Marco Tartaglia

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

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 →

Papers

Driven by 8 papers. Top paper: “Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome”.

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

Human Genetics(2002)10.1007/s00439-002-0803-6

N/A

3.3DataRank · unranked

51 citations

Marco Tartaglia, Xiaoling Song, Kamini Kalidas, Ineke van der Burgt, Adam Shaw +11 more

PTPN11 Mutational Spectrum in Juvenile Myelomonocytic Leukemia and Noonan Syndrome.

Blood(2004)10.1182/blood.v104.11.3417.3417

N/A

0.104DataRank · unranked

1 citations

Charlotte M. Niemeyer, Bruce D. Gelb, Marco Tartaglia, Mignon L. Loh, Christian P. Kratz

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Neurology(2022)10.1212/wnl.0000000000201492

N/A

0DataRank · unranked

24 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +50 more

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

medRxiv(2022)10.1101/2022.04.26.22274147

N/A

0DataRank · unranked

0 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +49 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

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

ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101815

N/A

0DataRank · unranked

3 citations

Mayowa A. Osundiji, Marco Tartaglia, Bukola A. Olarewaju, Andreas Schulze, Jessie M. Cameron

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

Genetics in Medicine(2021)10.1038/s41436-021-01182-1

N/A

0DataRank · unranked

19 citations

Sairah Yousaf, James Liu, Wendy K. Chung, Lindsay Rhodes, Michael Marble +22 more