Thomas Smol

1.9k citations

34 papers · 224 indexed · h-index 10

Impact in

Genetics
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Neurogenetic and Muscular Disorders Research
Hematology

Papers in ⓘ

Genetics 13
- Genetics and Neurodevelopmental Disorders 6
- Genomics and Rare Diseases 5
Family Practice 1

Co-authors: Jamal Ghoumid (17 shared papers)Sylvie Manouvrier‐Hanu (7 shared papers)Florence Petit (8 shared papers)Frédéric Frénois (5 shared papers)Roseline Caumes (8 shared papers)Agnès Daudignon (3 shared papers)C. Thuillier (9 shared papers)Clémence Vanlerberghe (6 shared papers)
Journals: European Journal of Medical Genetics (6 papers)European Journal of Human Genetics (4 papers)Genetics in Medicine (2 papers)Leukemia Research (1 paper)Molecular Cytogenetics (1 paper)
Partner nations: France United States Germany

In The Last Decade

Thomas Smol

26 papers receiving 222 citations

Peers

Countries citing papers authored by Thomas Smol

Since Specialization

Citations

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

Fields of papers citing papers by Thomas Smol

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Thomas Smol, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Thomas Smol Line = papers co-authored together Thomas Smol links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 34 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification Journal of Human Genetics ·Lena‐Luise Becker, Hormos Salimi Dafsari, Jens Schallner, Dalia Abdin, Michael Seifert, Florence Petit, Thomas Smol, Levinus A. Bok, Lance H. Rodan, Ingrid P.C. Krapels, Stephanie Spranger, Bernhard Weschke, Katherine Johnson, Volker Straub, Angela M. Kaindl, Nataliya Di Donato, Maja von der Hagen, Sebahattin Çırak	2020	31
2	Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants European Journal of Human Genetics ·Clémence Vanlerberghe, Anne‐Sophie Jourdain, Jamal Ghoumid, Frédéric Frénois, Aurélie Mezel, Guy Vaksmann, Bruno Lenne, Bruno Delobel, Nicole Porchet, Valérie Cormier‐Daire, Thomas Smol, Fabienne Escande, Sylvie Manouvrier‐Hanu, Florence Petit	2018	29
3	HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans The American Journal of Human Genetics ·Floor A.M. Duijkers, Andrew McDonald, Georges E. Janssens, Marco Lezzerini, Aldo Jongejan, Silvana van Koningsbruggen, Wendela G. Leeuwenburgh-Pronk, Marcin W. Włodarski, Sébastien Moutton, Frédéric Tran Mau‐Them, Christel Thauvin‐Robinet, Laurence Faivre, Kristin G. Monaghan, Thomas Smol, Odile Boute‐Bénéjean, Roger L. Ladda, Susan L. Sell, Ange‐Line Bruel, Riekelt H. Houtkooper, Alyson W. MacInnes	2019	23
4	Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy Proceedings of the National Academy of Sciences ·Mario Nappi, Vincenzo Barrese, Lidia Carotenuto, Gaëtan Lesca, Audrey Labalme, Dorothée Ville, Thomas Smol, Mélanie Rama, Anne Dieux‐Coëslier, Clotilde Rivier-Ringenbach, Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michael Pusch, Francesco Miceli, Maurizio Taglialatela	2022	21
5	Combination of t(4;14), del(17p13), del(1p32) and 1q21 gain FISH probes identifies clonal heterogeneity and enhances the detection of adverse cytogenetic profiles in 233 newly diagnosed multiple myeloma Molecular Cytogenetics ·Thomas Smol, Annika Dufour, Sabine Tricot, Mathieu Wémeau, Laure Stalnikiewicz, Franck Bernardi, Christine Terré, Benoît Ducourneau, Hervé Bisiau, Agnès Daudignon	2017	13
6	Phenotypic spectrum of SHANK2-related neurodevelopmental disorder European Journal of Medical Genetics ·Roseline Caumes, Thomas Smol, C. Thuillier, Marie Balerdi, Catherine Roche‐Lestienne, Sylvie Manouvrier‐Hanu, Jamal Ghoumid	2020	12
7	Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder European Journal of Human Genetics ·Jamal Ghoumid, Florence Petit, Odile Boute‐Bénéjean, Frédéric Frénois, Maryse Cartigny, Clémence Vanlerberghe, Thomas Smol, Roseline Caumes, Nicolás de Roux, Sylvie Manouvrier‐Hanu	2017	10
8	Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene? European Journal of Medical Genetics ·Thomas Smol, Wassila Ribero-Karrouz, Patrick Edery, Daniela Gorduza, Sophie Catteau-Jonard, Sylvie Manouvrier‐Hanu, Jamal Ghoumid	2019	10
9	Quantification of EVI1 transcript levels in acute myeloid leukemia by RT-qPCR analysis: A study by the ALFA Group Leukemia Research ·Thomas Smol, Olivier Nibourel, Alice Marceau‐Renaut, Karine Celli‐Lebras, Céline Berthon, Bruno Quesnel, Nicolas Boissel, Christine Terré, Xavier Thomas, Sylvie Castaigné, Hervé Dombret, Claude Preudhomme, Aline Renneville	2015	9
10	Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication Neurogenetics ·Thomas Smol, C. Thuillier, Elise Boudry‐Labis, Anne Dieux‐Coëslier, Bénédicte Duban‐Bedu, Roseline Caumes, Sonia Bouquillon, Sylvie Manouvrier‐Hanu, Catherine Roche‐Lestienne, Jamal Ghoumid	2019	9
11	Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder Human Mutation ·Judith Halewa, Sylviane Marouillat, Manon Dixneuf, Rose‐Anne Thépault, Dévina C. Ung, Nicolas Chatron, Bénédicte Gérard, Jamal Ghoumid, Gaëtan Lesca, Marianne Till, Thomas Smol, Nathalie Couque, Lyse Ruaud, Valérie Chune, Sarah Grotto, Alain Verloès, Marie‐Laure Vuillaume, Annick Toutain, Martine Raynaud, Frédéric Laumonnier	2021	9
12	A Novel Rare Missense Variation of the NOD2 Gene: Evidences of Implication in Crohn’s Disease International Journal of Molecular Sciences ·Sara Frade-Proud’hon-Clerc, Thomas Smol, Frédéric Frénois, Olivier Sand, Emmanuel Vaillant, Véronique Dhennin, Amélie Bonnefond, Philippe Froguel, Mathurin Fuméry, Nathalie Guillon-Dellac, Corinne Gower‐Rousseau, Francis Vasseur	2019	7
13	Filamin A Mutations CHEST Journal ·V. Valentin, Jean-François Bervar, Catherine Vincent‐Delorme, Thomas Smol, L Wemeau, M Rémy, Olivier Le Rouzic, Cécile Chenivesse	2021	6
14	De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia Clinical Genetics ·Jan Hendrik Niemann, Chen Du, Susanne Morlot, Gunnar Schmidt, Bernd Auber, Beate Kaune, Gudrun Göhring, Tim Ripperger, Brigitte Schlegelberger, Winfried Hofmann, Thomas Smol, Emilie Ait‐Yahya, Anna Raimbault, Anne Lambilliotte, Florence Petit, Doris Steinemann	2020	5
15	Cytogenetic landscape in 1012 newly diagnosed chronic lymphocytic leukemia European Journal Of Haematology ·Amel Senouci, Thomas Smol, Sabine Tricot, Jania Bakala, Soraya Moulessehoul, Benoît Quilichini, Dominique Penther, Charles Herbaux, Agnès Daudignon	2019	5
16	Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy Reproductive BioMedicine Online ·Angèle Boursier, Augustin Boudry, Valérie Mitchell, Anne Loyens, Nathalie Rives, Alexandre Moerman, Lucie Thomas, Estelle Escudier, Aminata Touré, Marjorie Whitfield, Charles Coutton, Guillaume Martinez, Pierre F. Ray, Zine‐Eddine Kherraf, Stéphane Viville, Marie Legendre, Thomas Smol, Geoffroy Robin, Anne‐Laure Barbotin	2023	4
17	Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly European Journal of Human Genetics ·Eyyüp Üçtepe, Barbara Vona, Fatma Nisa Esen, F.M. Sonmez, Thomas Smol, Sait Tümer, Hanifenur Mancılar, Dilan Ece Geylan Durgun, Odile Boute, Meysam Moghbeli, Ehsan Ghayoor Karimiani, Narges Hashemi, Behnoosh Bakhshoodeh, Hyung Goo Kim, Reza Maroofian, Ahmet Yeşilyurt	2023	4
18	Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella Journal of Assisted Reproduction and Genetics ·Anne‐Laure Barbotin, Angèle Boursier, Anne‐Sophie Jourdain, Alexandre Moerman, Baptiste Rabat, Mariam Chehimi, C. Thuillier, Jamal Ghoumid, Thomas Smol	2024	3
19	Fraser syndrome without cryptophthalmos: Two cases European Journal of Medical Genetics ·Simon Boussion, Stanislas Lyonnet, B. van der Zwaag, Maartje J. Vogel, Thomas Smol, Aurélie Mezel, Sylvie Manouvrier‐Hanu, Catherine Vincent‐Delorme, Clémence Vanlerberghe	2020	3
20	PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature European Journal of Medical Genetics ·Fiona Leduc, Thomas Smol, B. Catteau, Odile Boute, Florence Petit	2024	2

