Beryl B. Cummings

35.7k citations

18 papers · 1.6k indexed · 2 hit papers · h-index 12

Co-authors: Daniel G. MacArthur Konrad J. Karczewski Mark J. Daly Aviv Regev Ben Weisburd Tuuli Lappalainen Stephane E. Castel Matthew Solomonson
Topics: Genomics and Rare Diseases (6 papers)RNA modifications and cancer (5 papers)RNA Research and Splicing (5 papers)
Cited by: Genetics Cancer Research Molecular Biology
Journals: Nature Science Nucleic Acids Research
Partner nations: United States Australia United Kingdom

In The Last Decade

Beryl B. Cummings

18 papers receiving 1.6k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Landscape of X chromosome inactivation across human tissues

2017 665 citations Taru Tukiainen, Alexandra–Chloé Villani et al. Nature profile →
The ExAC browser: displaying reference data information from over 60 000 exomes

2016 452 citations Konrad J. Karczewski, Ben Weisburd et al. Nucleic Acids Research profile →

Peers

Countries citing papers authored by Beryl B. Cummings

Since Specialization

Citations

This map shows the geographic impact of Beryl B. Cummings's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Beryl B. Cummings with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Beryl B. Cummings more than expected).

Fields of papers citing papers by Beryl B. Cummings

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Beryl B. Cummings. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Beryl B. Cummings. The network helps show where Beryl B. Cummings may publish in the future.

Co-authorship network of co-authors of Beryl B. Cummings

This figure shows the co-authorship network connecting the top 25 collaborators of Beryl B. Cummings. A scholar is included among the top collaborators of Beryl B. Cummings based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Beryl B. Cummings. Beryl B. Cummings is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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18 of 18 papers shown

