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List of works by Suzanne M. Leal

A Fast and Noise‐Resilient Approach to Detect Rare‐Variant Associations With Deep Sequencing Data for Complex Disorders

scientific article published on August 3, 2012

A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

scientific article published in 2021

A Novel Adaptive Method for the Analysis of Next-Generation Sequencing Data to Detect Complex Trait Associations with Rare Variants Due to Gene Main Effects and Interactions

scientific article published on October 14, 2010

A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families

scientific article published on September 25, 2011

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

scientific journal article

A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data

scientific article published on 01 October 2019

A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes

scientific article published on 22 July 2019

A Unified Method for Detecting Secondary Trait Associations with Rare Variants: Application to Sequence Data

scientific article published on November 15, 2012

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

scientific article

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss

scientific article published on 08 October 2019

A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family

scientific article published on 27 March 2018

A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.

scientific article published on 10 January 2006

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

scientific article published on 09 March 2016

A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family

scientific article

A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair

scientific article

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis

scientific article published on 05 February 2009

A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.

scientific article published in August 2003

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

scientific article

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

scientific article published on 22 September 2011

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.

scientific article published on 21 September 2006

A non-coding RNASEH1 gene variant associates with Type 1 diabetes and interacts with HLA tagSNPs in families from Colombia

scientific article published on 23 May 2020

A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana

scientific article published in 2022

A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan

scientific article

A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.

scientific article

A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.

scientific article published in February 2005

A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.

scientific article

A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.

scientific article published on 10 January 2018

A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.

scientific article published in September 2006

A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3

scientific article

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.

scientific article published on 21 December 2015

A novel variant in <i>DMXL2</i> gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family

scientific article published on 09 March 2021

A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis

scientific article

A second generation human haplotype map of over 3.1 million SNPs

scientific article

A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval.

scientific article published in January 2003

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

scientific article published on 03 July 2018

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways

scientific article published on 21 May 2019

AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.

scientific article published in July 2006

Abstract 2190: Fine-mapping of common genetic variants associated with colorectal tumor risk identified potential functional variants

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

scientific article

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

scientific article

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

scientific article published on 28 November 2012

Association of exome sequences with plasma C-reactive protein levels in >9000 participants

scientific article

Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

scientific article published on 23 June 2020

Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene

scientific article published on January 1, 2011

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

scientific article published on January 2011

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

scientific article published on 19 January 2016

Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment

scientific article published on 23 October 2020

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

scientific article published in 2021

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

scientific article published on 20 April 2015

Centers for Mendelian Genomics: A decade of facilitating gene discovery

scientific article published on 09 February 2022

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

scientific article

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

scientific article published in 2019

Collapsed haplotype pattern method for linkage analysis of next-generation sequence data

scientific article

Complex phenotypes and complex genetics: an introduction to genetic studies of complex traits

scientific article

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

scientific article published on 01 September 2018

Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

scientific article published in 2021

DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12.

scientific article

DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22.

scientific article

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.

scientific article

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.

scientific article published on 22 December 2010

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

scientific article published on 03 August 2021

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

scientific article published on 09 January 2020

Discovery of common and rare genetic risk variants for colorectal cancer

scientific article published on 03 December 2018

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

scientific article published in 2021

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry

scientific article published on 03 May 2019

Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

scientific article published on 01 December 2006

Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data

scientific article published on 21 November 2017

Erratum: Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

scientific article published in Nature

Erratum: The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data

scientific article

Estimating Genetic Effects and Quantifying Missing Heritability Explained by Identified Rare-Variant Associations

scientific article published on September 27, 2012

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

scientific article (publication date: 6 July 2012)

Excess of rare, inherited truncating mutations in autism

scientific article published on 11 May 2015

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

scientific article

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

scientific article published on 19 April 2022

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

scientific article published on 23 December 2015

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

scientific article published on 05 November 2018

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

scientific article published on 8 February 2016

FUT2 Variants Confer Susceptibility to Familial Otitis Media

Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants

scientific article

Fine-scale patterns of population stratification confound rare variant association tests

scientific article

From exomes to genomes: challenges and solutions in population-based genetic association studies

scientific article published on 25 January 2017

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74

scientific article

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

scientific article published on 28 October 2019

GENOME-WIDE ASSOCIATION MAPPING AND RARE ALLELES: FROM POPULATION GENOMICS TO PERSONALIZED MEDICINE – Session Introduction

scientific article published on January 1, 2011

Generation of sequence-based data for pedigree-segregating Mendelian or Complex traits

scientific article

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations

scientific article published on 24 January 2020

Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.

scientific article

Genetic variation responsible for mouse strain differences in integrin alpha 2 expression is associated with altered platelet responses to collagen

scientific article

Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.

scientific article published on 11 September 2011

Genome-wide association study of platelet aggregation in African Americans

scientific article published on 30 May 2015

Genome-wide detection and characterization of positive selection in human populations

scientific article

Global Chromosomal Structural Instability in a Subpopulation of Starving Escherichia coli Cells

scientific article published on August 25, 2011

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

scientific article

Guidelines for investigating causality of sequence variants in human disease

scientific article

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

scientific article published on 14 March 2019

Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection

scientific article published in November 2017

Heterozygosity mapping for human dominant trait variants

scientific article published on 24 April 2019

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

scientific article

Human genome-wide association and mouse knockout approaches identify platelet supervillin as an inhibitor of thrombus formation under shear stress

scientific article

Identification of ASAH1 as a susceptibility gene for familial keloids

scientific article published on 26 July 2017

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

scientific article published on 30 November 2018

Identifying rare variants associated with complex traits via sequencing

scientific article published on July 2013

Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.

