Mindy Hui Li

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Phone+1 312 227 6120
Emailmindy.linorthwesternedu

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Education/Academic qualification

Medicine, MD, University of Illinois at Chicago

… → 2009

Research interests keywords

Genetics: Medical
Genomic Medicine/Personalized Medicine
Genomics

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10 Article
1 Chapter
1 Letter
1 Review article

A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members
Owczarzak, L. R., Hogan, K. E., Dineen, R. T., Gill, C. E. & Li, M. H., 2022, In: Tremor and Other Hyperkinetic Movements. 12, 1, 7.
Research output: Contribution to journal › Article › peer-review

Open Access
3 Scopus citations
Offering preimplantation genetic testing for monogenic disorders (PGT-M) for conditions with reduced penetrance or variants of uncertain significance: Ethical insight from U.S. laboratory genetic counselors
Porto, A., Gaber Caffrey, R., Crowley-Matoka, M., Spencer, S., Li, M. & Propst, L., Feb 2022, In: Journal of Genetic Counseling. 31, 1, p. 261-268 8 p.
Research output: Contribution to journal › Article › peer-review
9 Scopus citations
PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum
Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., Wierenga, K. J., Isidor, B., Piton, A., Faivre, L., Garde, A., Moutton, S., Tran-Mau-Them, F., Denommé-Pichon, A. S., Coubes, C. & Larson, A. & 85 others, Esser, M. J., Appendino, J. P., Al-Hertani, W., Gamboni, B., Mampel, A., Mayorga, L., Orsini, A., Bonuccelli, A., Suppiej, A., Van-Gils, J., Vogt, J., Damioli, S., Giordano, L., Moortgat, S., Wirrell, E., Hicks, S., Kini, U., Noble, N., Stewart, H., Asakar, S., Cohen, J. S., Naidu, S. B. R., Collier, A., Brilstra, E. H., Li, M. H., Brew, C., Bigoni, S., Ognibene, D., Ballardini, E., Ruivenkamp, C., Faggioli, R., Afenjar, A., Rodriguez, D., Bick, D., Segal, D., Coman, D., Gunning, B., Devinsky, O., Demmer, L. A., Grebe, T., Pruna, D., Cursio, I., Greenhalgh, L., Graziano, C., Singh, R. R., Cantalupo, G., Willems, M., Yoganathan, S., Góes, F., Leventer, R. J., Colavito, D., Olivotto, S., Scelsa, B., Andrade, A. V., Ratke, K., Tokarz, F., Khan, A. S., Ormieres, C., Benko, W., Keough, K., Keros, S., Hussain, S., Franques, A., Varsalone, F., Grønborg, S., Mignot, C., Heron, D., Nava, C., Isapof, A., Borlot, F., Whitney, R., Ronan, A., Foulds, N., Somorai, M., Brandsema, J., Helbig, K. L., Helbig, I., Ortiz-González, X. R., Dubbs, H., Vitobello, A., Anderson, M., Spadafore, D., Hunt, D., Møller, R. S. & Rubboli, G., Dec 15 2021, In: Neurology: Genetics. 7, 6, e613.
Research output: Contribution to journal › Article › peer-review

Open Access
18 Scopus citations
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines
Li, M., Glass, J., Du, X., Dubbs, H., Harr, M. H., Falk, M., Smolarek, T., Hopkin, R. J., Zackai, E. & Sheppard, S. E., Aug 2021, In: American Journal of Medical Genetics, Part A. 185, 8, p. 2374-2383 10 p.
Research output: Contribution to journal › Article › peer-review

Open Access
12 Scopus citations
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
CAUSES Study & Deciphering Developmental Disorders Study, Mar 7 2019, In: American journal of human genetics. 104, 3, p. 530-541 12 p.
Research output: Contribution to journal › Article › peer-review

Open Access
29 Scopus citations

Mindy Hui Li

Personal profile

Education/Academic qualification

Research interests keywords

Fingerprint

Collaborations and top research areas from the last five years

Dive into details

A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members

Offering preimplantation genetic testing for monogenic disorders (PGT-M) for conditions with reduced penetrance or variants of uncertain significance: Ethical insight from U.S. laboratory genetic counselors

PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum

Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Mindy Hui Li

Personal profile

Education/Academic qualification

Research interests keywords

Fingerprint

Collaborations and top research areas from the last five years

Research Output

A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members

Offering preimplantation genetic testing for monogenic disorders (PGT-M) for conditions with reduced penetrance or variants of uncertain significance: Ethical insight from U.S. laboratory genetic counselors

PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum

Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability