Anna Lehman

1.1k citations

26 papers · 762 · 1 hit paper · h-index 14

Impact in

Genetics top 10%
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
Molecular Biology
- RNA modifications and cancer
- RNA Research and Splicing

Papers in

Genetics 17
- Genomics and Rare Diseases 13
- Genetics and Neurodevelopmental Disorders 11
- Genomic variations and chromosomal abnormalities 3
Cell Biology 3
- Endoplasmic Reticulum Stress and Disease 2

Co-authors: Karine Morcel (1 shared paper)Laurent Pasquier (1 shared paper)Claire Josse (1 shared paper)Aimé Zola Lumaka (1 shared paper)Laura T. Arbour (2 shared papers)Véronique David (1 shared paper)Adeline Jacquinet (1 shared paper)Maja Tarailo‐Graovac (2 shared papers)
Journals: The American Journal of Human Genetics (4 papers)Genetics in Medicine (2 papers)European Journal of Human Genetics (2 papers)npj Genomic Medicine (2 papers)Circulation Genomic and Precision Medicine (1 paper)
Partner nations: Canada United States France

In The Last Decade

Anna Lehman

25 papers receiving 747 citations

Anna Lehman's Hit Papers

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies 2017 · 362 citations

What are hit papers?

Paper score: A paper's citations measured against the top-1% bar of its own field and year: the square root of citations ÷ bar, so 1 means right at the bar and 2 means four times its citations. The bar blends the citation counts that enter the top 1% of the paper's subfields in its year (weighted 89.5%), of those subfields over all years (0.5%) and of its year across all fields (10%); a subfield and year with fewer than 400 papers takes its year's bar. Papers from 2026 are not scored yet: in an unfinished year, when a paper appeared matters more than how it is cited.

Hit paper: A paper cited at least 1.5× the top-1% bar of its field and year: a paper score of at least √1.5.

