Yang Cao

2025

Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations

Ghasemi, R., Corliss, M. M., Bowling, K. M., Krysiak, K., Walker, J., Dickson, A. M., Schroeder, M. C., Parikh, B. A., Neidich, J. A., Polonis, K. & Cao, Y., Apr 2025, In: Clinical Genetics. 107, 4, p. 458-462 5 p.

Research output: Contribution to journal › Article › peer-review

Conventional Cytogenetic Analysis of Constitutional Abnormalities A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee

Boles, B., Gardner, J. A., Rehder, C. W., Levy, B., Velagaleti, G. V., Toydemir, R. M., Sukov, W. R., Larson, D. P., Cao, Y., Mixon, C., Vanderscheldon, R. K., Zou, Y. S., Astbury, C., Tsuchiya, K. D. & Peterson, J. F., Mar 2025, In: Archives of Pathology and Laboratory Medicine. 149, 3, p. 211-216 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Discovery of a MET -driven monogenic cause of steatotic liver disease

E Vairo, F. P., Zimmermann, M. T., Wagenknecht, J., Jorge, S. D., Tian, S., Vierkant, R. A., Luehrs, A. C., Milech De Assunção, T., Mathison, A., Atwal, P. S., Cao, Y., Allen, A. M., Klee, E. W., Urrutia, R. & Lazaridis, K. N., 2025, (Accepted/In press) In: Hepatology. 10.1097/HEP.0000000000001249.

Research output: Contribution to journal › Article › peer-review

Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism

Leon-Quintero, F. Z., Bowling, K. M., Dickson, A., Corliss, M. M., Schroeder, M. C., Neidich, J. A., Heusel, J. W., Krysiak, K., Polonis, K., Parikh, B. A. & Cao, Y., Mar 2025, In: Clinical Genetics. 107, 3, p. 261-270 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Single-Gene Deletion of FGF3 in a Patient With Features of 11q13 Microdeletion Syndrome

Rahi, H., Dickson, P. I., Toler, T. L., Corliss, M. M. & Cao, Y., Jun 2025, In: American Journal of Medical Genetics, Part A. 197, 6, e64025.

Research output: Contribution to journal › Article › peer-review

2024

Conventional Cytogenetic Analysis of Solid Tumor Abnormalities: A 25-Year Review of Proficiency Test Results from the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee

Vanderscheldon, R. K., Sukov, W. R., Gardner, J. A., Rehder, C. W., Levy, B., Velagaleti, G. V., Toydemir, R. M., Tang, G., Boles, B., Cao, Y., Mixon, C., Zou, Y. S., Astbury, C., Tsuchiya, K. D. & Peterson, J. F., Dec 2024, In: Genes. 15, 12, 1612.

Research output: Contribution to journal › Article › peer-review

Open Access

Multimodal therapeutic approach for a severe case of kaposiform lymphangiomatosis from procedural interventions to targeted therapies

Gourmel, A., Kleiber, N., Kokta, V., Bergeron, M., McCuaig, C., Doré-Bergeron, M. J., Simpson, E., Renaud, C., Roy, J. P., Zysman-Colman, Z., Cao, Y., Théorêt, Y., Powell, J., Dubois, J. & Tran, T. H., Aug 2024, In: Pediatric Blood and Cancer. 71, 8, e31079.

Research output: Contribution to journal › Letter › peer-review

The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors

Deignan, J. L., Aggarwal, V., Bale, A. E., Bellissimo, D. B., Booker, J. K., Cao, Y., Crooks, K. R., Deak, K. L., Del Gaudio, D., Funke, B., Hoppman, N. L., Horner, V., Hufnagel, R. B., Jackson-Cook, C., Koduru, P., Leung, M. L., Li, S., Liu, P., Luo, M. & Mao, R. & 15 others, Mason-Suares, H., Mikhail, F. M., Moore, S. R., Naeem, R. C., Pollard, L. M., Repnikova, E. A., Shao, L., Shaw, B. M., Shetty, S., Smolarek, T. A., Spiteri, E., Van Ziffle, J., Vance, G. H., Vnencak-Jones, C. L. & Williams, E. S., Jan 2024, In: Genetics in Medicine Open. 2, 101820.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

The Somatic Mosaicism across Human Tissues (SMaHT) Network, a SMART Investment?

Hubler, Z. M. L. & Cao, Y., May 1 2024, In: Clinical chemistry. 70, 5, p. 780-781 2 p.

Research output: Contribution to journal › Short survey › peer-review

Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies

Vaseghi, P., Habibi, L., Neidich, J. A., Cao, Y., Fattahi, N., Rashidi-Nezhad, R., Salehnezhad, T., Dalili, H., Rahimi Sharbaf, F., Zarkesh, M. R., Malekian, M., Mokhberdezfuli, M., Mehrtash, A., Ardeshirdavani, A., Kariminejad, R., Ghorbansabagh, V., Sadeghimoghadam, P., Naddaf, A., Esmaeilnia Shirvany, T. & Mosayebi, Z. & 10 others, Sahebdel, B., Golshahi, F., Shirazi, M., Shamel, S., Moeini, R., Heidari, A., Daneshmand, M. A., Ghasemi, R., Akrami, S. M. & Rashidi-Nezhad, A., Oct 2024, In: European Journal of Human Genetics. 32, 10, p. 1238-1249 12 p.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

2023

A comparative analysis of RAS variants in patients with disorders of somatic mosaicism

