Stephen W. Scherer

119.6k citations

534 papers · 40.0k indexed · 15 hit papers · h-index 97

Molecular Biology top 0.05%
Genetics top 0.01%
Plant Science top 0.2%
Cognitive Neuroscience top 0.5%
Cancer Research top 0.2%

Co-authors: Lars Feuk Ronald W. Davis Andrew R. Carson Charles Lee Christian R. Marshall Jeffrey R. MacDonald Lap‐Chee Tsui Dan T. Stinchcomb
Topics: Genomic variations and chromosomal abnormalities (175 papers)Genetics and Neurodevelopmental Disorders (123 papers)Autism Spectrum Disorder Research (92 papers)
Cited by: Genetics Molecular Biology Cognitive Neuroscience
Journals: Nature Science New England Journal of Medicine
Partner nations: Canada United States United Kingdom

In The Last Decade

Stephen W. Scherer

523 papers receiving 38.8k citations

Hit Papers

5 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.

Detection of large-scale variation in the human genome

2004 2.1k citations Stephen W. Scherer, Charles Lee et al. profile →
Structural variation in the human genome

2006 1.4k citations Andrew R. Carson, Stephen W. Scherer et al. profile →
High-frequency transformation of yeast: autonomous replication of hybrid DNA molecules.

1979 1.3k citations Stephen W. Scherer et al. profile →
Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes

2007 1.3k citations Charles Lee, Stephen W. Scherer et al. profile →
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1996 871 citations Stephen W. Scherer et al. profile →
The human splicing code reveals new insights into the genetic determinants of disease

2014 829 citations Daniele Merico, Ryan K. C. Yuen et al. profile →
The Database of Genomic Variants: a curated collection of structural variation in the human genome

2013 814 citations Jeffrey R. MacDonald, Ryan K. C. Yuen et al. profile →
MADR2 Maps to 18q21 and Encodes a TGFβ–Regulated MAD–Related Protein That Is Functionally Mutated in Colorectal Carcinoma

1996 717 citations Stephen W. Scherer et al. profile →
Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene

1993 717 citations Stephen W. Scherer et al. profile →
Replacement of chromosome segments with altered DNA sequences constructed in vitro.

1979 671 citations Stephen W. Scherer et al. profile →
Mutations in SUFU predispose to medulloblastoma

2002 596 citations Stephen W. Scherer et al. profile →
Copy number variation: New insights in genome diversity

2006 592 citations George H. Perry, Stephen W. Scherer et al. profile →
A copy number variation map of the human genome

2015 558 citations Mehdi Zarrei, Jeffrey R. MacDonald et al. profile →
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

1996 501 citations Stephen W. Scherer et al. profile →
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

2019 367 citations Stephen W. Scherer et al. profile →

Peers

Countries citing papers authored by Stephen W. Scherer

Since Specialization

Citations

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

Fields of papers citing papers by Stephen W. Scherer

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Stephen W. Scherer. 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 Stephen W. Scherer. The network helps show where Stephen W. Scherer may publish in the future.

