Ana Töpf

NIHR Newcastle Biomedical Research Centre

Also affiliated with Newcastle University

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

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

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 20 papers. Top paper: “The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases”.

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Human Mutation(2022)10.1002/humu.24353

N/A

1.3DataRank · unranked

63 citations

Davide Piscia, Leslie Matalonga, Alberto Corvò, Carles García, Marcos Fernández-Callejo +46 more

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.002

N/A

0DataRank · unranked

46 citations

Carl Elias Kutzner, Ying Hu, Xavière Lornage, John Rendu, Tanya Stojkovic +42 more

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

Acta Neuropathologica(2020)10.1007/s00401-019-02117-6

N/A

0DataRank · unranked

39 citations

Macarena Cabrera‐Serrano, Katherine Johnson, Ashutosh Pandey, Atsuko Ito, Eloy Rivas +22 more

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Nature Medicine(2021)10.1038/s41591-021-01346-1

N/A

0DataRank · unranked

153 citations

Sandra Donkervoort, Museer A. Lone, Matthew Nalls, Kenneth Gable, Sita D. Gupta +41 more

A form of muscular dystrophy associated with pathogenic variants in JAG2

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.020

N/A

0DataRank · unranked

41 citations

Alison M. Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Dorianmarie Vargas‐Franco +53 more

Molecular pathophysiology of human MICU1 deficiency

Neuropathology and Applied Neurobiology(2021)10.1111/nan.12694

N/A

0DataRank · unranked

33 citations

Miriam Elbracht, Artur Czech, Martin Häusler, Vietxuan Phan, Ana Töpf +13 more

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

medRxiv(2021)10.1101/2021.04.08.21254942

N/A

0DataRank · unranked

2 citations

Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin J. O’Donovan, Maura Coughlin +53 more

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Nature Communications(2022)10.1038/s41467-022-30015-1

N/A

0DataRank · unranked

44 citations

Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin +53 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

medRxiv(2023)10.1101/2023.10.05.23296595

N/A

0DataRank · unranked

1 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0DataRank · unranked

189 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Nature Genetics(2024)10.1038/s41588-023-01651-0

N/A

0DataRank · unranked

33 citations

Dan Cox, Irina Zaharieva, Valeria Di Leo, J. Sarparanta, Per Harald Jonson +80 more

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.008

N/A

0DataRank · unranked

24 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes

Journal of Clinical Investigation(2024)10.1172/jci179559

N/A

0DataRank · unranked

19 citations

Rotem Orbach, Irina Zaharieva, Ana Töpf, Sandra Donkervoort, Pinki Munot +20 more

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

Genetics in Medicine(2024)10.1016/j.gim.2024.101336

N/A

0DataRank · unranked

7 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 more

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features

medRxiv(2024)10.1101/2024.09.23.24313872

N/A

0DataRank · unranked

3 citations

Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen +33 more

Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy

Muscle & Nerve(2024)10.1002/mus.28214

N/A

0DataRank · unranked

0 citations

Christine C. Bruels, Audrey L. Daugherty, Elicia Estrella, Seth A. Stafki, Safoora B. Syeda +15 more

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy

Genetics in Medicine(2025)10.1016/j.gim.2025.101399

N/A

0DataRank · unranked

5 citations

Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen +32 more

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

Journal of Neuromuscular Diseases(2020)10.3233/jnd-200510

N/A

0DataRank · unranked

19 citations

Serdal Güngör, Lena Zeltner, Sarah Wiethoff, Lüdger Schöls, Ece Sönmezler +16 more

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

Genetics in Medicine(2025)10.1016/j.gim.2025.101513

N/A

0DataRank · unranked

1 citations

Ingrid M. Jazet, Suzanne Yzer, Jeroen Pas, Serwet Demirdas, Elisabeth F. C. van Rossum +39 more