Suzanne M. Leal

30.3k total citations · 5 hit papers
211 papers, 10.8k citations indexed

About

Suzanne M. Leal is a scholar working on Molecular Biology, Genetics and Sensory Systems. According to data from OpenAlex, Suzanne M. Leal has authored 211 papers receiving a total of 10.8k indexed citations (citations by other indexed papers that have themselves been cited), including 104 papers in Molecular Biology, 94 papers in Genetics and 57 papers in Sensory Systems. Recurrent topics in Suzanne M. Leal's work include Hearing, Cochlea, Tinnitus, Genetics (56 papers), Genetic Associations and Epidemiology (48 papers) and Genomics and Rare Diseases (26 papers). Suzanne M. Leal is often cited by papers focused on Hearing, Cochlea, Tinnitus, Genetics (56 papers), Genetic Associations and Epidemiology (48 papers) and Genomics and Rare Diseases (26 papers). Suzanne M. Leal collaborates with scholars based in United States, Pakistan and South Africa. Suzanne M. Leal's co-authors include Bingshan Li, Evan E. Eichler, Augustine Kong, Greg Gibson, Jason H. Moore, Jonathan Flint, Joseph H. Nadeau, Dajiang J. Liu, Jürg Ott and Deborah A. Nickerson and has published in prestigious journals such as Nature, New England Journal of Medicine and Proceedings of the National Academy of Sciences.

In The Last Decade

Suzanne M. Leal

205 papers receiving 10.6k 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.

Missing heritability and strategies for finding the underlying causes of complex disease

2010 1.1k citations Suzanne M. Leal et al. profile →
Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

2008 1.1k citations Bingshan Li, Suzanne M. Leal The American Journal of Human Genetics profile →
Single-nucleotide polymorphism in the human mu opioid receptor gene alters β-endorphin binding and activity: Possible implications for opiate addiction

1998 855 citations Suzanne M. Leal et al. profile →
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

2012 620 citations Suzanne M. Leal, Michael J. Bamshad et al. profile →
Excess of rare, inherited truncating mutations in autism

2015 345 citations Suzanne M. Leal et al. profile →

Peers

Countries citing papers authored by Suzanne M. Leal

Since Specialization

Citations

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

Fields of papers citing papers by Suzanne M. Leal

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Suzanne M. Leal. 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 Suzanne M. Leal. The network helps show where Suzanne M. Leal may publish in the future.

