Suzanne M Leal PhD
From Center for Statistical Genetics
Contents
Education
- MS, Biostatistics, Columbia University, 1989
- PhD, Epidemiology, Columbia University, 1994
- Post-Doctoral Fellowship, University of Tübingen, 1996
Research Interests
- Linkage analysis of human diseases
- Whole-genome and candidate gene association studies
- Development of new methods and software in gene mapping
- Analysis of rare variant sequence data
- Analysis of copy number variations
Applied Gene Mapping Projects
- Nonsyndromic Hearing Impairment
- Alzheimer's Disease
- Bipolar Disorder
- Aortic Dissection and Aneurysm
- Left Ventricular Outflow Tract Obstruction
- Platelet Aggregation
- Prostate and Breast Cancer
- Pain
- Keloids
Professional Statement
I am a Professor in the Department of Neurology at Columbia University and Director of the Center for Statistical Genetics. I am also a Senior Research Associate at The Rockefeller University. I received a Master of Science degree in Biostatistics in 1989 and a Doctor of Philosophy degree in Epidemiology in 1994 from Columbia University. My interest lies in statistical genetics and genetic epidemiology. In addition to applied work, mapping disease/trait loci, I have worked extensively in developing methods to aid in gene identification and understanding disease etiology.
Currently, my major interest is in the development of methods to analyze rare variants. This work includes the Combined Multivariate and Collapsing (CMC) method (Li and Leal, 2008) which was the first test specifically developed to detect complex trait rare variant associations and the Kernel Based Adaptive Cluster (KBAC) method (Liu and Leal, 2010a). My group proceeded to develop additional rare variant association methods: to control type I error when there is missing variant data (Auer et al. 2013); to control type I error when sequencing is used for variant discovery in a subset of samples (Liu and Leal, 2012a); to detect secondary trait associations (Liu and Leal, 2012b; Liu and Leal, 2012c) and to analyze family data (Liu and Leal, 2012d; He et al. 2014). We also developed methods to estimate genetic effects and quantify the heritability for rare variants (Liu and Leal 2012e). Simulation programs, SimRare (Li, Wang and Leal 2012) and SEQPower (Wang et al. 2014a), were developed in order to evaluate power and type I error for rare variant association methods. The Variant Association Tools (VAT) pipeline was developed by my group to perform both quality control and association analysis of sequence, genotype and imputed data with an emphasis on the analysis of rare variants (Wang et al. 2014b). Additionally we investigated the best strategies to design rare variant studies (Li and Leal 2009) and to perform replication studies (Liu and Leal 2010b). Recently we published an article on analyzing rare variants in trio data and these methods were applied to the analysis of autism (He et al. 2014). We are continuing to develop rare variant association and linkage (parametric and allele sharing) methods for analyzing family data (eg, Wang et al. 2015). Some of these methods are being developed specifically for a project on autism project, for example methods that incorporate information from both transmitted and de novo events.
On the applied side, I have studied a wide variety of phenotypes including: autism, platelet reactivity, bipolar disorder, coronary diseases (i.e. LVOTO and aneurysm and dissection) and non-syndromic hearing impairment (NSHI). The study on NSHI, for which I am the principal investigator, has been funded for the past 18 years by the National Institute of Deafness and other Communication Disorders. This research is currently funded by two National Institute of Health (NIH) R01 grants for which I am the sole principal investigator. Over 650 families with NSHI from Pakistan, USA, Jordan, Switzerland, Poland and Turkey have been ascertained leading to the identification and publication of >20 new NSHI loci as well as eleven novel NSHI genes. This study now utilizes exome sequencing which has greatly enhanced the speed of novel gene identification. A number of genes have been identified using exome sequence data including: KARS (Santos-Cortez et al. 2013); TBC1D24 (Rehman et al. 2014) and ADCY1 (Santos-Cortez et al. 2014). In addition to studying NSHI I have also recently expanded my research to study several other Mendelian traits which include phenotypes which encompass the eyes, skin, nail, brain and bone. Thus far we have collect 85 families for which we are currently performing mapping of these traits and following up the findings with exome sequencing.
I am also involved in the analysis of several large-scale next generation sequencing projects: National Heart, Lung and Blood Institute (NHLBI) - Exome Sequencing Project (ESP), Mendelian Exome Sequencing Project, Minority Health-GRID Network on Hypertension and the Colorectal Cancer Susceptibility Genome Sequencing Project. I led the statistical analysis of NHLBI-ESP project one of the first large scale exome sequencing projects. Using data from ~6,800 exomes, analysis was performed on >70 heart, blood and lung related traits. Data from this project has also been used for the study of population genetics (Tennessen et al. 2012; Fu et al. 2013; O’Conner et al. 2013). I presented highlights of the findings from NHLBI-ESP at the plenary session at the American Society of Human Genetics in 2012 and I am currently leading the writing team describing the major results from the study.
My research is currently supported by 10 grants from the NIH and a grant from the Department of Defense. I have published >170 peered reviewed articles and I am either sole, first or senior author on >65 of these articles. I am an associate editor for the American Journal of Human Genetics and PLoS Genetics and serve on the program committee for the American Society of Human Genetics. I previously was a member of the board of directors for the International Society of Genetic Epidemiology (2007-2013) and was also the President of this society in 2012.
I teach and organize courses in statistical genetics. For the past 19 years I have organized and taught the Advanced Gene Mapping Course which is held annually at The Rockefeller University. This course is supported by a grant from the NIH for which I am the principal investigator. I also organize and teach statistical genetic courses at the Max Delbrück Center in Berlin. In recent years, I have taught courses at Beijing University, Fudan University (Shanghai), Kyoto University, University of Helsinki, University of Toronto, University of Oslo, Erasmus University (Rotterdam), Max Planck Institute (Berlin) and Seoul National University. I am involved in training graduate students and postdoctoral fellows from Rice University and Baylor College of Medicine as well as mentoring a number of international pre-doctoral trainees.