Co-authorship network of co-authors of Stephen W. Scherer

This figure shows the co-authorship network connecting the top 25 collaborators of Stephen W. Scherer. A scholar is included among the top collaborators of Stephen W. Scherer 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 Stephen W. Scherer. Stephen W. Scherer 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	Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing 2025 ·npj Genomic Medicine ·Daniele Merico,Nigel Sharfe,Harjit Dadi,Bhooma Thiruvahindrapuram,(unknown),(unknown),Mehdi Zarrei,(unknown),(unknown),Linda Vong,Stephen W. Scherer,Chaim M. Roifman	1
2	Increased burden of rare protein‐truncating variants in constrained, brain‐specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder 2024 ·Genes Brain & Behavior ·(unknown),Anna Přistoupilová,Ivana Jedličková,Hana Hartmannová,(unknown),Lenka Nosková,Kateřina Hodaňová,(unknown),Viktor Stránecký,(unknown),(unknown),Marc Woodbury‐Smith,Mehdi Zarrei,Brett Trost,Stephen W. Scherer,Anthony J. Bleyer,Jan Vevera,Stanislav Kmoch	5
3	Three generation families: Analysis of de novo variants in autism 2023 ·European Journal of Human Genetics ·Claudia Ismania Samogy Costa,Gabriele da Silva Campos,(unknown),(unknown),Marília O. Scliar,Frederico Monfardini,Elaine Cristina Zachi,Naila Cristina Vilaça Lourenço,Ada J. S. Chan,Sérgio L. Pereira,Worrawat Engchuan,Bhooma Thiruvahindrapuram,Mehdi Zarrei,Stephen W. Scherer,Maria Rita Passos‐Bueno	3
4	Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous MYT1L Variant 2023 ·Genes ·(unknown),Kristina Calli,Ying Qiao,Brett Trost,Stephen W. Scherer,M. E. Suzanne Lewis	0
5	Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies 2022 ·European Journal of Human Genetics ·Miriam S. Reuter,Michael Zech,Maja Hempel,Janine Altmüller,Tracy Heung,(unknown),René Santer,Hölger Thiele,Brett Trost,Christian Kubisch,Stephen W. Scherer,Sabine Rudnik‐Schöneborn,Anne S. Bassett,Davor Lessel	3
6	Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila 2022 ·Molecular Psychiatry ·(unknown),Danielle de Paula Moreira,(unknown),Isaac E. García,Francisco Aboitiz,Mehdi Zarrei,Gabriele da Silva Campos,Olivia Rennie,Jennifer Howe,Evdokia Anagnostou,(unknown),Stephen W. Scherer,Maria Rita Passos‐Bueno,John Ewer	12
7	Genome-wide tandem repeat expansions contribute to schizophrenia risk 2022 ·Molecular Psychiatry ·Bahareh A. Mojarad,Worrawat Engchuan,Brett Trost,Ian Backstrom,Yue Yin,Bhooma Thiruvahindrapuram,(unknown),(unknown),(unknown),Giovanna Pellecchia,(unknown),(unknown),Tracy Heung,Gregory Costain,Stephen W. Scherer,Christian R. Marshall,Christopher E. Pearson,Anne S. Bassett,Ryan K. C. Yuen	22
8	Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay 2022 ·npj Genomic Medicine ·Yi Liu,(unknown),Mehdi Zarrei,Rui Dong,Xiaomeng Yang,Edward J. Higginbotham,Yue Li,Dongmei Zhao,Fengling Song,Yali Yang,Haiyan Zhang,Ying Wang,Stephen W. Scherer,(unknown)	7
9	Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot 2021 ·Circulation Genomic and Precision Medicine ·Miriam S. Reuter,Rajiv Chaturvedi,Rebekah Jobling,Giovanna Pellecchia,Omar Hamdan,Wilson W. L. Sung,Thomas Nalpathamkalam,(unknown),Candice K. Silversides,Rachel M. Wald,Christian R. Marshall,Simon G. Williams,Bernard Keavney,Bhooma Thiruvahindrapuram,Stephen W. Scherer,Anne S. Bassett	18
10	Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes 2021 ·Clinical Genetics ·Claudia Ismania Samogy Costa,(unknown),Mehdi Zarrei,Eloisa De Sá Moreira,Isabela Mayá Wayhs Silva,Marília O. Scliar,(unknown),Elaine Cristina Zachi,(unknown),Silvia Souza da Costa,Naila Cristina Vilaça Lourenço,Angela Maria Vianna‐Morgante,Carla Rosenberg,Ana Cristina Victorino Krepischi,Stephen W. Scherer,Maria Rita Passos‐Bueno	16
