Kwanghyuk Lee

D. Nickerson, S. Leal, M. Bamshad, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

S. Leal, J. Belmont, J. Towbin, 2009, European Journal of Human Genetics.

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

J. Shendure, D. Nickerson, S. Leal, 2016, BMC Medical Genetics.

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

S. Leal, C. Cremers, J. Veltman, 2010, American journal of human genetics.

Myelin Protein Zero (MPZ) Gene Analysis in Korean Patients with Charcot-Marie-Tooth- Clinical and Electrophysiological Characteristics -

Byung-Ok Choi, H. Cho, K. Chung, 2005 .

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

S. Leal, W. Ahmad, R. Santos-Cortez, 2012, American journal of medical genetics. Part A.

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

S. Leal, Sarah B. Emery, M. Lesperance, 2011, Archives of otolaryngology--head & neck surgery.

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

D. Nickerson, S. Leal, M. Bamshad, 2017, International journal of dermatology.

Mutation of ATF6 causes autosomal recessive achromatopsia

J. Shendure, D. Nickerson, S. Leal, 2015, Human Genetics.

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

S. Leal, N. Brunetti‐Pierri, C. Bacino, 2010, American journal of medical genetics. Part A.

Functional variants identify sex-specific genes and pathways in Alzheimer’s Disease

O. Lichtarge, J. Botas, Panagiotis Katsonis, 2023, Nature communications.

Novel missense and 3’-UTR splice site variants in LHFPL5 cause autosomal recessive non-syndromic hearing impairment

S. Leal, S. Basit, W. Ahmad, 2018, Journal of Human Genetics.

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

S. Leal, W. Ahmad, S. Khan, 2011, Genetics research international.

An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family

David R. Murdock, S. Leal, M. Bamshad, 2023, Clinical genetics.

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

David M. Eagleman, Suzanne M. Leal, S. Leal, 2011, Behavioural Brain Research.

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

S. Leal, Shaheen S. Sikandar, A. Bhatti, 2006, Journal of Molecular Medicine.

Evolutionary Action–Machine Learning Model Identifies Candidate Genes Associated With Early‐Onset Coronary Artery Disease

O. Lichtarge, T. Bourquard, Kwanghyuk Lee, 2023, Journal of the American Heart Association.

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

Suzanne M. Leal, S. Leal, W. Ahmad, 2011, Genetics research international.

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

S. Leal, W. Ahmad, M. Ansar, 2009, Journal of Human Genetics.

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

W. Ahmad, R. Santos-Cortez, M. Ansar, 2012, Clinical genetics.

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

J. Shendure, D. Nickerson, S. Leal, 2015, Journal of Medical Genetics.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

G. P. Sinha, S. Leal, M. Tekin, 2012, Nature Genetics.

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

S. Leal, D. Eagleman, D. Milewicz, 2011, Behavioural Brain Research.

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

S. Leal, W. Ahmad, R. Santos-Cortez, 2011, Genetics research international.

The genetics of colored sequence synesthesia: Evidence of linkage to chromosome 16q and genetic heterogeneity for the condition

S. Leal, D. Eagleman, D. Milewicz, 2009 .