References
- Auer PL, Wang G, NHLBI Exome Sequencing Project, Leal SM (2013) Testing for rare variant associations in the presence of missing data. Genet Epidemiol 37:529-38. PMID: 23757187 PMCID: in progress
- He A, O’Roak BJ, Smith JD, Wang G, Hooker S, Li B, Kan M, Krumm N, Nickerson DA, Shendure J, Eichler EE, Leal SM (2013) Rare variant extensions of the transmission disequilibrium test: Application to autism exome sequence data. Am J Hum Genet 94:33-46. PMID:24360806
- Fu W, O’Connor TD, Jun G, Kang HM, Goncalo A, Leal SM, Stacey Gabriel S, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ, Population Genetics Working Group, Broad GO, Seattle GO, NHLBI Exome Sequencing Project, Akey JM (2013) Analysis of 6,515 exomes reveals a very recent origin of most human protein-coding variants. Nature 493:216-20 PMID: 23201682; PMCID (in progress)
- Li B, Leal SM (2008) Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data. Am J Hum Genet 83:311-21 PMID: 18691683; PMCID: PMC2842185
- Li B, Leal SM (2009) Discovery of rare variant via sequencing: Implications for the design of complex trait association studies PLoS Genet 5:e1000481 PMID: 19436704; PMCID: PMC 2674213
- Li B, Wang GT, Leal SM (2012) SimRare: a program to generate and analyze sequence-based data for association studies of quantitative and qualitative traits. Bioinformatics 28:2703-4 PMID: 22914216; PMCID: PMC3467746
- Liu DJ, Leal SM (2010a) 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. PLoS Genet 6(10):e1001156 PMID: 20976247; PMCID: PMC2954824
- Liu DJ, Leal SM (2010b) Replication strategies for rare variant complex trait association studies via next generation sequencing. Am J Hum Genet 87:790-801 PMID: 21129725; PMCID: PMC2997372
- Liu DJ, Leal SM (2012a) SEQCHIP: A powerful method to integrate sequence and genotype data for the detection of rare variant associations. Bioinformatics 28:1745-51 PMID: 22556370; PMCID: PMC3381973
- Liu DJ, Leal SM (2012b) A flexible likelihood framework for mapping secondary phenotypes in genetic studies using selected samples: application to sequence data. Eur J Hum Genet 20:449-56 PMID: 22166943; PMCID: PMC3306858
- Liu DJ, Leal SM (2012c) A unified method for detecting secondary trait associations with rare variants: Application to sequence data. PLoS Genet 8:e1003075 PMID: 23166519; PMCID; PMC3499373
- Liu DJ, Leal SM (2012d) A unified framework for detecting rare variant quantitative trait associations in pedigree and unrelated individuals via sequence data. Hum Hered 73:105-22 PMID: 22555759; PMCID: PMC3369372
- Liu DJ, Leal SM (2012e) Estimating genetic effects and quantifying missing heritability explained by identified rare variant associations. Am J Hum Genet 91:585-96 PMID: 23022102; PMCID: PMC3484659
- O’Connor TD, Fu F, NHLBI GO Exome Sequencing Project2, ESP Population Genetics and Statistical Analysis Working Group, Mychaleckyj JC, Logsdon B, Auer P, Carlson C, Leal SM, Smith J, Rieder M, Bamshad MJ, Nickerson DA, Akey JM (2013): Rare variation facilitates inferences of fine-scale population structure in humans. PLoS One. 8:e65834. PMID:23861739; PMCID: PMC3701690
- Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan A, Basra M, Wasif N, Ayub M, Ali R, Raza S,University of Washington Centre for Mendelian Genomics, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM, Friedman TB (2014) Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J of Hum Genet 94:144-52. PMID: 24387994; PMCID: PMC3882911
- Santos-Cortez RL, Lee K, Azeem Z, Antonellis P, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD, University of Washington Center for Mendelian Genomics, Nickerson DA, McDermott Jr. BM, Ahmad W, Leal SM (2013) Mutations in KARS, encoding Lysyl-tRNA synthetase, cause autosomal recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet 93:132-40. PMID: 23768514; PMCID: PMC3710764
- Santos-Cortez RLP, Lee K, Giese AP, Ansar M, Amin-ud-din M, Rehn K, Xin X, Aziz A, Chiu I, Ali RH, Smith JD, University of Washington Center for Mendelian Genomics, Shendure J, Bamshad M, Nickerson DA, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM (2014) Adenylate Cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Hum Mol Genet 23:3289-98 PMID: 24482543l; PMCID:PMC4030782
- Tennessen JA, Bigham AW, O’Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, Abecasis G, Altschuler D, Nickerson DA, Boerwinkle E, Sunyaev S, Bustamante CD, Bamshad MJ, Akey JM, Broad GO, Seattle GO, on behalf of the NHLBI Exome Sequencing Project (2012) Evolution and functional impact of rare coding variation from deep sequencing of 2,440 human exomes. Science 337:64-9 PMID: 22604720; PMCID: PMC3708544
- Wang GT, Li B, Lyn Santos-Cortez RP, Peng B, Leal SM. (2014a) Power analysis and sample size estimation for sequence-based association studies. Bioinformatics PubMed PMID: 24778108; PMCID: PMC4133582
- Wang GT, Peng B, Leal SM. (2014b) Variant association tools for quality control and analysis of large-scale sequence and genotyping array data. Am J Hum Genet 94:770-83 PMID: 24791902; PMCID:PMC4067555
- Wang GT, Zhang D, Li B, Dai H and Leal SM. (2015) Collapsed haplotype pattern method for linkage analysis of next-generation sequence data. European Journal Of Human Genetics 23:1739–43 PMID: 25873013; PMCID: PMC4795207
Publications
A selected list of publications
- Eichler EE, Flint J, Gibson G, Kong A, Leal SM, Moore JH, Nadeau JH. "Missing heritability and strategies for finding the underlying causes of complex disease.." Nat. Rev. Genet.. 2010 June;11(6):446-50. Pubmed PMID: 20479774
- Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H. "Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.." Am. J. Hum. Genet.. 2010 February 12;86(2):138-47. Pubmed PMID: 20137778
- Li B, Leal SM. "Discovery of rare variants via sequencing: implications for the design of complex trait association studies.." PLoS Genet.. 2009 May;5(5):e1000481. Pubmed PMID: 19436704
- Li B, Leal SM. "Deviations from Hardy-Weinberg equilibrium in parental and unaffected sibling genotype data.." Hum Hered.. 2009;67(2):104-15. Pubmed PMID: 19077427
- Li B, Leal SM. "Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data.." Am. J. Hum. Genet.. 2008 September;83(3):311-21. Pubmed PMID: 18691683
- Li B, Leal SM. "Ignoring intermarker linkage disequilibrium induces false-positive evidence of linkage for consanguineous pedigrees when genotype data is missing for any pedigree member.." Hum. Hered.. 2008;65(4):199-208. Pubmed PMID: 18073490
- Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES. "Genome-wide detection and characterization of positive selection in human populations.." Nature. 2007 October 18;449(7164):913-8. Pubmed PMID: 17943131
- "A second generation human haplotype map of over 3.1 million SNPs.." Nature. 2007 October 18;449(7164):851-61. Pubmed PMID: 17943122
- Leal SM. "Detection of genotyping errors and pseudo-SNPs via deviations from Hardy-Weinberg equilibrium.." Genet. Epidemiol.. 2005 November;29(3):204-14. Pubmed PMID: 16080207
- Leal SM, Yan K, Müller-Myhsok B. "SimPed: a simulation program to generate haplotype and genotype data for pedigree structures.." Hum. Hered.. 2005;60(2):119-22. Pubmed PMID: 16224189
- Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, et al.. "TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.." Am J Hum Genet.. 2013 August 8;93(2):405. Pubmed PMID: 23810381
- Regalado ES, Guo DC, Villamizar C, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Bertoli-Avella AM, Shendure J, Rieder MJ, Nickerson DA. "Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection With Intracranial and Other Arterial Aneurysms.." Circ. Res.. 2011 September 2;109(6):680-6. Pubmed PMID: 21778426
- Lee K, Khan S, Ansar M, Santos-Cortez RLP, Ahmad W, Leal SM.. "Novel ESRRB deletion: rare cause of autosomal recessive nonsyndromic hearing impairment among Pakistani families.." Genet Res Intl.. 2011;2011(368915) Pubmed PMID: 22567352
- Lin D, Gibson IB, Moore JM, Thornton PC, Leal SM, Hastings PJ. "Global chromosomal structural instability in a subpopulation of starving Escherichia coli cells.." PLoS Genet.. 2011 August;7(8):e1002223. Pubmed PMID: 21901104
- Mendoza-Fandino GA, Gee JM, Ben-Dor S, Gonzalez-Quevedo C, Lee K, Kobayashi Y, Hartiala J, Myers RM, Leal SM, Allayee H, Patel PI. "A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.." Clin. Genet.. 2011 September;80(3):265-72. Pubmed PMID: 21443745
- Kuang SQ, Guo DC, Prakash SK, McDonald ML, Johnson RJ, Wang M, Regalado ES, Russell L, Cao JM, Kwartler C, Fraivillig K, Coselli JS, Safi HJ, Estrera AL, Leal SM, Lemaire SA, Belmont JW, Milewicz DM. "Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.." PLoS Genet.. 2011 June;7(6):e1002118. Pubmed PMID: 21698135
- Tomson SN, Avidan N, Lee K, Sarma AK, Tushe R, Milewicz DM, Bray M, Leal SM, Eagleman DM. "The genetics of colored sequence synesthesia: Suggestive evidence of linkage to 16q and genetic heterogeneity for the condition.." Behav. Brain Res.. 2011 September 30;223(1):48-52. Pubmed PMID: 21504763
- Liu DJ, Leal SM. "A unified method for detecting secondary trait associations with rare variants: application to sequence data.." PLoS Genet.. 2012 November;8(11):e1003075. Pubmed PMID: 23166519
- Liu DJ, Leal SM. "A unified framework for detecting rare variant quantitative trait associations in pedigree and unrelated individuals via sequence data.." Hum Hered.. 2012;73(2):105-22. Pubmed PMID: 22555759
- Riazuddin S, Belyantseva IA, Giese1 A, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Shinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Leal, SM, et al.. "Mutations of CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48." Nat Genet.. 2012;44:1265-71. Pubmed PMID: 23023331
- McDonald ML, Macmullen C, Liu DJ, Leal SM, Davis RL. "Genetic association of cyclic AMP signaling genes with bipolar disorder.." Transl Psychiatry. 2012;2:e169. Pubmed PMID: 23032945
- Li B, Wang G, Leal SM. "SimRare: a program to generate and analyze sequence-based data for association studies of quantitative and qualitative traits.." Bioinformatics. 2012 October 15;28(20):2703-4. Pubmed PMID: 22914216
- Liu DJ, Leal SM. "Estimating genetic effects and quantifying missing heritability explained by identified rare-variant associations.." Am. J. Hum. Genet.. 2012 October 5;91(4):585-96. Pubmed PMID: 23022102
- Lee K, Khan S, Islam A, Ansar M, Andrade PB, Kim S, Santos-Cortez RL, Ahmad W, Leal SM. "Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.." Clin. Genet.. 2012 July;82(1):56-63. Pubmed PMID: 21534946
- Cheung YH, Wang G, Leal SM, Wang S. "A fast and noise-resilient approach to detect rare-variant associations with deep sequencing data for complex disorders.." Genet. Epidemiol.. 2012 November;36(7):675-85. Pubmed PMID: 22865616
- Fu W, O'Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, Gabriel S, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ. "Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.." Nature. 2013 January 10;493(7431):216-20. Pubmed PMID: 23201682
- Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT. "Perrault Syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.." Am J Hum Genet.. 2013 April 4;92(4):605-13. Pubmed PMID: 23541340
- Johnsen JM, Auer PL, Morrison AC, Jiao S, Wei P, Haessler J, Fox K, McGee SR, Smith JD, Carlson CS, Smith N, Boerwinkle E, Kooperberg C, Nickerson DA, Rich SS,Green D, Peters U, Cushman M, Reiner AP; NHLBI Exome Sequencing Project.. "Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.." Blood.. 2013;122:590-7. Pubmed PMID: 23690449
- Santos-Cortez RL, Lee K, Azeem Z, Antonellis P, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD, University of Washington Center for Mendelian Genomics, Nickerson DA, McDermott Jr. BM, Ahmad W, Leal SM.. "Mutations in KARS, encoding Lysyl-tRNA synthetase, cause autosomal recessive nonsyndromic hearing impairment DFNB89." Am J Hum Genet.. 2013;93:132-40. Pubmed PMID: 23768514
- Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE; National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project FSPT. "Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy." Circ Cardio Genet. 2013;6:144-53. Pubmed PMID: 23418287
- O’Connor TD, Fu F, NHLBI GO Exome Sequencing Project2, ESP Population Genetics and Statistical Analysis Working Group, Mychaleckyj JC, Logsdon B, Auer P, Carlson C, Leal SM, Smith J, Rieder M, Bamshad MJ, Nickerson DA, Akey JM. "Rare variation facilitates inferences of fine-scale population structure in humans." PLoS One. 2013;8:e65834. Pubmed PMID: 23861739
- Lee K, Chiu I, Santos-Cortez RL, Basit S, Khan S, Azeem Z, Andrade PB, Kim SS, Ahmad W, Leal SM.. "Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families." Clin Genet.. 2013 September;84(3):294-6. Pubmed PMID: 23173898
- Auer PL, Wang G, Leal SM.. "Testing for rare variant associations in the presence of missing data." Genet Epidemiol.. 2013 September;37(6):529-38. Pubmed PMID: 23757187
- Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, . "TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.." Nat Genet.. 2012 August;44(8):916-21. Pubmed PMID: 22772371
- Ng CS, Wu P, Foley J, Foley A, McDonald ML, Juan WT, Huang CJ, Lai YT, Lo WS, Chen CF, Leal SM, Zhang H, Widelitz RB, Patel PI, Li WH, Chuong CM. "The chicken frizzle feather is due to an a-keratin (KRT75) mutation that causes a defective rachis.." PLoS Genet.. 2012 July;8(7):e1002748. Pubmed PMID: 22829773
- Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, Abecasis G, Altshuler D, Nickerson DA, Boerwinkle E, Sunyaev S, Bustamante CD, Bamshad MJ, Akey JM. "Evolution and functional impact of rare coding variation from deep sequencing of human exomes.." Science. 2012 July 6;337(6090):64-9. Pubmed PMID: 22604720
- Liu DJ, Leal SM. "SEQCHIP: a powerful method to integrate sequence and genotype data for the detection of rare variant associations.." Bioinformatics. 2012 July 1;28(13):1745-51. Pubmed PMID: 22556370
- Edelstein LC, Luna EJ, Gibson I, Bray M, Jin Y, Kondkar A, Nagalla S, Hadjout-Rabi N, Smith TC, Covarrubias D, Jones SN, Ahmad F, Kong X, Fang Z, Bergmeier W, Shaw C, Leal SM, Bray PF.. "Platelet supervillin inhibits thrombus formation under shear stress in humans and mice." Circulation. 2012;125:2762-71. Pubmed PMID: 22550155
- Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum . "A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.." Proc. Natl. Acad. Sci. U.S.A.. 2012 May 22;109(21):7974-81. Pubmed PMID: 22566635
- Liu DJ, Leal SM. "A flexible likelihood framework for detecting associations with secondary phenotypes in genetic studies using selected samples: application to sequence data.." Eur. J. Hum. Genet.. 2012 April;20(4):449-56. Pubmed PMID: 22166943
- Mechanic LE, Chen HS, Amos CI, Chatterjee N, Cox NJ, Divi RL, Fan R, Harris EL, Jacobs K, Kraft P, Leal SM, McAllister K, Moore JH, Paltoo DN, Province MA, Ramos EM, Ritchie MD, Roeder K, Schaid DJ, Stephens M, Thomas DC, Weinberg CR, Witte JS, Zhang S, Z. "Next generation analytic tools for large scale genetic epidemiology studies of complex diseases.." Genet. Epidemiol.. 2012 January;36(1):22-35. Pubmed PMID: 22147673
- Lee K, Ansar M, Andrade PB, Khan B, Santos-Cortez RL, Ahmad W, Leal SM. "Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.." Am. J. Med. Genet. A. 2012 February;158(2):315-21. Pubmed PMID: 22246673
- Brautbar A, Covarrubias D, Belmont J, Lara-Garduno F, Virani SS, Jones PH, Leal SM, Ballantyne CM. "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.." Atherosclerosis. 2011 December;219(2):737-42. Pubmed PMID: 21889769
- Ansar M, Lee K, Naqvi SK, Andrade PB, Basit S, Santos-Cortez RL, Ahmad W, Leal SM. "A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.." J. Hum. Genet.. 2011 December;56(12):866-8. Pubmed PMID: 21937999
- Rehman AU, Gul K, Morell RJ, Lee K, Ahmed ZM, Riazuddin S, Ali RA, Shahzad M, Jaleel AU, Andrade PB, Khan SN, Khan S, Brewer CC, Ahmad W, Leal SM, Riazuddin S, Friedman TB. "Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.." Hum. Genet.. 2011 December;130(6):759-65. Pubmed PMID: 21660509
- Lemaire SA, McDonald ML, Guo DC, Russell L, Miller CC, Johnson RJ, Bekheirnia MR, Franco LM, Nguyen M, Pyeritz RE, Bavaria JE, Devereux R, Maslen C, Holmes KW, Eagle K, Body SC, Seidman C, Seidman JG, Isselbacher EM, Bray M, Coselli JS, Estrera AL, Safi H. "Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.." Nat. Genet.. 2011;43(10):996-1000. Pubmed PMID: 21909107
- Ali G, Lee K, Andrade PB, Basit S, Santos-Cortez RL, Chen L, Jelani M, Ansar M, Ahmad W, Leal SM. "Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3." Hum Hered.. 2011;71(2):106-12. Pubmed PMID: 21734401
- Nagalla S, Shaw C, Kong X, Kondkar AA, Edelstein LC, Ma L, Chen J, McKnight GS, López JA, Yang L, Jin Y, Bray MS, Leal SM, Dong JF, Bray PF. "Platelet microRNA-mRNA coexpression profiles correlate with platelet reactivity.." Blood. 2011 May 12;117(19):5189-97. Pubmed PMID: 21415270
- He C, Weeks DE, Buyske S, Abecasis G, Stewart W, Matise TC, and The Enhanced Map Consortium.. "Enhanced genetic maps from family-based disease studies." BMC Med Genet.. 2011;12(15) Pubmed PMID: 21247494
- Vacic V, McCarthy S, Murray F, Cho H-H, Malhotra D, Peoples A, Makarov V, Yoon S, Corominas R, Iakoucheva LM, Krastoshevsky O, Krause V, Welsh DK, Craig D, Kelsoe JR, Gershon ES, Leal SM, Morris DW, Gill, M, Corvin A, Karayiorgou M, Insel PA, et al.. "Genomic duplications and triplications of the neuropeptide receptor VIPR2 confer significant risk for schizophrenia." Nature. 2011;471:499-503. Pubmed PMID: 21346763
- Borck G, Rehman AU, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Web. "Loss-of-function mutations of ILDR1 cause autosomal recessive hearing impairment DFNB42." Am J Hum Genet.. 2011 February 11;88(2):127-37. Pubmed PMID: 21255762
- Basit S, Lee K, Habib R, Chen L. "DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.." Hum. Genet.. 2011 April;129(4):379-85. Pubmed PMID: 21181198
- Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM. "Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in KCNQ4." Arch Otolaryngol Head Neck Surg.. 2011 January;137(1):54-9. Pubmed PMID: 21242547
- Chishti MS, Lee K, McDonald ML, Hassan MJ, Ansar M, Ahmad W, Leal SM. "Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.." J Hum Genet.. 2009 March;54(3):141-4. Pubmed PMID: 19229252
- Ahmed ZM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, Riazuddin S, Friedman TB, Riazuddin S. "Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74." Am J Hum Genet.. 2011 January 7;88(1):19-29. Pubmed PMID: 21185009
- Liu DJ, Leal SM. "Replication strategies for rare variant complex trait association studies via next-generation sequencing." Am. J. Hum. Genet.. 2010 December 10;87(6):790-801. Pubmed PMID: 21129725
- Prakash SK, Lemaire SA, Guo DC, Russell L, Regalado ES, Golabbakhsh H, Johnson RJ, Safi HJ, Estrera AL, Coselli JS, Bray MS, Leal SM, Milewicz DM, Belmont JW. "Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections.." Am J Hum Genet.. 2010 December 10;87(6):743-56. Pubmed PMID: 21092924
- Liu DJ, Leal SM. "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.." PLoS Genet.. 2010;6(10):e1001156. Pubmed PMID: 20976247
- Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccolo P, Van Den Veyver IB, Bacino CA. "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.." Am. J. Med. Genet. A. 2010 July;152(7):1825-31. Pubmed PMID: 20583181