11	VikNGS: a C++ variant integration kit for next generation sequencing association analysis 2019 ·Bioinformatics ·Zeynep Baskurt,(unknown),Jiafen Gong,Richard F. Wintle,Stephen W. Scherer,Lisa J. Strug	1
12	Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS 2019 ·Biological Psychiatry ·P. Joel Ross,Wenbo Zhang,Rebecca S.F. Mok,Kirill Zaslavsky,Éric Deneault,Lia D’Abate,Deivid C. Rodrigues,Ryan K. C. Yuen,Muhammad Faheem,Marat Mufteev,Alina Piekna,Wei Wei,Peter Pasceri,Rebecca Landa,András Nagy,Balázs Varga,Michael W. Salter,Stephen W. Scherer,James Ellis	51
13	SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons 2019 ·Nature Neuroscience ·Kirill Zaslavsky,(unknown),(unknown),Deivid C. Rodrigues,Éric Deneault,(unknown),Melody Zhao,P. Joel Ross,(unknown),(unknown),Tadeo Thompson,Alina Piekna,Wei Wei,Zhuozhi Wang,Shahryar Khattak,Marat Mufteev,Peter Pasceri,Stephen W. Scherer,Michael W. Salter,James Ellis	122
14	Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome 2019 ·Nature Communications ·(unknown),Chang Hoon Cho,(unknown),(unknown),(unknown),Hediye Erdjument‐Bromage,Svetlana Cvejic,Alana Iaboni,(unknown),(unknown),Ehud Banne,Evdokia Anagnostou,Thomas A. Neubert,Stephen W. Scherer,Sophie Molholm,Bryen A. Jordan	24
15	Rare copy number variation in extremely impulsively violent males 2018 ·Genes Brain & Behavior ·Jan Vevera,Mehdi Zarrei,Hana Hartmannová,Ivana Jedličková,(unknown),Anna Přistoupilová,(unknown),(unknown),Lenka Nosková,Kateřina Hodaňová,Viktor Stránecký,(unknown),Marek Preiss,(unknown),(unknown),John Wei,Marc Woodbury‐Smith,Anthony J. Bleyer,Stephen W. Scherer,Stanislav Kmoch	10
16	Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta‐analysis 2017 ·American Journal of Medical Genetics Part B Neuropsychiatric Genetics ·Yanqing Zhang,Yi Liu,Mehdi Zarrei,(unknown),Rui Dong,Ying Wang,Haiyan Zhang,Xiaomeng Yang,Jeffrey R. MacDonald,Mohammed Uddin,Stephen W. Scherer,(unknown)	19
17	Early-onset Lafora body disease 2012 ·Brain ·Julie Turnbull,(unknown),Hannes Lohi,Elayne M. Chan,Peixiang Wang,(unknown),Salah Omer,Mushtaq Ahmed,Christopher Bennett,Aruna Chakrabarty,Atul Tyagi,Yan Liu,Nela Pencea,Xiaochu Zhao,Stephen W. Scherer,Cameron Ackerley,Berge A. Minassian	55
18	Copy number variation 2009 ·The biomedical & life sciences collection. ·Stephen W. Scherer	1
19	Material changes in milk due to processing to prolong shelf life. 2009 ·(unknown),Stephen W. Scherer,Ulrich Kulozik	1
20	Identification of the Imprinted KLF14 Transcription Factor Undergoing Human-Specific Accelerated Evolution 2007 ·PLoS Genetics ·(unknown),Andrew R. Carson,Takahiro Yamada,Philippe Arnaúd,Robert Feil,Sayeda Abu‐Amero,(unknown),Masahiro Kaneda,George H. Perry,Anne C. Stone,Charles Lee,Makiko Meguro‐Horike,Hiroyuki Sasaki,Keiko Kobayashi,Kazuhiko Nakabayashi,Stephen W. Scherer	66

About Stephen W. Scherer

Stephen W. Scherer is a scholar working on Genetics, Cognitive Neuroscience and Developmental Biology, having authored 534 papers that have together received 40.0k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (175 papers), Genetics and Neurodevelopmental Disorders (123 papers) and Autism Spectrum Disorder Research (92 papers). The work is most often cited by research in Genetics (18.5k citations), Molecular Biology (22.5k citations) and Cognitive Neuroscience (4.0k citations). Stephen W. Scherer has collaborated with scholars based in Canada, United States and United Kingdom. Frequent co-authors include Lars Feuk, Ronald W. Davis, Andrew R. Carson, Charles Lee, Christian R. Marshall, Jeffrey R. MacDonald, Lap‐Chee Tsui, Dan T. Stinchcomb, Kevin Struhl and David A. Stevens. Their work appears in journals such as Nature, Science and New England Journal of 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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