Shengru Guo

发表

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

M. Tekin, Megan McSherry, Katherine E. Masih, 2018, PloS one.

Sequencing of Linkage Region on Chromosome 12p11 Identifies PKP2 as a Candidate Gene for Left Ventricular Mass in Dominican Families

R. Sacco, M. D. Di Tullio, S. Blanton, 2017, G3: Genes, Genomes, Genetics.

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

M. Tekin, X. Liu, S. Blanton, 2016, Human Genetics.

Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior

Brendan P. Zietsch, Robert M. Maier, A. Auton, 2019, Science.

Long-range cis-regulatory elements controlling GDF6 expression are essential for cochlear development.

D. Dykxhoorn, M. Tekin, C. Morton, 2020, The Journal of clinical investigation.

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

K. Steel, N. Ingham, I. Karakikes, 2022, Proceedings of the National Academy of Sciences of the United States of America.

Linkage and association of successful aging to the 6q25 region in large Amish kindreds

J. Gilbert, J. Haines, M. Pericak-Vance, 2012, AGE.

Rare Variants in NOD1 Associated with Carotid Bifurcation Intima-Media Thickness in Dominican Republic Families

R. Sacco, S. Blanton, T. Rundek, 2016, PloS one.

Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida

W. Scott, F. B. Cengiz, Serhat Seyhan, 2020 .

Novel EYA1 variants causing Branchio-oto-renal syndrome.

M. Tekin, R. Maroofian, N. Elçioglu, 2017, International journal of pediatric otorhinolaryngology.

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

S. Blanton, T. Haaf, R. Maroofian, 2018, Human Genetics.

Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida

M. Tekin, W. Scott, Serhat Seyhan, 2020, Genes.

Human genetic variation in GLS2 is associated with development of complicated Staphylococcus aureus bacteremia

H. Ullum, D. Dykxhoorn, D. Cyr, 2018, PLoS genetics.

Genomic evidence consistent with antagonistic pleiotropy may help explain the evolutionary maintenance of same-sex sexual behaviour in humans

Morgan J. Sidari, Brendan P. Zietsch, Robert M. Maier, 2021, Nature Human Behaviour.

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

Mustafa Tekin, Bruno Dallapiccola, Juan I. Young, 2011, American journal of human genetics.

Comprehensive Analysis via Exome Sequencing Uncovers Genetic Etiology in Autosomal Recessive Non-Syndromic Deafness in a Large Multiethnic Cohort

M. Tekin, S. Blanton, Shengru Guo, 2015, Genetics in Medicine.

A founder noncoding GALT variant interfering with splicing causes galactosemia

M. Tekin, Shengru Guo, G. Bademci, 2020, Journal of inherited metabolic disease.

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

Shengru Guo, G. Bademci, H. Moore, 2022, Molecular genetics & genomic medicine.

Genome studies must account for history—Response

Robert M. Maier, A. Auton, B. Neale, 2019, Science.

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

M. Tekin, X. Liu, S. Blanton, 2016, Human Genetics.

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

M. Tekin, X. Liu, S. Blanton, 2016, Hearing Research.

FOXF2 is required for cochlear development in humans and mice.

M. Tekin, M. Walter, S. Blanton, 2018, Human molecular genetics.

Exome Sequencing and Genome-Wide Linkage Analysis in 17 Families Illustrate the Complex Contribution of TTN Truncating Variants to Dilated Cardiomyopathy

Niklas Krumm, D. Nickerson, E. Martin, 2013, Circulation. Cardiovascular genetics.

Genome-Wide Linkage and Association Study of Childhood Gender Nonconformity in Males

E. Martin, G. Beecham, A. Sanders, 2021, Archives of Sexual Behavior.

Genome-Wide Linkage Study Meta-Analysis of Male Sexual Orientation

D. Hamer, E. Martin, B. Mustanski, 2021, Archives of Sexual Behavior.

Response to Comment on “Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior”

Robert M. Maier, A. Auton, B. Neale, 2021, Science.

Genome-Wide Association Study of Male Sexual Orientation

Jianxin Shi, E. Martin, D. Levinson, 2017, Scientific Reports.

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.

Derek J Van Booven, M. Tekin, Derek J. Van Booven, 2014, Genetic testing and molecular biomarkers.

Linkage and association of successful aging to the 6q25 region in large Amish kindreds

J. Gilbert, J. Haines, M. Pericak-Vance, 2013, AGE.

Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss

Serhat Seyhan, Shengru Guo, D. Duman, 2023, Journal of Human Genetics.

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

M. Tekin, Gaofeng Wang, S. Blanton, 2018, Human Genetics.

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

M. Tekin, Gaofeng Wang, Shengru Guo, 2019, Human Genetics.

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome

Shengru Guo, G. Bademci, M. Tekin, 2023, American journal of medical genetics. Part A.

Genome-wide scan demonstrates significant linkage for male sexual orientation

E. Martin, E. Gershon, J. Badner, 2014, Psychological Medicine.

Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss

M. Tekin, Shengru Guo, D. Duman, 2019, Clinical genetics.

A Mayan founder mutation is a common cause of deafness in Guatemala

M. Tekin, S. Blanton, Shengru Guo, 2016, Clinical genetics.