- Hastings PJ, Hersh MN, Thornton PC, Fonville NC, Slack A, Frisch RL, Ray MP, Harris RS, Leal SM, Rosenberg SM. "Competition of Escherichia coli DNA Polymerases I, II and III with DNA Pol IV in Stressed Cells.." PLoS ONE. 2010;5(5):e10862. Pubmed PMID: 20523737
- Kondkar AA, Bray MS, Leal SM, Nagalla S, Liu DJ, Jin Y, Dong JF, Ren Q, Whiteheart SW, Shaw C, Bray PF. "VAMP8/endobrevin is overexpressed in hyperreactive human platelets: suggested role for platelet microRNA.." J. Thromb. Haemost.. 2010 February;8(2):369-78. Pubmed PMID: 19943878
- Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Velásquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, Ghosh M, Wilcox ER, Ahmad W, Merlino G, Leal SM, Riazuddin S, Friedman TB, Morell RJ. "Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.." Am. J. Hum. Genet.. 2009 July;85(1):25-39. Pubmed PMID: 19576567
- McBride KL, Zender GA, Fitzgerald-Butt SM, Koehler D, Menesses-Diaz A, Fernbach S, Lee K, Towbin JA, Leal S, Belmont JW. "Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).." Eur. J. Hum. Genet.. 2009 June;17(6):811-9. Pubmed PMID: 19142209
- Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H. "A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.." Am. J. Hum. Genet.. 2009 February;84(2):274-8. Pubmed PMID: 19200529
- Gajecka M, Radhakrishna U, Winters D, Nath SK, Rydzanicz M, Ratnamala U, Ewing K, Molinari A, Pitarque JA, Lee K, Leal SM, Bejjani BA. "Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.." Invest. Ophthalmol. Vis. Sci.. 2009 April;50(4):1531-9. Pubmed PMID: 19011015
- Covarrubias D, Bai RK, Wong LJ, Leal SM. "Mitochondrial DNA variant interactions modify breast cancer risk.." J. Hum. Genet.. 2008;53(10):924-8. Pubmed PMID: 18709563
- Chishti MS, McDonald M-L, Lee K, Hassan MJ, Ansar M, Ahmad W, Leal SM.. "New autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3." J Hum Genet.. 2009;53:141-4. Pubmed PMID: 19229252
- Oosterhuis BE, LaForge KS, Proudnikov D, Ho A, Nielsen DA, Gianotti R, Barral S, Gordon D, Leal SM, Ott J, Kreek MJ. "Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women.." Am. J. Med. Genet. B Neuropsychiatr. Genet.. 2008 September 5;147(6):793-8. Pubmed PMID: 18270997
- Vrabec JT, Liu L, Li B, Leal SM. "Sequence variants in host cell factor C1 are associated with Ménière's disease.." Otol. Neurotol.. 2008 June;29(4):561-6. Pubmed PMID: 18520591
- Bhatti A, Lee K, McDonald ML, Hassan MJ, Gutala R, Ansar M, Ahmad W, Leal SM. "Mapping of a new autosomal recessive non-syndromic hearing impairment locus (DFNB45) to chromosome 1q43-q44.." Clin. Genet.. 2008 April;73(4):395-8. Pubmed PMID: 18325041
- Chishti MS, Bhatti A, Tamim S, Lee K, M-L McDonald, Leal SM, Ahmad W.. "Novel splice site mutations in TRIC gene underlies autosomal recessive non syndromic hearing impairment in three Pakistani families.." J Hum Genet.. 2008;53:101-5. Pubmed PMID: 18084694
- Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Creme. "Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.." Am. J. Hum. Genet.. 2008 January;82(1):125-38. Pubmed PMID: 18179891
- Frajdenberg A, Pecold K, Podfigurna-Musielak M, Rydzanicz M, Mrugacz M, Leal SM, Bejjani BA, Gajecka M. "[An analysis of the fundus changes in families with high myopia]." Klin Oczna. 2007;109(41370):173-5. Pubmed PMID: 17725279
- Wali A, Ali G, John P, Lee K, Chishti MS, Leal SM, Ahmad W. "Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2.." Ann. Hum. Genet.. 2007 September;71:570-7. Pubmed PMID: 17451405
- Pausova Z, Paus T, Abrahamowicz M, Almerigi J, Arbour N, Bernard M, Gaudet D, Hanzalek P, Hamet P, Evans AC, Kramer M, Laberge L, Leal SM, Leonard G, Lerner J, Lerner RM, Matheiu J, Perron M, Pike B, Pitiot A, Richer L, Seguin JR, Syme C, Toro R, et al.. "Genes, Maternal Smoking and the Offspring Brain and Body during Adolescence: Design of The Saguenay Youth Study. Human Brain Mapping 28:502-18." Hum Brain Mapping. 2007;28:502-18. Pubmed PMID: 17469173
- Bai RK, Leal SM, Covarrubias D, Liu A, Wong LJ. "Mitochondrial genetic background modifies breast cancer risk.." Cancer Res.. 2007 May 15;67(10):4687-94. Pubmed PMID: 17510395
- Mendoza G, Pemberton TJ, Lee K, Scarel-Caminaga R, Mehrian-Shai R, Gonzalez-Quevedo C, Ninis V, Hartiala J, Allayee H, Snead ML, Leal SM, Line SR, Patel PI. "A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.." Hum. Genet.. 2007 January;120(5):653-62. Pubmed PMID: 17024372
- Naeem M, Jelani M, Lee K, Ali G, Chishti MS, Wali A, Gul A, John P, Hassan MJ, Leal SM, Ahmad W. "Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.." Br. J. Dermatol.. 2006 December;155(6):1184-90. Pubmed PMID: 17107387
- Wali A, John P, Gul A, Lee K, Chishti MS, Ali G, Hassan MJ, Leal SM, Ahmad W. "A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.." Clin. Genet.. 2006 September;70(3):233-9. Pubmed PMID: 16922726
- Santos RL, Hassan MJ, Sikandar S, Lee K, Ali G, Martin PE, Wambangco MA, Ahmad W, Leal SM. "DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.." Hum. Genet.. 2006 August;120(1):85-92. Pubmed PMID: 16703383
- Wang QJ, Li QZ, Rao SQ, Lee K, Huang XS, Yang WY, Zhai SQ, Guo WW, Guo YF, Yu N, Zhao YL, Yuan H, Guan J, Leal SM, Han DY, Shen Y. "AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.." J. Med. Genet.. 2006 July;43(7):e33. Pubmed PMID: 16816020
- Tariq A, Santos RL, Khan MN, Lee K, Hassan MJ, Ahmad W, Leal SM. "Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.." J. Mol. Med.. 2006 June;84(6):484-90. Pubmed PMID: 16596430
- Santos RL, Häfner FM, Huygen PL, Linder TE, Schinzel AA, Spillmann T, Leal SM. "Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.." Audiol. Neurootol.. 2006;11(5):269-75. Pubmed PMID: 16717440
- El-Shanti H, Daoud A, Sadoon AA, Leal SM, Chen S, Lee K, Spiegel R. "A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.." Brain Dev.. 2006 July;28(6):353-7. Pubmed PMID: 16376507
- Naeem M, Wajid M, Lee K, Leal SM, Ahmad W. "A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.." J. Med. Genet.. 2006 March;43(3):274-9. Pubmed PMID: 16525032
- Santos RL, El-Shanti H, Sikandar S, Lee K, Bhatti A, Yan K, Chahrour MH, McArthur N, Pham TL, Mahasneh AA, Ahmad W, Leal SM. "Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.." J. Mol. Med.. 2006 March;84(3):226-31. Pubmed PMID: 16389551
