Qiaoning Guan, MD, PhD

Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center. Du, X; Glass, JE; Balow, S; Dyer, LM; Rathbun, PA; Guan, Q; Liu, J; Wu, Y; Dawson, DB; Walters-Sen, L; Smolarek, TA; Zhang, W. Journal of Autism and Developmental Disorders. 2022; 52(11):4828-4842.

Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders. Hu, X; Baker, EK; Johnson, J; Balow, S; Pena, LDM; Conlin, LK; Guan, Q; Smolarek, TA. Molecular Cytogenetics. 2022; 15(1):10.

Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? Murrell, JR; Nesbitt, AMI; Baker, SW; Pechter, KB; Balciuniene, J; Zhao, X; Denenberg, EH; Dechene, ET; Wu, C; Jayaraman, P; Medne, L; Krantz, ID; Krock, BL; Santani, AB. Journal of Molecular Diagnostics. 2022; 24(3):274-286.

A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review. Hu, X; Ayala, SS; Dyer, L; Guan, Q; Pena, L. American Journal of Medical Genetics, Part A. 2021; 185(6):1864-1869.

Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes. Abell, K; Tolusso, L; Smith, N; Hopkin, R; Vawter-Lee, M; Habli, M; Riddle, S; Calvo-Garcia, MA; Guan, Q; Bierbrauer, K; Hwa, V; Saal, HM. Birth Defects Research. 2020; 112(19):1733-1737.

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses. Baker, SW; Murrell, JR; Nesbitt, AI; Pechter, KB; Balciuniene, J; Zhao, X; Yu, Z; Denenberg, EH; Dechene, ET; Wilkens, AB; Deardorff, MA; Krantz, ID; Krock, BL; Santani, AB. Journal of Molecular Diagnostics. 2019; 21(1):38-48.

AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. Guan, Q; Balciuniene, J; Cao, K; Fan, Z; Biswas, S; Wilkens, A; Gallo, DJ; Bedoukian, E; Tarpinian, J; Jayaraman, P; Abou Tayoun, AN; Krantz, ID; Conlin, LK; Luo, M. Genetics in Medicine. 2018; 20(12):1600-1608.

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. Gibson, KM; Nesbitt, A; Cao, K; Yu, Z; Denenberg, E; Dechene, E; Guan, Q; Bhoj, E; Zhou, X; Zhang, B; Spinner, N; Krantz, I; Deardorff, M; Santani, A. Genetics in Medicine. 2018; 20(3):329-336.

Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing. Bhoj, EJ; Yu, Z; Guan, Q; Ahrens-Nicklas, R; Cao, K; Luo, M; Tischler, T; Deardorff, MA; Zackai, E; Santani, AB. Genetics in Medicine. 2017; 19(6):715-718.

Nutritional control of epigenetic processes in yeast and human cells. Sadhu, MJ; Guan, Q; Li, F; Sales-Lee, J; Iavarone, AT; Hammond, MC; Cande, WZ; Rine, J. Genetics. 2013; 195(3):831-844.