Tomasz Gambin

8.9k citations

75 papers · 1.4k indexed · h-index 22

Co-authors: Paweł Stankiewicz James R. Lupski Chad A. Shaw Anna Gambin Shalini N. Jhangiani Richard A. Gibbs Donna M. Muzny Przemysław Szafrański
Topics: Genomic variations and chromosomal abnormalities (28 papers)Genomics and Rare Diseases (16 papers)Chromosomal and Genetic Variations (15 papers)
Cited by: Genetics Molecular Biology Cancer Research
Journals: Nucleic Acids Research Bioinformatics The Journal of Clinical Endocrinology & Metabolism
Partner nations: Poland United States Türkiye

In The Last Decade

Tomasz Gambin

73 papers receiving 1.4k citations

Peers

Countries citing papers authored by Tomasz Gambin

Since Specialization

Citations

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

Fields of papers citing papers by Tomasz Gambin

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Tomasz Gambin

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

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data 2023 ·Nucleic Acids Research ·Haowei Du,(unknown),Angad Jolly,Christopher M. Grochowski,Shalini N. Jhangiani,He Li,Donna M. Muzny,Jawid M. Fatih,Gözde Yeşil,Nursel Elçioğlu,Alper Gezdirici,Dana Marafi,Davut Pehli̇van,Daniel G. Calame,Claudia M.B. Carvalho,Jennifer E. Posey,Tomasz Gambin,Zeynep Coban‐Akdemir,James R. Lupski	2
2	SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia 2023 ·Human Genetics ·Roni Zemet,Haowei Du,Tomasz Gambin,James R. Lupski,Pengfei Liu,Paweł Stankiewicz	0
3	Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant 2022 ·European Journal of Human Genetics ·(unknown),Justyna A. Karolak,Przemysław Szafrański,Tomasz Gambin,Admire Matsika,(unknown),Hamish S. Scott,Peer Arts,Thuong Ha,Christopher Barnett,(unknown),Paweł Stankiewicz	2
4	High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV 2022 ·Molecular Genetics & Genomic Medicine ·(unknown),Justyna A. Karolak,Przemysław Szafrański,Tomasz Gambin,(unknown),Steven H. Abman,Csaba Galambos,John P. Kinsella,Paweł Stankiewicz	4
5	Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies? 2022 ·European Journal of Medical Genetics ·(unknown),Justyna A. Karolak,Tomasz Gambin,Przemysław Szafrański,Gail Deutsch,Paweł Stankiewicz	3
6	Ultra-conserved non-coding sequences within the FOXF1 enhancer are critical for human lung development 2022 ·Genes & Diseases ·Przemysław Szafrański,Tadeusz Majewski,(unknown),Tomasz Gambin,Justyna A. Karolak,Nahir Cortes‐Santiago,Markus Brückner,Gabriele Amann,(unknown),Paweł Stankiewicz	5
7	SeQuiLa-cov: A fast and scalable library for depth of coverage calculations 2019 ·GigaScience ·(unknown),(unknown),(unknown),Tomasz Gambin	5
8	Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders 2019 ·American Journal of Respiratory and Critical Care Medicine ·Marie Vincent,Justyna A. Karolak,Gail Deutsch,Tomasz Gambin,Edwina J. Popek,Bertrand Isidor,Przemysław Szafrański,Cédric Le Caignec,Paweł Stankiewicz	44
9	Berardinelli-Seip syndrome patient with novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy 2018 ·Journal of Clinical Research in Pediatric Endocrinology ·Joanna Oświęcimska,(unknown),Tomasz Gambin,Katarzyna Ziora,(unknown),Sylwia Rzońca,D. Lys Guilbride,Shalini N. Jhangiani,(unknown),(unknown),James R. Lupski,Wojciech Wiszniewski,Paweł Gawliński	6
10	PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies 2016 ·Pediatric Neurology ·Paweł Gawliński,Renata Posmyk,Tomasz Gambin,(unknown),Monika Chorąży,Beata Nowakowska,Shalini N. Jhangiani,Donna M. Muzny,Monika Bekiesińska‐Figatowska,Jerzy Bal,Eric Boerwinkle,Richard A. Gibbs,James R. Lupski,Wojciech Wiszniewski	15
11	Two male sibs with severe micrognathia and a missense variant in MED12 2016 ·European Journal of Medical Genetics ·Trine Prescott,Mari Ann Kulseth,Ketil Heimdal,(unknown),Einar Hopp,Tomasz Gambin,Zeynep H. Coban Akdemir,Shalini N. Jhangiani,Donna M. Muzny,Richard A. Gibbs,James R. Lupski,Asbjørg Stray‐Pedersen	8