- Mims MP, Hayes TG, Zheng S, Leal SM, Frolov A, Ittmann MM, Wheeler TM, Prchal JT. "Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women.." Cancer Res.. 2006 February 1;66(3):1880; author re. Pubmed PMID: 16452251
- John P, Ali G, Chishti MS, Naqvi SMS, Leal SM, Ahmad W.. "A novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3." Hum Genet.. 2006;118:665-7. Pubmed PMID: 16273389
- Hassan MJ, Santos RL, Rafiq MA, Chahrour MH, Pham TL, Wajid M, Hijab N, Wambangco M, Lee K, Ansar M, Yan K, Ahmad W, Leal SM. "A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.." Hum. Genet.. 2006 January;118(5):605-10. Pubmed PMID: 16261342
- Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P; International HapMap Consortium. "A haplotype map of the human genome.." Nature. 2005;437:1299-320. Pubmed PMID: 16255080
- Yu F, Sabeti PC, Hardenbol P, Fu Q, Fry B, Lu X, Ghose S, Vega R, Perez A, Pasternak S, Leal SM, Willis TD, Nelson DL, Belmont J, Gibbs RA. "Positive selection of a pre-expansion CAG repeat of the human SCA2 gene.." PLoS Genet.. 2005 September;1(3):e41. Pubmed PMID: 16205789
- Santos RL, Wajid M, Khan MN, McArthur N, Pham TL, Bhatti A, Lee K, Irshad S, Mir A, Yan K, Chahrour MH, Ansar M, Ahmad W, Leal SM. "Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.." Hum. Mutat.. 2005 October;26(4):396. Pubmed PMID: 16134132
- Irshad S, Santos RL, Muhammad D, Lee K, McArthur N, Haque S, Ahmad W, Leal SM. "Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.." Clin. Genet.. 2005 September;68(3):262-7. Pubmed PMID: 16098016
- Sobngwi E, Gautier JF, Kevorkian JP, Villette JM, Riveline JP, Zhang S, Vexiau P, Leal SM, Vaisse C, Mauvais-Jarvis F. "High prevalence of glucose-6-phosphate dehydrogenase deficiency without gene mutation suggests a novel genetic mechanism predisposing to ketosis-prone diabetes.." J. Clin. Endocrinol. Metab.. 2005 August;90(8):4446-51. Pubmed PMID: 15914531
- Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H. "Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).." J. Med. Genet.. 2005 July;42(7):551-7. Pubmed PMID: 15994876
- McBride KL, Pignatelli R, Lewin M, Ho T, Fernbach S, Menesses A, Lam W, Leal SM, Kaplan N, Schliekelman P, Towbin JA, Belmont JW. "Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.." Am. J. Med. Genet. A. 2005 April 15;134(2):180-6. Pubmed PMID: 15690347
- Mir A, Ansar M, Chahrour MH, Pham TL, Wajid M, Haque S, Yan K, Ahmad W, Leal SM. "Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31.." Am. J. Med. Genet. A. 2005 February 15;133(1):23-6. Pubmed PMID: 15637723
- Aslam M, Wajid M, Chahrour MH, Ansar M, Haque S, Pham TL, Santos RP, Yan K, Ahmad W, Leal SM. "A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.." Am. J. Med. Genet. A. 2005 February 15;133(1):18-22. Pubmed PMID: 15641023
- Santos RL, Wajid M, Pham TL, Hussan J, Ali G, Ahmad W, Leal SM. "Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.." Clin. Genet.. 2005 January;67(1):61-8. Pubmed PMID: 15617550
- Kaunisto MA, Tikka PJ, Kallela M, Leal SM, Papp JC, Korhonen A, Hämäläinen E, Harno H, Havanka H, Nissilä M, Säkö E, Ilmavirta M, Kaprio J, Färkkilä M, Ophoff RA, Palotie A, Wessman M. "Chromosome 19p13 loci in Finnish migraine with aura families.." Am. J. Med. Genet. B Neuropsychiatr. Genet.. 2005 January 5;132(1):85-9. Pubmed PMID: 15449251
- Bulayeva KB, Leal SM, Pavlova TA, Kurbanov RM, Glatt SJ, Bulayev OA, Tsuang MT. "Mapping genes of complex psychiatric diseases in Daghestan genetic isolates.." Am. J. Med. Genet. B Neuropsychiatr. Genet.. 2005 January 5;132(1):76-84. Pubmed PMID: 15389762
- Yuferov V, Fussell D, LaForge KS, Nielsen DA, Gordon D, Ho A, Leal SM, Ott J, Kreek MJ. "Redefinition of the human kappa opioid receptor gene (OPRK1) structure and association of haplotypes with opiate addiction.." Pharmacogenetics. 2004 December;14(12):793-804. Pubmed PMID: 15608558
- Ansar M, Chahrour MH, Amin Ud Din M, Arshad M, Haque S, Pham TL, Yan K, Ahmad W, Leal SM. "DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22.." Hum. Hered.. 2004;57(4):195-9. Pubmed PMID: 15583425
- Mauvais-Jarvis F, Smith SB, Le May C, Leal SM, Gautier JF, Molokhia M, Riveline JP, Rajan AS, Kevorkian JP, Zhang S, Vexiau P, German MS, Vaisse C. "PAX4 gene variations predispose to ketosis-prone diabetes.." Hum. Mol. Genet.. 2004 December 15;13(24):3151-9. Pubmed PMID: 15509590
- Rafiq MA, Ansar M, Haque S, Leal SM, Ahmad W. "Recurrent EX5_8del mutation in DSG4 gene in three Pakistani families showing autosomal recessive hypotrichosis." J Invest Dermatol.. 2004;123:247-54. Pubmed PMID: 15191570
- Rafiq MA, Ansar M, Pham T, Amin-ud-Din M, Anwar M, Haque S, Chahrour MH, Yan K, Leal SM, Ahmad W. "Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3.." Clin. Genet.. 2004 July;66(1):73-8. Pubmed PMID: 15200512
- Bart G, Heilig M, LaForge KS, Asberg M, Polk L, Leal SM, Ott J, Kreek MJ. "Association between a functional polymorphism in the mu-opioid receptor gene and opiate dependence in central Sweden." Mol Psychiatry. 2004;9:547-9. Pubmed PMID: 15037869
- Li TT, Larrucea S, Souza S, Leal SM, López JA, Rubin EM, Nieswandt B, Bray PF. "Genetic variation responsible for mouse strain differences in integrin alpha 2 expression is associated with altered platelet responses to collagen.." Blood. 2004 May 1;103(9):3396-402. Pubmed PMID: 14739220
- Buchinsky FJ, Derkay CS, Leal SM, Donfack J, Ehrlich GD, Post JC. "Multicenter initiative seeking critical genes in respiratory papillomatosis.." Laryngoscope. 2004 February;114(2):349-57. Pubmed PMID: 14755217
- Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH. "Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).." Am. J. Hum. Genet.. 2003 November;73(5):1082-91. Pubmed PMID: 13680526
- Wajid M, Abbasi AA, Ansar M, Pham TL, Yan K, Haque S, Ahmad W, Leal SM. "DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12.." Eur. J. Hum. Genet.. 2003 October;11(10):812-5. Pubmed PMID: 14512973
- Ali G, Santos RLP, John P, Lee K, Ahmad W, Leal SM.. "The Mapping of DFNB62, a New Locus for Autosomal Recessive Non-syndromic Hearing Impairment, to Chromosome 12p13.2-p11.23." Clin Genet.. 2006;69:429-33. Pubmed PMID: 16650082
- Rafique MA, Ansar M, Jamal SM, Malik S, Sohail M, Faiyaz-Ul-Haque M, Haque S, Leal SM, Ahmad W. "A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.." Eur. J. Hum. Genet.. 2003 August;11(8):623-8. Pubmed PMID: 12891384
- Ansar M, Ramzan M, Pham TL, Yan K, Jamal SM, Haque S, Ahmad W, Leal SM. "Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan.." Hum. Hered.. 2003;55(1):71-4. Pubmed PMID: 12890929
