Shimul Chowdhury

3.7k citations

32 papers · 1.0k indexed · 1 hit paper · h-index 16

Co-authors: David Dimmock Stephen F. Kingsmore Shareef Nahas Nathaly M. Sweeney Michelle M. Clark Charlotte A. Hobbs Lauge Farnaes Yan Ding
Topics: Genomics and Rare Diseases (14 papers)Genetics and Neurodevelopmental Disorders (9 papers)Genomic variations and chromosomal abnormalities (6 papers)
Cited by: Genetics Clinical Biochemistry Cancer Research
Journals: SHILAP Revista de lepidopterologíaBlood PLoS ONE
Partner nations: United States Canada United Kingdom

In The Last Decade

Shimul Chowdhury

32 papers receiving 998 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.

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

2018 280 citations Lauge Farnaes, Amber Hildreth et al. npj Genomic Medicine profile →

Peers

Countries citing papers authored by Shimul Chowdhury

Since Specialization

Citations

This map shows the geographic impact of Shimul Chowdhury'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 Shimul Chowdhury with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Shimul Chowdhury more than expected).

Fields of papers citing papers by Shimul Chowdhury

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Shimul Chowdhury. 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 Shimul Chowdhury. The network helps show where Shimul Chowdhury may publish in the future.

Co-authorship network of co-authors of Shimul Chowdhury

This figure shows the co-authorship network connecting the top 25 collaborators of Shimul Chowdhury. A scholar is included among the top collaborators of Shimul Chowdhury 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 Shimul Chowdhury. Shimul Chowdhury is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work	Indexed citations
1	Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing 2023 ·JAMA Network Open ·Mallory Owen,Meredith S. Wright,Serge Batalov,Yong-Hyun Kwon,Yan Ding,Kevin Chau,Shimul Chowdhury,Nathaly M. Sweeney,Elizabeth Kiernan,Andrew Richardson,(unknown),Rebecca J. Baer,Gretchen Bandoli,Joseph G. Gleeson,Matthew N. Bainbridge,Christina Chambers,Stephen F. Kingsmore	22
2	Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations 2023 ·Genetics in Medicine ·Kiely N. James,Shimul Chowdhury,Yan Ding,Serge Batalov,Kelly Watkins,(unknown),(unknown),Katarzyna A. Ellsworth,Stephen F. Kingsmore,Lucia Guidugli	1
3	Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype 2023 ·SHILAP Revista de lepidopterología ·Ana Rodríguez,(unknown),Parul Jayakar,Meredith S. Wright,Shimul Chowdhury,Daria Salyakina	4
4	Artificial Intelligence in the Genetic Diagnosis of Rare Disease 2023 ·Clinics in Laboratory Medicine ·Kiely N. James,Sujal Phadke,Terence C. Wong,Shimul Chowdhury	3
5	Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics 2022 ·Pediatric Research ·(unknown),(unknown),Dawn Bentley,Christine Miller,Rong Mao,(unknown),Pınar Bayrak‐Toydemir,Tatiana Tvrdik,Lincoln Nadauld,Steven B. Bleyl,Shimul Chowdhury,Betsy Ostrander,(unknown),Nicola Longo,Martin Tristani‐Firouzi,Charlotte A. Hobbs,Joshua L. Bonkowsky,Luca Brunelli	10
6	Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency 2021 ·Molecular Case Studies ·Mallory Owen,Jerica Lenberg,Annette Feigenbaum,Jeffrey J. Gold,Kevin Chau,(unknown),Yan Ding,Shimul Chowdhury,Stephen F. Kingsmore	4
7	Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease 2021 ·npj Genomic Medicine ·Nathaly M. Sweeney,Shareef Nahas,Shimul Chowdhury,Serge Batalov,Michelle M. Clark,Sara Caylor,Julie A. Cakici,John J. Nigro,Yan Ding,Narayanan Veeraraghavan,Charlotte A. Hobbs,David Dimmock,Stephen F. Kingsmore	49
8	Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease 2020 ·npj Genomic Medicine ·Christian R. Marshall,Shimul Chowdhury,Ryan J. Taft,Matthew S. Lebo,Jillian G. Buchan,Steven M. Harrison,Ross Rowsey,Eric W. Klee,Pengfei Liu,Elizabeth A. Worthey,Vaidehi Jobanputra,David Dimmock,Hutton M. Kearney,David Bick,Shashikant Kulkarni,Stacie L. Taylor,John W. Belmont,Dimitri J. Stavropoulos,Niall J. Lennon	85