12	Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral‐facial‐digital syndrome type VI 2015 ·American Journal of Medical Genetics Part A ·Yavuz Bayram,Hatip Aydın,Tomasz Gambin,Zeynep Coban‐Akdemir,Mehmed M. Atik,Ender Karaca,Ali̇ Karaman,Davut Pehli̇van,Shalini N. Jhangiani,Richard A. Gibbs,James R. Lupski	9
13	Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death 2015 ·Molecular Genetics & Genomic Medicine ·Philip M. Boone,Bo Yuan,Shen Gu,Zhiwei Ma,Tomasz Gambin,Claudia Gonzaga‐Jauregui,Mahim Jain,(unknown),Janson J. White,Shalini N. Jhangiani,Kimberly Walker,Qiaoyan Wang,Donna M. Muzny,Richard A. Gibbs,J. Fielding Hejtmancik,James R. Lupski,Jennifer E. Posey,Richard A. Lewis	25
14	FBN1 contributing to familial congenital diaphragmatic hernia 2015 ·American Journal of Medical Genetics Part A ·T. Beck,Philippe M. Campeau,Shalini N. Jhangiani,Tomasz Gambin,Alexander Li,Reem Abo‐Zahrah,Valerie K. Jordan,Andrés Hernández,Wojciech Wiszniewski,Donna M. Muzny,Richard A. Gibbs,Eric Boerwinkle,James R. Lupski,Brendan Lee,William Reardon,Daryl A. Scott	23
15	Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome 2015 ·American Journal of Medical Genetics Part A ·Ender Karaca,Özge Özalp Yüreğir,Sevcan Tuğ Bozdoğan,Hüseyin Aslan,Davut Pehli̇van,Shalini N. Jhangiani,Zeynep Coban‐Akdemir,Tomasz Gambin,Yavuz Bayram,Mehmed M. Atik,Serkan Erdin,Donna M. Muzny,Richard A. Gibbs,James R. Lupski	38
16	Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome 2014 ·The Journal of Clinical Endocrinology & Metabolism ·Ender Karaca,Ramazan Büyükkaya,Davut Pehli̇van,Wu‐Lin Charng,Kürşat Oğuz Yaykaşlı,Yavuz Bayram,Tomasz Gambin,Marjorie Withers,Mehmed M. Atik,İlknur Arslanoğlu,Semih Bolu,Serkan Erdin,(unknown),(unknown),Shalini N. Jhangiani,Donna M. Muzny,Richard A. Gibbs,James R. Lupski	60
17	Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite 2014 ·BMC Medical Genetics ·Avinash V. Dharmadhikari,Tomasz Gambin,Przemysław Szafrański,Wenjian Cao,Frank J. Probst,Weihong Jin,Ping Fang,Krzysztof Gogolewski,Anna Gambin,(unknown),Sailaja Golla,(unknown),Bénédicte Duban‐Bedu,Bruno Delobel,Joris Andrieux,Kerstin Becker,Elke Holinski‐Feder,Sau Wai Cheung,Paweł Stankiewicz	21
18	Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases 2014 ·European Journal of Human Genetics ·(unknown),Chad A. Shaw,Amber N. Pursley,Patricia Hixson,Srirangan Sampath,Erin K. Roney,Tomasz Gambin,Sung‐Hae Kang,Weimin Bi,Seema R. Lalani,Carlos A. Bacino,James R. Lupski,Paweł Stankiewicz,Ankita Patel,(unknown)	35
19	Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability 2013 ·Journal of Applied Genetics ·Magdalena Bartnik,Beata Nowakowska,Katarzyna Derwińska,Barbara Wiśniowiecka‐Kowalnik,(unknown),(unknown),(unknown),Tomasz Gambin,Maciej Sykulski,(unknown),L Korniszewski,Anna Kutkowska‐Kaźmierczak,Jakub Klapecki,Krzysztof Szczałuba,Chad A. Shaw,Tadeusz Mazurczak,Anna Gambin,Ewa Obersztyn,Ewa Bocian,Paweł Stankiewicz	26
20	A stable density approach to probe selection for a custom aCGH design 2011 ·BioTechnologia ·Tomasz Gambin,Paweł Stankiewicz,Anna Gambin	1

About Tomasz Gambin

Tomasz Gambin is a scholar working on Genetics, Molecular Biology and Developmental Biology, having authored 75 papers that have together received 1.4k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (28 papers), Genomics and Rare Diseases (16 papers) and Chromosomal and Genetic Variations (15 papers). The work is most often cited by research in Genetics (649 citations), Molecular Biology (765 citations) and Cancer Research (111 citations). Tomasz Gambin has collaborated with scholars based in Poland, United States and Türkiye. Frequent co-authors include Paweł Stankiewicz, James R. Lupski, Chad A. Shaw, Anna Gambin, Shalini N. Jhangiani, Richard A. Gibbs, Donna M. Muzny, Przemysław Szafrański, Justyna A. Karolak and Patricia Hixson. Their work appears in journals such as Nucleic Acids Research, Bioinformatics and The Journal of Clinical Endocrinology & Metabolism.

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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