- Leal SM. "Genetic maps of microsatellite and single-nucleotide polymorphism markers: are the distances accurate?." Genet. Epidemiol.. 2003 May;24(4):243-52. Pubmed PMID: 12687641
- Lesperance MM, Hall JW, San Agustin TB, Leal SM. "Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss.." Arch. Otolaryngol. Head Neck Surg.. 2003 April;129(4):411-20. Pubmed PMID: 12707187
- Bulaeva KB, Pavlova TA, Kurbanov RM, Leal S, Bulaev OA. "[Genetic and epidemiological studies in Dagestan highland isolates]." Genetika. 2003 March;39(3):413-22. Pubmed PMID: 12722642
- Lee K, Amin Ud Din M, Ansar M, Santos-Cortez RL, Ahmad W, Leal SM. "Autosomal recessive nonsyndromic hearing impairment due to a novel deletion in the RDX gene.." Genet Res Int. 2011;2011:294675. Pubmed PMID: 22567349
- Das P, Hai M, Elcock C, Leal SM, Brown DT, Brook AH, Patel PI. "Novel missense mutations and a 288 bp exonic insertion in the PAX9 gene in families with autosomal dominant hypodontia." Am J Med Genet.. 2003;118:35-42. Pubmed PMID: 12605438
- DeWan AT, Parrado AR, Leal SM. "A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval.." Clin. Genet.. 2003 January;63(1):39-45. Pubmed PMID: 12519370
- Varga R, Kelley PM, Keats BJ, Starr A, Leal SM, Cohn E, Kimberling WJ. "Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.." J. Med. Genet.. 2003 January;40(1):45-50. Pubmed PMID: 12525542
- DeWan AT, Parrado AR, Matise TC, Leal SM. "Map error reduction: using genetic and sequence-based physical maps to order closely linked markers.." Hum. Hered.. 2002;54(1):34-44. Pubmed PMID: 12446985
- Baala L, Hadj-Rabia S, Hamel-Teillac D, Hadchouel M, Prost C, Leal SM, Jacquemin E, Sefiani A, De Prost Y, Courtois G, Munnich A, Lyonnet S, Vabres P. "Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.." J. Invest. Dermatol.. 2002 July;119(1):70-6. Pubmed PMID: 12164927
- Chen ACH, Laforge KS, Ho A, McHugh PF, Kellog S, Bell K, Schluger RP, Leal SM, Kreek MJ.. "A potentially functional polymorphism in the promoter region of prodynorphin gene may be associated with protection against cocaine dependence or abuse." Am J Med Genet.. 2002;114:429-35. Pubmed PMID: 11992566
- Wessman M, Kallela M, Kaunisto MA, Marttila P, Sobel E, Hartiala J, Oswell G, Leal SM, Papp JC, Hämäläinen E, Broas P, Joslyn G, Hovatta I, Hiekkalinna T, Kaprio J, Ott J, Cantor RM, Zwart JA, Ilmavirta M, Havanka H, Färkkilä M, Peltonen L, Palotie A. "A susceptibility locus for migraine with aura, on chromosome 4q24.." Am. J. Hum. Genet.. 2002 March;70(3):652-62. Pubmed PMID: 11836652
- DeWan AT, Parrado AR, Matise TC, Leal SM. "The map problem: a comparison of genetic and sequence-based physical maps.." Am. J. Hum. Genet.. 2002 January;70(1):101-7. Pubmed PMID: 11706388
- Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, Shanks CA, Gregg G, Al-Lozi MT, Miller T, Rakowicz W, Lopate G, Florence J, Glosser G, Simmons Z, Morris JC, Whyte MP, Pestronk A, Kimonis VE. "Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.." Mol. Genet. Metab.. 2001 December;74(4):458-75. Pubmed PMID: 11749051
- Wille A, Leal SM. "Novel selection criteria for genome scans of complex traits.." Genet. Epidemiol.. 2001;21:S800-4. Pubmed PMID: 11793781
- Cigler T, LaForge KS, McHugh PF, Kapadia SU, Leal SM, Kreek MJ. "Novel and previously reported single-nucleotide polymorphisms in the human 5-HT(1B) receptor gene: no association with cocaine or alcohol abuse or dependence.." Am. J. Med. Genet.. 2001 August 8;105(6):489-97. Pubmed PMID: 11496363
- Kimonis VE, Kovach MJ, Waggoner B, Leal S, Salam A, Rimer L, Davis K, Khardori R, Gelber D. "Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone.." Genet. Med.. 2(4):232-41. Pubmed PMID: 11252708
- Bulayeva KB, Leal SM, Pavlova TA, Kurbanov, Coover S, Bulayev O, Byerley W.. "The genetic epidemiology of schizophrenia in highland isolates of Daghestan (Northern Caucasus, Russia)." Am J Med Genet.. 2000;10:67-72. Pubmed PMID: 10994643
- Hu FZ, Preston RA, Post JC, White GJ, Kikuchi LW, Wang X, Leal SM, Levenstien MA, Ott J, Self TW, Allen G, Stiffler RS, McGraw C, Pulsifer-Anderson EA, Ehrlich GD. "Mapping of a gene for severe pediatric gastroesophageal reflux to chromosome 13q14.." JAMA. 2000 July 19;284(3):325-34. Pubmed PMID: 10891964
- Salam AA, Häfner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM. "A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.." Am. J. Hum. Genet.. 2000 June;66(6):1984-8. Pubmed PMID: 10777717
- Häfner FM, Salam AA, Linder TE, Balmer D, Baumer A, Schinzel AA, Spillmann T, Leal SM. "A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred.." Am. J. Hum. Genet.. 2000 April;66(4):1437-42. Pubmed PMID: 10739769
- Leal SM, Ott J. "Effects of stratification in the analysis of affected-sib-pair data: benefits and costs.." Am. J. Hum. Genet.. 2000 February;66(2):567-75. Pubmed PMID: 10677317
- Gordon D, Leal SM, Heath SC, Ott J. "An analytic solution to single nucleotide polymorphism error-detection rates in nuclear families: implications for study design.." Pac Symp Biocomput. 2000:663-74. Pubmed PMID: 10902214
- Alkhateeb A, al-Alami J, Leal SM, el-Shanti H, Alkbateeb A. "Fine mapping of progressive pseudorheumatoid dysplasia: a tool for heterozygote identification.." Genet. Test.. 1999;3(4):329-33. Pubmed PMID: 10627939
- Leal SM, Heath SC. "Searching for alcoholism susceptibility genes using Markov chain Monte Carlo methods.." Genet. Epidemiol.. 1999;17:S217-22. Pubmed PMID: 10597439
- Chung WK, Luke A, Cooper RS, Rotini C, Vidal-Puig A, Rosenbaum M, Gordon D, Leal SM, Caprio S, Goldsmith R, Andreu AL, Bruno C, DiMauro S, Heo M, Lowe WL, Lowell BB, Allison DB, Leibel RL. "The long isoform uncoupling protein-3 (UCP3L) in human energy homeostasis.." Int. J. Obes. Relat. Metab. Disord.. 1999 June;23:S49-50. Pubmed PMID: 10454123
- Chung WK, Luke A, Cooper RS, Rotini C, Vidal-Puig A, Rosenbaum M, Chua M, Solanes G, Zheng M, Zhao L, LeDuc C, Eisberg A, Chu F, Murphy E, Schreier M, Aronne L, Caprio S, Kahle B, Gordon D, Leal SM, Goldsmith R, Andreu AL, Bruno C, DiMauro S, Leibel RL. "Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasis.." Diabetes. 1999 September;48(9):1890-5. Pubmed PMID: 10480626
- Winick JD, Blundell ML, Galke BL, Salam AA, Leal SM, Karayiorgou M. "Homozygosity mapping of the Achromatopsia locus in the Pingelapese.." Am. J. Hum. Genet.. 1999 June;64(6):1679-85. Pubmed PMID: 10330355