#	Work	Indexed citations
1	Relationship of Fat Mass Ratio, a Biomarker for Lipodystrophy, With Cardiometabolic Traits 2024 ·Diabetes ·Saaket Agrawal,Jian’an Luan,Beryl B. Cummings,Ethan J. Weiss,Nicholas J. Wareham,Amit V. Khera	10
2	A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes 2023 ·American Journal of Medical Genetics Part A ·(unknown),John Christodoulou,David R. Thorburn,Jeremy L. Freeman,Andrew J. Kornberg,Simone Mandelstam,Alison G. Compton,Beryl B. Cummings,Lynn Pais,Joy Yaplito‐Lee,Susan M. White	3
3	Genetic reduction of muscle glycogen is well tolerated in UK Biobank participants 2022 ·Molecular Genetics and Metabolism ·Julian R. Homburger,Beryl B. Cummings,Julie C. Ullman,(unknown),Eric M. Green,Robert Graham	2
4	Evaluating drug targets through human loss-of-function genetic variation 2020 ·Figshare ·Eric Vallabh Minikel,Konrad J. Karczewski,(unknown),Beryl B. Cummings,Nicola Whiffin,Daniel R. Rhodes,Jessica Alföldi,Richard C. Trembath,David A. van Heel,Mark J. Daly,(unknown),(unknown),(unknown),(unknown)	92
5	Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy 2020 ·European Journal of Human Genetics ·Samantha J. Bryen,Emily C. Oates,Frances J. Evesson,(unknown),Leigh B. Waddell,Himanshu Joshi,Monique M. Ryan,Beryl B. Cummings,Catriona McLean,Daniel G. MacArthur,Andrew J. Kornberg,Sandra T. Cooper	7
6	Genetic regulatory variation in populations informs transcriptome analysis in rare disease 2019 ·Science ·Pejman Mohammadi,Stephane E. Castel,Beryl B. Cummings,Jonah Einson,(unknown),Paul Hoffman,Sandra Donkervoort,Zhuoxun Jiang,Payam Mohassel,A. Reghan Foley,Heather E. Wheeler,Hae Kyung Im,Carsten G. Bönnemann,Daniel G. MacArthur,Tuuli Lappalainen	64
7	Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly 2019 ·The American Journal of Human Genetics ·Samantha J. Bryen,Himanshu Joshi,Frances J. Evesson,Cyrille Girard,Roula Ghaoui,Leigh B. Waddell,Alison C. Testa,Beryl B. Cummings,Susan Arbuckle,Nicole Graf,Richard Webster,Daniel G. MacArthur,Nigel G. Laing,Mark R. Davis,Reinhard Lührmann,Sandra T. Cooper	20
8	Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin 2019 ·European Journal of Human Genetics ·Lisa G. Riley,Leigh B. Waddell,Roula Ghaoui,Frances J. Evesson,Beryl B. Cummings,Samantha J. Bryen,Himanshu Joshi,Min‐Xia Wang,Susan Brammah,Leonard Kritharides,Alastair Corbett,Daniel G. MacArthur,Sandra T. Cooper	14
9	A quantitative framework for characterizing the evolutionary history of mammalian gene expression 2018 ·Genome Research ·Jenny Chen,Ross Swofford,Jeremy Johnson,Beryl B. Cummings,Noga Rogel,Kerstin Lindblad‐Toh,Wilfried Haerty,Federica Di Palma,Aviv Regev	66
10	Effects of 3D culturing conditions on the transcriptomic profile of stem-cell-derived neurons 2018 ·Nature Biomedical Engineering ·Halil Tekin,Sean Simmons,Beryl B. Cummings,Linyi Gao,Xian Adiconis,Cynthia C. Hession,Ayan Ghoshal,Danielle Dionne,Sourav Choudhury,Volkan Yesilyurt,Neville E. Sanjana,Xi Shi,Congyi Lu,Matthias Heidenreich,Jen Q. Pan,Joshua Z. Levin,Feng Zhang	72
11	Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child 2018 ·Molecular Genetics and Metabolism ·Rocío Rius,Lisa G. Riley,Yiran Guo,Minal Menezes,Alison G. Compton,Nicole J. Van Bergen,Velimir Gayevskiy,Mark J. Cowley,Beryl B. Cummings,(unknown),Carolyn Ellaway,David R. Thorburn,Håkon Håkonarson,John Christodoulou	12
12	Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome 2017 ·Human Mutation ·Colleen M. Carlston,Anne O’Donnell‐Luria,Hunter R. Underhill,Beryl B. Cummings,Ben Weisburd,Eric Vallabh Minikel,Daniel P. Birnbaum,Tatiana Tvrdik,Daniel G. MacArthur,Rong Mao	42
13	Landscape of X chromosome inactivation across human tissuesbreakdown → 2017 ·Nature ·Taru Tukiainen,Alexandra–Chloé Villani,Angela Yen,Manuel A. Rivas,Jamie L. Marshall,Rahul Satija,Matthew Aguirre,Laura D. Gauthier,Mark Fleharty,Andrew Kirby,Beryl B. Cummings,Stephane E. Castel,Konrad J. Karczewski,François Aguet,Andrea Byrnes,Tuuli Lappalainen,Aviv Regev,Kristin Ardlie,Nir Hacohen,Daniel G. MacArthur	665
14	Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy? 2017 ·Neuromuscular Disorders ·Emily C. Oates,Kyle S. Yau,(unknown),John E. Smith,Beryl B. Cummings,Michelle A. Farrar,Sandra T. Cooper,Monkol Lek,Eric P. Hoffman,Volker Straub,Ana Ferreiro,Bjarne Udd,Alan H. Beggs,Carsten G. Bönnemann,Kathryn N. North,Daniel G. MacArthur,Henk Granzier,Francesco Muntoni,Mark R. Davis,Nigel G. Laing	1
15	Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant 2017 ·Human Mutation ·Sarah A. Sandaradura,Adam Bournazos,Amali Mallawaarachchi,Beryl B. Cummings,Leigh B. Waddell,Kristi Jones,Christopher Troedson,(unknown),Benjamin M. Nash,Gregory B. Peters,Elizabeth M. Algar,Daniel G. MacArthur,Kathryn N. North,Susan Brammah,Amanda Charlton,Nigel G. Laing,Meredith Wilson,Mark R. Davis,Sandra T. Cooper	46
16	A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy 2017 ·Neuromuscular Disorders ·A. Reghan Foley,Sandra Donkervoort,Véronique Bolduc,Yali Hu,Beryl B. Cummings,Monkol Lek,Andrea Sarkozy,C. Jimenez‐Mallebrera,Russell J. Butterfield,Shireen R. Lamandé,Janbernd Kirschner,Valérie Allamand,Tanya Stojkovic,Susana Quijano‐Roy,Francesca Gualandi,Alessandra Ferlini,Enrico Bertini,Daniel G. MacArthur,Francesco Muntoni,(unknown)	1
17	The ExAC browser: displaying reference data information from over 60 000 exomesbreakdown → 2016 ·Nucleic Acids Research ·Konrad J. Karczewski,Ben Weisburd,Brett Thomas,Matthew Solomonson,Douglas M. Ruderfer,David Kavanagh,Tymor Hamamsy,Monkol Lek,Kaitlin E. Samocha,Beryl B. Cummings,Daniel Birnbaum,Mark J. Daly,Daniel G. MacArthur	452
18	RNA seq analysis for the diagnosis of muscular dystrophy 2015 ·Annals of Clinical and Translational Neurology ·Hernán Gonorazky,Minggao Liang,Beryl B. Cummings,Monkol Lek,Johann Micallef,Cynthia Hawkins,Raveen Basran,Ronald D. Cohn,Michael D. Wilson,Daniel G. MacArthur,Christian R. Marshall,Peter N. Ray,James J. Dowling	59

About Beryl B. Cummings

Beryl B. Cummings is a scholar working on Clinical Biochemistry, Genetics and Molecular Biology, having authored 18 papers that have together received 1.6k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (6 papers), RNA modifications and cancer (5 papers) and RNA Research and Splicing (5 papers). The work is most often cited by research in Genetics (694 citations), Cancer Research (191 citations) and Molecular Biology (862 citations). Beryl B. Cummings has collaborated with scholars based in United States, Australia and United Kingdom. Frequent co-authors include Daniel G. MacArthur, Konrad J. Karczewski, Mark J. Daly, Aviv Regev, Ben Weisburd, Tuuli Lappalainen, Stephane E. Castel, Matthew Solomonson, Daniel Birnbaum and Brett Thomas. Their work appears in journals such as Nature, Science and Nucleic Acids Research.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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