Co-authorship network of co-authors of Suzanne M. Leal

This figure shows the co-authorship network connecting the top 25 collaborators of Suzanne M. Leal. A scholar is included among the top collaborators of Suzanne M. Leal 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 Suzanne M. Leal. Suzanne M. Leal 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	Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis 2025 ·European Journal of Human Genetics ·(unknown), (unknown), Rui Dong, Gao T. Wang, Isabelle Schrauwen, Andrew T. DeWan, Suzanne M. Leal	0
2	The Diverse Genetic Landscape of Hearing Impairment in South African Families 2025 ·Clinical Genetics ·(unknown), Anushree Acharya, (unknown), (unknown), (unknown), (unknown), (unknown), Carmen De Kock, Isabelle Schrauwen, Ambroise Wonkam, Suzanne M. Leal	0
3	A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa 2025 ·BMC Medical Genomics ·(unknown), (unknown), Umme Kalsoom, Anushree Acharya, Saadullah Khan, Suzanne M. Leal, Isabelle Schrauwen	0
4	A Novel Variant in VPS13B Underlying Cohen Syndrome 2023 ·BioMed Research International ·A. Hussain, Anushree Acharya, (unknown), Suzanne M. Leal, (unknown), Asif Mir, Isabelle Schrauwen	0
5	A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome 2023 ·European Journal of Human Genetics ·(unknown), Muhammad Arif Nadeem Saqib, Edwin Mientjes, Anushree Acharya, Muhammad Rizwan Alam, Ilse Wallaard, Isabelle Schrauwen, Michael J. Bamshad, Regie Lyn P. Santos‐Cortez, Ype Elgersma, Suzanne M. Leal, Muhammad Ansar	3
6	Comparison of multiple imputation and other methods for the analysis of imputed genotypes 2023 ·BMC Genomics ·Paul L. Auer, Gao Wang, Guangyou Li, Andrew T. DeWan, Suzanne M. Leal	2
7	A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria 2023 ·American Journal of Medical Genetics Part A ·(unknown), Riitta Parkkola, (unknown), (unknown), Anushree Acharya, Suzanne M. Leal, Irma Järvelä, Maria Arvio, Isabelle Schrauwen	1
8	Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant 2022 ·Molecular Genetics & Genomic Medicine ·(unknown), Isabelle Schrauwen, Anushree Acharya, (unknown), Marja‐Leena Väisänen, (unknown), Elisa Rahikkala, Irma Järvelä, (unknown), Suzanne M. Leal	1
9	Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome 2018 ·Human Mutation ·Rabia Faridi, Risa Tona, Alessandra Brofferio, Michael Hoa, Rafal T. Olszewski, Isabelle Schrauwen, Muhammad Zaman Khan Assir, (unknown), Asma Ali Khan, Atteeq U. Rehman, Carmen C. Brewer, (unknown), Suzanne M. Leal, Sheikh Riazuddin, Steven E. Boyden, Thomas B. Friedman	27
10	A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families 2011 ·PubMed ·Kwanghyuk Lee, Saadullah Khan, Muhammad Ansar, Regie Lyn P. Santos‐Cortez, Wasim Ahmad, Suzanne M. Leal	9
11	Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment 2010 ·The American Journal of Human Genetics ·Margit Schraders, Kwanghyuk Lee, Jaap Oostrik, P.L.M. Huygen, Ghazanfar Ali, Lies H. Hoefsloot, Joris A. Veltman, Frans P.M. Cremers, Sulman Basit, Muhammad Ansar, Cor W. R. J. Cremers, Henricus P. M. Kunst, Wasim Ahmad, R.J.C. Admiraal, Suzanne M. Leal, Hannie Kremer	50
12	A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis 2009 ·The American Journal of Human Genetics ·Dina Ahram, T. Shawn Sato, (unknown), Marwan K. Tayeh, Shan Chen, Suzanne M. Leal, (unknown), Hatem El‐Shanti	101
13	VAMP8/endobrevin is overexpressed in hyperreactive human platelets: suggested role for platelet microRNA 2009 ·Journal of Thrombosis and Haemostasis ·Altaf A. Kondkar, Molly S. Bray, Suzanne M. Leal, Srinivasa R. Nagalla, (unknown), Ying Jin, Jing Dong, (unknown), Sidney W. Whiteheart, Chad A. Shaw, Paul F. Bray	156
14	Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data breakdown → 2008 ·The American Journal of Human Genetics ·Bingshan Li, Suzanne M. Leal	1060
15	Mitochondrial Genetic Background Modifies Breast Cancer Risk 2007 ·Cancer Research ·Renkui Bai, Suzanne M. Leal, (unknown), Aiyi Liu, Lee‐Jun C. Wong	200
16	A distinct autosomal recessive ataxia maps to chromosome 12in an inbred family from Jordan 2006 ·Brain and Development ·Hatem El‐Shanti, Azhar S. Daoud, (unknown), Suzanne M. Leal, Shan Chen, Kwanghyuk Lee, (unknown)	6
17	Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment 2005 ·Journal of Molecular Medicine ·(unknown), Hatem El‐Shanti, (unknown), Kwanghyuk Lee, Attya Bhatti, Kai Yan, Maria H. Chahrour, (unknown), (unknown), Amjad Mahasneh, Wasim Ahmad, Suzanne M. Leal	19
18	PAX4 gene variations predispose to ketosis-prone diabetes 2004 ·Human Molecular Genetics ·(unknown), Stuart B. Smith, Cédric Le May, Suzanne M. Leal, Jean–François Gautier, (unknown), Jean‐Pierre Riveline, Arun S. Rajan, Jean-Philippe Kévorkian, Sumei Zhang, (unknown), Michael S. German, Christian Vaisse	99
19	Effects of Stratification in the Analysis of Affected-Sib-Pair Data: Benefits and Costs 2000 ·The American Journal of Human Genetics ·Suzanne M. Leal, Jürg Ott	63
20	Fine Mapping of Progressive Pseudorheumatoid Dysplasia: A Tool for Heterozygote Identification 1999 ·Genetic Testing ·(unknown), Jamil Al-Alami, Suzanne M. Leal, Hatem El‐Shanti	5

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