Claire Hou, Y. C., Evenson, M. J., Corliss, M. M., Mahapatra, L., Aldawood, A., Carpentieri, D. F., Chamlin, S. L., Kulungowski, A. M., Madan-Khetarpal, S., Sebastian, J., Pet, M. A., Coughlin, C. C., Willing, M. C., Pearson, G. D., Setty, B. A., El-Haffaf, Z., Cottrell, C. E., Parikh, B. A., Krysiak, K. & Schroeder, M. C. & 3 others, Heusel, J. W., Neidich, J. A. & Cao, Y., Mar 2023, In: Genetics in Medicine. 25, 3, 100348.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism

Cao, Y., Evenson, M. J., Corliss, M. M., Schroeder, M., Heusel, J. & Neidich, J. A., Jan 2023, In: Genetics in Medicine Open. 1, 1, 100807.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Scopus citations

High-depth next-generation sequencing panel testing in the evaluation of arteriovenous malformations

Hernandez, P. V., King, K. A., Evenson, M. J., Corliss, M. M., Schroeder, M. C., Heusel, J. W., Neidich, J. A. & Cao, Y., Jun 2023, In: American Journal of Medical Genetics, Part A. 191, 6, p. 1518-1524 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

Loss of Chromosome 3q Is a Prognostic Marker in Fusion-Negative Rhabdomyosarcoma

Dehner, C. A., Bell, R. C., Cao, Y., He, K., Chrisinger, J. S. A., Armstrong, A. E., Yohe, M., Shern, J. & Hirbe, A. C., 2023, In: JCO Precision Oncology. 7, e2300037.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

Profiling PIK3CA variants in disorders of somatic mosaicism

Mojarad, B. A., Hernandez, P. V., Evenson, M. J., Corliss, M. M., Stein, S. L., Theos, A., Coughlin, C., Sisk, B., Menezes, M., Schroeder, M., Heusel, J., Neidich, J. A. & Cao, Y., Jan 2023, In: Genetics in Medicine Open. 1, 1, 100815.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

2022

From karyotypes to precision genomics in 9p deletion and duplication syndromes

Sams, E. I., Ng, J. K., Tate, V., Claire Hou, Y. C., Cao, Y., Antonacci-Fulton, L., Belhassan, K., Neidich, J., Mitra, R. D., Cole, F. S., Dickson, P., Milbrandt, J. & Turner, T. N., Jan 13 2022, In: Human Genetics and Genomics Advances. 3, 1, 100081.

Research output: Contribution to journal › Article › peer-review

Open Access

11 Scopus citations

The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2

ClinGen Brain Malformation Variant Curation Expert Panel, Nov 2022, In: Genetics in Medicine. 24, 11, p. 2240-2248 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

17 Scopus citations

2021

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly

Uguen, K., Krysiak, K., Audebert-Bellanger, S., Redon, S., Benech, C., Viora-Dupont, E., Tran Mau-Them, F., Rondeau, S., Elsharkawi, I., Granadillo, J. L., Neidich, J., Soares, C. A., Tkachenko, N., M. Amudhavalli, S., Engleman, K., Boland, A., Deleuze, J. F., Bezieau, S., Odent, S. & Toutain, A. & 8 others, Bonneau, D., Gilbert-Dussardier, B., Faivre, L., Rio, M., Le Marechal, C., Ferec, C., Repnikova, E. & Cao, Y., Oct 2021, In: Clinical Genetics. 100, 4, p. 386-395 10 p.

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

2019

Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort

McNulty, S. N., Evenson, M. J., Corliss, M. M., Love-Gregory, L. D., Schroeder, M. C., Cao, Y., Lee, Y. S., Drolet, B. A., Neidich, J. A., Cottrell, C. E. & Heusel, J. W., Oct 3 2019, In: American journal of human genetics. 105, 4, p. 734-746 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

26 Scopus citations

2017

A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype

Cao, Y., AlHumaidi, S. S., Faqeih, E. A., Pitel, B. A., Lundquist, P. & Aypar, U., Aug 2017, In: European Journal of Medical Genetics. 60, 8, p. 416-420 5 p.

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

NF-κB Immunity in the Brain Determines Fly Lifespan in Healthy Aging and Age-Related Neurodegeneration

Kounatidis, I., Chtarbanova, S., Cao, Y., Hayne, M., Jayanth, D., Ganetzky, B. & Ligoxygakis, P., Apr 25 2017, In: Cell Reports. 19, 4, p. 836-848 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

137 Scopus citations

2016

A novel Xq22.1 deletion in a male with multiple congenital abnormalities and respiratory failure

Cao, Y. & Aypar, U., May 1 2016, In: European Journal of Medical Genetics. 59, 5, p. 274-277 4 p.

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

Two cases with de novo 3q26.31 microdeletion suggest a role for FNDC3B in human craniofacial development

Cao, Y., Mitchell, E. B., Gorski, J. L., Hollinger, C. & Hoppman, N. L., Dec 1 2016, In: American Journal of Medical Genetics, Part A. 170, 12, p. 3276-3281 6 p.

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

2013

Dnr1 mutations cause neurodegeneration in Drosophila by activating the innate immune response in the brain

Cao, Y., Chtarbanova, S., Petersen, A. J. & Ganetzky, B., May 7 2013, In: Proceedings of the National Academy of Sciences of the United States of America. 110, 19, p. E1752-E1760

Research output: Contribution to journal › Article › peer-review

Open Access

162 Scopus citations

Yang Cao

Research output

Search results