A tribute to Marcy Carlson Speer, 1959-2007.

by Suzanne M Leal
Published 2007-12-01

Discovery of rare variants via sequencing: implications for the design of complex trait association studies.

by Bingshan Li, Suzanne M Leal
Published 2009-05-01

A unified method for detecting secondary trait associations with rare variants: application to sequence data.

by Dajiang J Liu, Suzanne M Leal
Published 2012-01-01

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.

by Dajiang J Liu, Suzanne M Leal
Published 2010-10-01

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

by Elnaz Naderi, Diana M. Cornejo-Sanchez, Guangyou Li, Isabelle Schrauwen, Gao T. Wang, Andrew T. Dewan, Suzanne M. Leal, Suzanne M. Leal
Published 2023-02-01

Variants in JAZF1 are associated with asthma, type 2 diabetes, and height in the United Kingdom biobank population

by Andrew T. DeWan, Megan E. Cahill, Diana M. Cornejo-Sanchez, Yining Li, Zihan Dong, Tabassum Fabiha, Hao Sun, Gao Wang, Suzanne M. Leal, Suzanne M. Leal
Published 2023-06-01

Comparison of multiple imputation and other methods for the analysis of imputed genotypes

by Paul L. Auer, Gao Wang, Guangyou Li, Andrew T. DeWan, Suzanne M. Leal
Published 2023-06-01

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

by Nathan R. Lindquist, Eric N. Appelbaum, Anushree Acharya, Jeffrey T. Vrabec, Suzanne M. Leal, Isabelle Schrauwen
Published 2019-01-01

Global chromosomal structural instability in a subpopulation of starving Escherichia coli cells.

by Dongxu Lin, Ian B Gibson, Jessica M Moore, P C Thornton, Suzanne M Leal, P J Hastings
Published 2011-08-01

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

by Isabelle Schrauwen, Khurram Liaqat, Isabelle Schatteman, Thashi Bharadwaj, Abdul Nasir, Anushree Acharya, Wasim Ahmad, Guy Van Camp, Suzanne M. Leal
Published 2020-06-01

Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family

by Khurram Liaqat, Shabir Hussain, Anushree Acharya, Abdul Nasir, Thashi Bharadwaj, Muhammad Ansar, Sulman Basit, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal
Published 2022-04-01

Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders

by Hannaleena Kokkonen, Auli Siren, Tuomo Määttä, Magda Kamila Kadlubowska, Anushree Acharya, Liz M. Nouel‐Saied, Suzanne M. Leal, Irma Järvelä, Isabelle Schrauwen
Published 2021-12-01

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant

by Thashi Bharadwaj, Isabelle Schrauwen, Anushree Acharya, Liz M. Nouel‐Saied, Marja‐Leena Väisänen, Minna Kraatari, Elisa Rahikkala, Irma Jarvela, Jouko Kotimäki, Suzanne M. Leal
Published 2022-03-01

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

by Elina Kari, Lorida Llaci, John L. Go, Marcus Naymik, James A. Knowles, Suzanne M. Leal, Sampath Rangasamy, Matthew J. Huentelman, Rick A. Friedman, Isabelle Schrauwen
Published 2019-12-01

Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction

by Nadia Farooqi, Louise A. Metherell, Isabelle Schrauwen, Anushree Acharya, Qayum Khan, Liz M. Nouel Saied, Yasir Ali, Hamed A. El-Serehy, Fazal Jalil, Suzanne M. Leal
Published 2021-11-01

Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology

by Lorraine N. Clark, Yizhe Gao, Gao T. Wang, Nora Hernandez, Allison Ashley-Koch, Joseph Jankovic, Ruth Ottman, Suzanne M. Leal, Sandra M. Barral Rodriguez, Elan D. Louis
Published 2022-11-01

Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

by Isabelle Schrauwen, Yasmin Rajendran, Anushree Acharya, Susanna Öhman, Maria Arvio, Ritva Paetau, Auli Siren, Kristiina Avela, Johanna Granvik, Suzanne M. Leal, Tuomo Määttä, Hannaleena Kokkonen, Irma Järvelä
Published 2024-05-01

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

by Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Kevin Esoh, Anushree Acharya, Thashi Bharadwaj, Nicole S. Lin, Lucas Amenga-Etego, Gordon A. Awandare, Isabelle Schrauwen, Suzanne M. Leal, Ambroise Wonkam
Published 2022-11-01

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

by Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Khadim Shah, Wasim Ahmad, Suzanne M. Leal
Published 2018-07-01

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

by Edmond Wonkam-Tingang, Isabelle Schrauwen, Kevin K. Esoh, Thashi Bharadwaj, Liz M. Nouel-Saied, Anushree Acharya, Abdul Nasir, Samuel M. Adadey, Shaheen Mowla, Suzanne M. Leal, Ambroise Wonkam
Published 2020-10-01