About Thomas Smol

Thomas Smol is a scholar working on Genetics, Family Practice, Molecular Biology, Clinical Biochemistry and Genetics, having authored 34 papers that have together received 224 indexed citations. Recurring topics across this work include RNA modifications and cancer (7 papers), Genetics and Neurodevelopmental Disorders (6 papers), Genomics and Rare Diseases (5 papers), Congenital heart defects research (4 papers), RNA Research and Splicing (3 papers), Genetic Neurodegenerative Diseases (3 papers), RNA and protein synthesis mechanisms (3 papers) and Wnt/β-catenin signaling in development and cancer (2 papers). The work is most often cited by research in Genetics (36 citations), Genetics (70 citations), Hematology (27 citations), Molecular Biology (129 citations) and Developmental Biology (3 citations). Thomas Smol has collaborated with scholars based in France, United States and Germany. Frequent co-authors include Jamal Ghoumid, Sylvie Manouvrier‐Hanu, Florence Petit, Frédéric Frénois, Roseline Caumes, Agnès Daudignon, C. Thuillier, Clémence Vanlerberghe, Catherine Roche‐Lestienne and Sebahattin Çırak. Their work appears in journals such as European Journal of Medical Genetics, European Journal of Human Genetics, Genetics in Medicine, Leukemia Research and Molecular Cytogenetics.

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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