessica Van Ziffle +8 more

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100286

N/A

0DataRank · unranked

15 citations

Michelle L. Thompson, Lisa J. Martin, Bruce D. Gelb, Anne Slavotinek

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63559

N/A

0DataRank · unranked

7 citations

Angela Morgan, Meghan N. Bartos, Katelyn Beatty, Benjamin Cogné, Dominique Braun +27 more

Satisfaction with mode of delivery of genomic sequencing results in a diverse national sample of research participants through the Clinical Sequencing Evidence-Generating Research Consortium

Genetics in Medicine(2024)10.1016/j.gim.2024.101176

N/A

0DataRank · unranked

3 citations

Jill O. Robinson, Eunji Jo, Sabrina A. Suckiel, Laura M. Amendola, Ann Katherine M. Foreman +5 more

Biallelic OTUD6B variants associated with a Kabuki syndrome‐like disorder in three siblings: A clinical report and literature review

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63567

N/A

0DataRank · unranked

0 citations

Virgina Lee, Anne Slavotinek, Balram Gangaram

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

UNC Libraries(2024)10.17615/2254-fj45

N/A

0DataRank · unranked

0 citations

Rolph Pfundt, Birgit Elisabeth Kristiansen, Mary J. Green, Sally Ann Lynch, Amanda Openshaw +67 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

Automated syndrome diagnosis by three-dimensional facial imaging

Genetics in Medicine(2020)10.1038/s41436-020-0845-y

N/A

0DataRank · unranked

106 citations

J. David Aponte, David C. Katz, Jordan J. Bannister, Sheri L. Riccardi, Nick Mahasuwan +33 more

A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression

Frontiers in Cell and Developmental Biology(2025)10.3389/fcell.2025.1522094

N/A

0DataRank · unranked

1 citations

Stephanie Htun, Manoj K. Pandey, Yihui Sun, Albert Frank Magnusen, Ehsan Ullah +9 more

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

Clinical Genetics(2025)10.1111/cge.14768

N/A

0DataRank · unranked

0 citations

Nawaal Shinwari, Aleksey Porollo, Eniolami O. Dosunmu, Ehsan Ullah, Bin Guan +7 more

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER

medRxiv(2025)10.64898/2025.12.11.25341975

N/A

0DataRank · unranked

0 citations

Thomas Besnard, Florence Desprez, Benjamin Cogné, Laura Do Souto Ferreira, Virginie Vignard +43 more

Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results

Genetics in Medicine(2025)10.1016/j.gim.2025.101363

N/A

0DataRank · unranked

3 citations

Sara Ackerman, Kyle B. Brothers, Kelly M. East, Ann Katherine M. Foreman, Lucia A. Hindorff +14 more

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

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Human Molecular Genetics(2020)10.1093/hmg/ddaa108

N/A

0DataRank · unranked

37 citations

Doriana Misceo, Stephanie Htun, Linda Mathisen, Eirik Frengen, Michelle Foreman +18 more

A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability

European Journal of Medical Genetics(2020)10.1016/j.ejmg.2020.103969

N/A

0DataRank · unranked

5 citations

Jessica Van Ziffle, Uğur Hodoğlugil, Anne Slavotinek, Daniah Beleford

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

UNC Libraries(2020)10.17615/0tee-nv95

N/A

0DataRank · unranked

1 citations

Christa Lese Martin, Evans, James P., Meredith Weaver, Katrina A.B. Goddard, Margaret Piper +19 more

Application of Full Genome Analysis to Diagnose Rare Monogenic Disorders

medRxiv(2020)10.1101/2020.10.22.20216531

N/A

0DataRank · unranked

9 citations

Monica Penon‐Portmann, K. Wong, Michal Levy‐Sakin, Michelle Verghese, Anne Slavotinek +15 more

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.04.01.839274

N/A

0DataRank · unranked

1 citations

Doriana Misceo, Stephanie Htun, Linda Mathisen, Eirik Frengen, Michelle Foreman +16 more

Genotype–phenotype correlations and novel molecular insights into the DHX30 -associated neurodevelopmental disorders

medRxiv(2020)10.1101/2020.09.24.20196097

N/A

0DataRank · unranked

0 citations

Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff +60 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

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

Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results

Clinical Genetics(2021)10.1111/cge.13917

N/A

0DataRank · unranked

56 citations

Catherine Gooch, Alexander Katz, Jessica Wakelee, Anne Slavotinek, Bruce R. Korf +1 more

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.007

N/A

0DataRank · unranked

40 citations

Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha +77 more

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00900-3

N/A

0DataRank · unranked

31 citations

Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff +60 more

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Genetics in Medicine(2021)10.1038/s41436-021-01200-2

N/A

0DataRank · unranked

26 citations

Marvid S. Duarte Moreno, Jean‐François Benoist, Manfred Boehm, E. Bourrat, Aline Cano +28 more

Preference for secondary findings in prenatal and pediatric exome sequencing

Prenatal Diagnosis(2021)10.1002/pd.5973

N/A

0DataRank · unranked

17 citations

Teresa N. Sparks, Billie R. Lianoglou, Flavia Chen, Sarah L. Downum, Sachi Patel +7 more

Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A

European Journal of Medical Genetics(2021)10.1016/j.ejmg.2021.104407

N/A

0DataRank · unranked

16 citations

Mathilde Lefebvre, Anne‐Claire Bréhin, Christel Thauvin, Sophie Patrier, Teresa N. Sparks +4 more

Anne Slavotinek

Indexed papers

Top data-sharing exemplar

Papers