- Apaydin F, Pfister M, Iber M, Kandogan T, Leal SM, Brändle U, Cura O, Zenner HP. "[Hereditary deafness in Turkey. Initial results]." HNO. 1998 September;46(9):809-14. Pubmed PMID: 9816535
- Leal SM, Apaydin F, Barnwell C, Iber M, Kandogan T, Pfister M, Braendle U, Cura O, Schwalb M, Zenner HP, Vitale E. "A second middle eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9.." Eur. J. Hum. Genet.. 6(4):341-4. Pubmed PMID: 9781041
- Scott WK, Speer MC, Leal SM, Brzustowicz LM, Haynes CS, Pericak-Vance MA. "False positive rates in a genomic screen for complex quantitative traits.." Genet. Epidemiol.. 1997;14(6):891-6. Pubmed PMID: 9433596
- Leal SM, Ott J. "Analysis of two-locus traits under heterogeneity for recessive versus dominant inheritance.." Genet. Epidemiol.. 1997;14(6):1097-100. Pubmed PMID: 9433630
- Wilhelmsen K, Mirel D, Marder K, Bernstein M, Naini A, Leal SM, Cote LJ, Tang MX, Freyer G, Graziano J, Mayeux R. "Is there a genetic susceptibility locus for Parkinson's disease on chromosome 22q13?." Ann. Neurol.. 1997 June;41(6):813-7. Pubmed PMID: 9189044
- Peters U, Senger G, Rählmann M, Du Chesne I, Stec I, Köhler MR, Weissenbach J, Leal SM, Koch HG, Deufel T, Harms E. "Nephropathic cystinosis (CTNS-LSB): construction of a YAC contig comprising the refined critical region on chromosome 17p13.." Eur. J. Hum. Genet.. 5(1):41531. Pubmed PMID: 9156315
- Ranta S, Lehesjoki AE, Hirvasniemi A, Weissenbach J, Ross B, Leal SM, de la Chapelle A, Gilliam TC. "Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.." Genome Res.. 1996 May;6(5):351-60. Pubmed PMID: 8743986
- Musarella MA, Anson-Cartwright L, Leal SM, Gilbert LD, Worton RG, Fishman GA, Ott J. "Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families.." Genomics. 1990 October;8(2):286-96. Pubmed PMID: 1979051
- Medori R, Tritschler HJ, LeBlanc A, Villare F, Manetto V, Chen HY, Xue R, Leal S, Montagna P, Cortelli P. "Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene.." N. Engl. J. Med.. 1992 February 13;326(7):444-9. Pubmed PMID: 1346338
- Petersen RB, Tabaton M, Berg L, Schrank B, Torack RM, Leal S, Julien J, Vital C, Deleplanque B, Pendlebury WW. "Analysis of the prion protein gene in thalamic dementia.." Neurology. 1992 October;42(10):1859-63. Pubmed PMID: 1357593
- Leal SM, Ott J. "A bootstrap approach to estimating power for linkage heterogeneity.." Genet. Epidemiol.. 1993;10(6):465-70. Pubmed PMID: 8314045
- Leal SM, Ott J. "A likelihood approach to calculating risk support intervals.." Am. J. Hum. Genet.. 1994 May;54(5):913-7. Pubmed PMID: 8178830
- Leal SM, Ott J. "Variability of genotype-specific penetrance probabilities in the calculation of risk support intervals.." Genet. Epidemiol.. 1995;12(6):859-62. Pubmed PMID: 8788022
- Apaydin F, Leal SM, Iber M, Kandogan T, Braendle U, Cura O, Zenner H-P. "Nonsyndromic Genetik Isitme Kaybe (Nonsyndromic genetic hearing loss)." Türk Otolarengolojii Arsivi. 1995;33:151-4.
- Wang L, Yamaguchi S, Burstein MD, Terashima K, Chang K, Ng HK, Nakamura H, He Z, Doddapaneni H, Lewis L, Wang M, Suzuki T, Nishikawa R, Natsume A, Terasaka S, Dauser R, Whitehead W, Adekunle A, Sun J, Qiao Y, Marth G, Muzny DM, Gibbs RA, Leal SM, et al.. "Novel somatic and germline mutations in intracranial germ cell tumours." Nature. 2014 July 10;511(7508):241-5. Pubmed PMID: 24896186
- Li B, Wang G, Leal SM.. "PhenoMan: phenotypic data exploration, selection, management and quality control for association studies of rare and common variants." Bioinformatics. 2014 February 1;30(3):442-4. Pubmed PMID: 24336645
- Leal SM. "Phenotypes and genetic analysis of psychiatric and neuropsychiatric traits.." Am. J. Med. Genet.. 2001 January 8;105(1):41371. Pubmed PMID: 11424993
- He Z, O'Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RL, Li B, Kan M, Krumm N, Nickerson DA, Shendure J, Eichler EE, Leal SM.. "Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.." Am J Hum Genet.. 2014 January 2;94(1):33-46. Pubmed PMID: 24360806
- Bond C, Laforge KS, Tian M, Melia D, Zhang S, Borg L, Gong J, Schluger J, Strong JA, Leal SM, Tischfield JA, Kreek MJ, Yu L.. "Variation in receptor function from a single nucleotide polymorphism in the human mu opioid receptor gene: possible implications for opioid addiction." Proc Natl Acad Sci USA. 1998;95:9608-13. Pubmed PMID: 9689128
- Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang ZZ, Bizon C, Lange EM, Smith JD, Turner EH, Jun G, Kang HM, Peloso G, Auer P, Li KP, Flannick J, Zhang J, Fuchsberger C, Gaulton K, Lindgren C, Locke A, Manning A, Sim X, Rivas MA, Holmen OL, et al.. "Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.." Am J Hum Genet.. 2014 February 6;94(2):233-45. Pubmed PMID: 24507775
- Wang G, Li B, Santos-Cortez RL, Peng B, Leal SM.. "Statistical power analysis for sequence based association studies.." Bioinformatics. 2014;30:2377-8. Pubmed PMID: 24778108
- MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA et al. "Guidelines for investigating causality of sequence variants in human disease.." Nature. 2014 April 24;508(7497):469-76. Pubmed PMID: 24759409
- Santos-Cortez RL, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Hussain Ali R, Smith JD; University of Washington Center for Mendelian Genomics, Shendure J, Bamshad M, Nickerson DA, Ahmed ZM, Ahmad W, Riazuddin S,, Leal, SM.. "Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.." Hum Mol Genet.. 2014 June 15;23(12):3289-98. Pubmed PMID: 24482543
- Leal SM. "A tribute to Marcy Carlson Speer, 1959-2007.." PLoS Genet.. 2007 December 28;3(12):e230. Pubmed PMID: 18166082
- Bespalova IN, Van Camp G, Bom SJ, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HP, Kurnool P, Sivakumaran TA, Cremers CW, Leal SM, Burmeister M, Lesperance MM. "Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.." Hum. Mol. Genet.. 2001 October 15;10(22):2501-8. Pubmed PMID: 11709537
- Schick UM, Auer PL, Bis JC, Lin H, Wei P, Pankratz N, Lange LA, Kim DS, Carlson CS, Fornage M, Hsu L, Jackson RD, Kooperberg C, Leal SM, Psaty BM, Boerwinkle E, Tracy R, Gabriel SB, Gibbs R, Nickerson DA, Peters U, Dupuis J, Wilson JG, Rich SS, et al.. "Association of exome sequencing variants with CRP levels in European Americans and African Americans: Meta-analysis of results from NHLBI-ESP and CHARGE-S Human Molecular Genetics." Hum Mol Genet.. 2014 September 3 Pubmed PMID: 25187575
Contact Information
Leal Lab
- Address: 622 W. 168th St, 19th floor, New York, NY 10032
- Email: sml3 [at] cumc.columbia.edu