9	Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis 2020 ·Molecular Case Studies ·(unknown),(unknown),Kiely N. James,Shimul Chowdhury,Surender Rajasekaran,Jeremy W. Prokop,Caleb Bupp	7
10	Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation 2020 ·BMC Neurology ·(unknown),Serena Galosi,Lisa Salz,Terence C. Wong,(unknown),Shivarajan Amudhavalli,Rose Gelineau‐Morel,Shimul Chowdhury,Jennifer Friedman	6
11	Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses 2020 ·npj Genomic Medicine ·Kiely N. James,Michelle M. Clark,(unknown),Cyrielle Kint,Peter Schols,Serge Batalov,Benjamin Briggs,Narayanan Veeraraghavan,Shimul Chowdhury,Stephen F. Kingsmore	32
12	Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system 2020 ·Molecular Case Studies ·Stephen F. Kingsmore,Nanda Ramchandar,Kiely N. James,Anna‐Kaisa Niemi,Annette Feigenbaum,Yan Ding,Wendy Benson,Charlotte A. Hobbs,Shareef Nahas,Shimul Chowdhury,David Dimmock	12
13	Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage 2018 ·Molecular Case Studies ·Benjamin Briggs,Kiely N. James,Shimul Chowdhury,Courtney D. Thornburg,Lauge Farnaes,David Dimmock,Stephen F. Kingsmore,(unknown)	6
14	Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalizationbreakdown → 2018 ·npj Genomic Medicine ·Lauge Farnaes,Amber Hildreth,Nathaly M. Sweeney,Michelle M. Clark,Shimul Chowdhury,Shareef Nahas,Julie A. Cakici,Wendy Benson,Robert H. Kaplan,Richard Kronick,Matthew N. Bainbridge,Jennifer Friedman,Jeffrey J. Gold,Yan Ding,Narayanan Veeraraghavan,David Dimmock,Stephen F. Kingsmore	280
15	Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome 2018 ·Pediatric Neurology ·Dillon Y. Chen,Shimul Chowdhury,Lauge Farnaes,Jennifer Friedman,Jose Honold,David Dimmock,(unknown)	12
16	The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections 2018 ·Molecular Case Studies ·Nathaly M. Sweeney,Shareef Nahas,Shimul Chowdhury,Miguel Del Campo,Marilyn C. Jones,David Dimmock,Stephen F. Kingsmore,(unknown)	22
17	Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann–Pick type C1 disease in a 7-week-old male with cholestasis 2017 ·Molecular Case Studies ·Amber Hildreth,Kristen Wigby,Shimul Chowdhury,Shareef Nahas,Jaime Barea,(unknown),Serge Batalov,David Dimmock,Stephen F. Kingsmore,(unknown)	9
18	Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome 2017 ·Molecular Case Studies ·Lauge Farnaes,Shareef Nahas,Shimul Chowdhury,J.G. Nelson,Serge Batalov,David Dimmock,Stephen F. Kingsmore,(unknown)	16
19	Maternal DNA hypomethylation and congenital heart defects 2011 ·Birth Defects Research Part A Clinical and Molecular Teratology ·Shimul Chowdhury,Mario A. Cleves,Stewart L. MacLeod,S. Jill James,Weizhi Zhao,Charlotte A. Hobbs	37
20	Maternal Genome-Wide DNA Methylation Patterns and Congenital Heart Defects 2011 ·PLoS ONE ·Shimul Chowdhury,Stephen W. Erickson,Stewart L. MacLeod,Mario A. Cleves,Ping Hu,Mohammad A. Karim,Charlotte A. Hobbs	57

About Shimul Chowdhury

Shimul Chowdhury is a scholar working on Genetics, Pathology and Forensic Medicine and Rheumatology, having authored 32 papers that have together received 1.0k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (14 papers), Genetics and Neurodevelopmental Disorders (9 papers) and Genomic variations and chromosomal abnormalities (6 papers). The work is most often cited by research in Genetics (660 citations), Clinical Biochemistry (67 citations) and Cancer Research (121 citations). Shimul Chowdhury has collaborated with scholars based in United States, Canada and United Kingdom. Frequent co-authors include David Dimmock, Stephen F. Kingsmore, Shareef Nahas, Nathaly M. Sweeney, Michelle M. Clark, Charlotte A. Hobbs, Lauge Farnaes, Yan Ding, Narayanan Veeraraghavan and Matthew N. Bainbridge. Their work appears in journals such as SHILAP Revista de lepidopterología, Blood and PLoS ONE.

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.

Explore authors with similar magnitude of impact