scientific article published in April 2005

Is there a genetic susceptibility locus for Parkinson's disease on chromosome 22q13?

scientific article published in June 1997

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

scientific article published on 12 January 2016

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

scientific article published in April 2018

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).

scientific article

Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.

scientific article

Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan

scientific article

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.

scientific article

Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.

scientific article

Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3.

scientific article published on 5 November 2005

Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3.

scientific article published on 01 July 2004

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

scientific article

Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment

scientific article

MAT2A mutations predispose individuals to thoracic aortic aneurysms

scientific article

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

scientific article published on 20 June 2018

Map error reduction: using genetic and sequence-based physical maps to order closely linked markers

scientific article published on 01 January 2002

Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2.

scientific article published on 19 April 2007

Mapping of a new autosomal recessive non-syndromic hearing impairment locus (DFNB45) to chromosome 1q43-q44.

scientific article published on 03 March 2008

Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31

scientific article published on 01 February 2005

Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings

scientific article published on 21 May 2020

MendelProb: probability and sample size calculations for Mendelian studies of exome and whole genome sequence data

scientific article published on 01 February 2019

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

scientific article (publication date: June 2010)

Mitochondrial DNA variant interactions modify breast cancer risk

scientific article published on 19 August 2008

Mitochondrial genetic background modifies breast cancer risk

scientific article published in May 2007

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

scientific article published on 16 February 2016

Multi-omic studies on missense PLG variants in families with otitis media

scientific article published on 14 September 2020

Mutation of ATF6 causes autosomal recessive achromatopsia

scientific article published on 11 June 2015

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

scientific article

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome

scientific article published on 12 December 2018

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

scientific article

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

scientific article published on January 2014

Mutations in the Wolfram Syndrome Type 1 Gene (WFS1) Define a Clinical Entity of Dominant Low-Frequency Sensorineural Hearing Loss

scientific article published on April 1, 2003

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

scientific article

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

scientific article

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

scientific article published on 10 June 2011

Nephropathic cystinosis (CTNS-LSB): construction of a YAC contig comprising the refined critical region on chromosome 17p13

scientific article published on 01 January 1997

Next generation analytic tools for large scale genetic epidemiology studies of complex diseases

scientific article

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

scientific article

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

scientific article published on 13 January 2012

Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.

scientific article published on 23 November 2012

Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment

scientific article

Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.

scientific article published on 20 February 2009

Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.

scientific article

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

article

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment

scientific article published on 03 September 2018

Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia

scientific article published on 01 April 2003

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

scientific article

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

scientific article

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.

scientific article

Novel somatic and germline mutations in intracranial germ cell tumours.

scientific article

Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants

scientific article published on 24 July 2020

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections

scientific article published on December 2015

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

scientific article published on 28 March 2013

PhenoMan: phenotypic data exploration, selection, management and quality control for association studies of rare and common variants

scientific article

Platelet microRNA-mRNA coexpression profiles correlate with platelet reactivity.

scientific article

Positive selection of a pre-expansion CAG repeat of the human SCA2 gene

scientific article

Power analysis and sample size estimation for sequence-based association studies

scientific article

RNF213 rare variants in an ethnically diverse population with Moyamoya disease

scientific article published on 2 October 2014

Rare A2ML1 variants confer susceptibility to otitis media

scientific article

Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections

scientific article

Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project

scientific article published on 13 January 2016

Rare variation facilitates inferences of fine-scale population structure in humans

scientific article

Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data

scientific article

Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections

scientific article

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections

scientific article published on August 2013

Replication Strategies for Rare Variant Complex Trait Association Studies via Next-Generation Sequencing

scientific article published on December 10, 2010

SEQSpark: A Complete Analysis Tool for Large-Scale Rare Variant Association Studies Using Whole-Genome and Exome Sequence Data

scientific article

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

scientific article published on 19 January 2019

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

scientific article published in December 2017

Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms

scientific article published on 14 July 2016

SimRare: a program to generate and analyze sequence-based data for association studies of quantitative and qualitative traits

scientific article

Sleepwalking and Sleep Paralysis: Prevalence in Colombian Families With Genetic Generalized Epilepsy

scientific article published on 23 April 2019

Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.

scientific article published on 15 December 2007

Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene

scientific article published on 10 October 2020

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

scientific article

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

scientific article published on 27 June 2013

Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.

scientific article published on June 2016

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region

scientific article published in July 2010

Testing for rare variant associations in the presence of missing data

scientific article

The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data

scientific article

The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees

scientific article published on 01 September 2018

The chicken frizzle feather is due to an α-keratin (KRT75) mutation that causes a defective rachis

scientific article

The effect of phenotypic outliers and non-normality on rare-variant association testing

scientific article published on 6 January 2016

The genetic contribution of the X chromosome in age-related hearing loss

scientific article published in 2023

The genetics of colored sequence synesthesia: suggestive evidence of linkage to 16q and genetic heterogeneity for the condition.

scientific article

The map problem: a comparison of genetic and sequence-based physical maps

scientific article

The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23

scientific article

The role of CDHR3 in susceptibility to otitis media

scientific article published in 2021

Type 1 diabetes loci display a variety of native American and African ancestries in diseased individuals from Northwest Colombia

scientific article published on 01 November 2019

VAMP8/endobrevin is overexpressed in hyperreactive human platelets: suggested role for platelet microRNA

scientific article

Variant association tools for quality control and analysis of large-scale sequence and genotyping array data

scientific article

Variants in the APOA5 gene region and the response to combination therapy with statins and fenofibric acid in a randomized clinical trial of individuals with mixed dyslipidemia

article

[An analysis of the fundus changes in families with high myopia]

scientific article published on 01 January 2007