2017 The American Journal of Human Genetics

Peers

Countries citing papers authored by Anna Lehman

Since Specialization

Citations

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

Fields of papers citing papers by Anna Lehman

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Anna Lehman, 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 Anna Lehman Line = papers co-authored together Anna Lehman 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 26 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies The American Journal of Human Genetics ·Fadi F. Hamdan, Candace T. Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre Dionne Laporte, Christina Nassif, Ousmane Diallo Hit paper breakdown →	2017	362
2	Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders Genome Medicine ·Madelyn A. Gillentine, Tian-Yun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries	2021	69
3	NBEA: Developmental disease gene with early generalized epilepsy phenotypes Annals of Neurology ·Maureen Mulhern, Constance T. R. M. Stumpel, Nicholas Stong, Han G. Brunner, Louise Bier, Natalie C. Lippa, James John Riviello, Rob P.W. Rouhl	2018	42
4	Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability The American Journal of Human Genetics ·Benjamin Cognè, Sophie Ehresmann, Éliane Beauregard‐Lacroix, Justine Rousseau, Thomas Besnard, Thomas Xavier Garcia, Slavé Petrovski, Shiri Avni	2019	41
5	GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome Clinical Genetics ·Adeline Jacquinet, Bouchra Boujemla, Corinne Fasquelle, Jérôme Thiry, Claire Josse, Aimé Zola Lumaka, Elise Brischoux‐Boucher, Christele Dubourg	2020	39
6	KDM5A mutations identified in autism spectrum disorder using forward genetics eLife ·Lauretta El Hayek, İslam Oğuz Tuncay, Nadine Nijem, Jamie L. Russell, Sara M. Ludwig, Kiran J. Kaur, Xiaohong Li, Priscilla D. Anderton	2020	39
7	Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism The American Journal of Human Genetics ·Maya Chopra, Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha, Anupriya Kaur, Parneet Kaur	2021	20
8	Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada Genetics in Medicine ·Matthew Osmond, Taila Hartley, David Alexandre Dyment, Kristin D. Kernohan, Michael Brudno, Orion J. Buske, Allan Micheil Innes, Kym M. Boycott	2021	18
9	De novo mutations in theSETnuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability Human Mutation ·Servi J.C. Stevens, Vyne van der Schoot, Magalie S. Leduc, Tuula Rinne, Seema R. Lalani, Marjan M. Weiss, Johanna M. van Hagen, Augusta M.A. Lachmeijer	2018	17
10	Rare disorders have many faces: in silico characterization of rare disorder spectrum Orphanet Journal of Rare Diseases ·S. Frederiksen, Vladimir Avramović, Tatiana Maroilley, Anna Lehman, Laura T. Arbour, Maja Tarailo‐Graovac	2022	17
11	JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome Genetics in Medicine ·Eline A. Verberne, Shuxiang Goh, Jade England, Manon van Ginkel, Louise Rafael‐Croes, Saskia M. Maas, Abeltje M. Polstra, Yuri A. Zárate	2020	16
12	Variant Reinterpretation in Survivors of Cardiac Arrest With Preserved Ejection Fraction (the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry) by Clinicians and Clinical Commercial Laboratories Circulation Genomic and Precision Medicine ·Brianna Davies, Kirsten L. Bartels, Julie Hathaway, Fang Xu, Jason D. Roberts, Rafik Tadros, Martin S. Green, Jeff S. Healey	2021	16
13	Genetic testing in monogenic early-onset atrial fibrillation European Journal of Human Genetics ·Brandon Chalazan, E. Freeth, Arezoo Mohajeri, Matthew T. Bennett, Jagdeep Singh Walia, Laura F. Halperin, Thomas M. Roston, Julieta Lazarte	2023	15
14	Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation The American Journal of Human Genetics ·D.L. Polla, Andrew C. Edmondson, Sandrine Duvet, Michael March, Ana Berta Sousa, Anna Lehman, Dmitriy Niyazov, Fleur van Dijk	2021	15
15	Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment npj Genomic Medicine ·Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara, Jennifer F. Lange, Anna Lehman	2023	9
16	Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants European Journal of Human Genetics ·Sandra Whalen, Marie A Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot‐Bastaraud, Cecile Cieuta Walti, Jan E. Liebelt, Frances Elmslie	2021	7
17	NBEA: Developmental disease gene with early generalized epilepsy phenotypes Archive ouverte UNIGE (University of Geneva) ·Maureen S. Mulhern, Constance Stumpel, Nicholas Stong, Han G Brunner, Louise Bier, Natalie Lippa, James Riviello, Rob P W Rouhl	2018	4
18	Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism Molecular Genetics and Metabolism ·Maya Chopra, Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha, Anupriya Kaur, Parmeet Kaur	2021	4
19	A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism Journal of Genetics ·Rupa Udani, Kala F. Schilter, Rebecca C. Tyler, Brandon A. Smith, Jaime L. Wendt-Andrae, Ulrike P. Kappes, Gunter H. Scharer, Anna Lehman	2023	3
20	Disco‐Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder Movement Disorders ·Emilie T. Théberge, Kate Durbano, Diane Demailly, Sophie Huby, Aleksandra Mitina, Yue Yin, Arezoo Mohajeri, Clara D.M. van Karnebeek	2025	3

About Anna Lehman

Anna Lehman is a scholar working on Genetics, Cell Biology, Molecular Biology, Cognitive Neuroscience and Aging, having authored 26 papers that have together received 762 indexed citations. Recurring topics across this work include Genomics and Rare Diseases (13 papers), Genetics and Neurodevelopmental Disorders (11 papers), Autism Spectrum Disorder Research (3 papers), Genomic variations and chromosomal abnormalities (3 papers), Congenital heart defects research (2 papers), Cardiomyopathy and Myosin Studies (2 papers), Endoplasmic Reticulum Stress and Disease (2 papers) and Lysosomal Storage Disorders Research (1 paper). The work is most often cited by research in Genetics (324 citations), Molecular Biology (332 citations), Psychiatry and Mental health (64 citations), Cellular and Molecular Neuroscience (77 citations) and Cell Biology (59 citations). Anna Lehman has collaborated with scholars based in Canada, United States and France. Frequent co-authors include Karine Morcel, Laurent Pasquier, Claire Josse, Aimé Zola Lumaka, Laura T. Arbour, Véronique David, Adeline Jacquinet, Maja Tarailo‐Graovac, Elise Brischoux‐Boucher and Vincent Bours. Their work appears in journals such as The American Journal of Human Genetics, Genetics in Medicine, European Journal of Human Genetics, npj Genomic Medicine and Circulation Genomic and Precision Medicine.

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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Anna Lehman

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Anna Lehman

Anna Lehman's Hit Papers

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Fields of papers citing papers by Anna Lehman

All Works

About Anna Lehman

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