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Mindy Li

Explore the profile of Mindy Li including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 6
Citations 142
Followers 0
Related Specialties
Genetics
Pediatrics
Top 10 Co-Authors
Matthew A Deardorff
A Micheil Innes
Ian A Glass
Nathan R Wilson
Julie Khlevner
Lauren Propst
Cheryl Shuman
Ronald D Cohn
Xavier Pombar
Marni Falk
Published In
J Med Genet
Am J Med Genet A
Neoreviews
Genet Med
J Genet Couns
Affiliations
Soon will be listed here.
Recent Articles
1.
Navigating Prenatal Diagnosis of Fetal Agnathia: A Complex Case and Diagnostic Journey
Sulo K, Kraemer M, Li M, Karas A, Pombar X, Lee E
Neoreviews . 2025 Feb; 26(3):e201-e206. PMID: 40020751
No abstract available.
2.
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants
Qiao L, Welch C, Hernan R, Wynn J, Krishnan U, Zalieckas J, et al.
Am J Hum Genet . 2024 Sep; 111(11):2362-2381. PMID: 39332409
Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly often accompanied by other structural anomalies and/or neurobehavioral manifestations. Rare de novo protein-coding variants and copy-number variations contribute to CDH in...
3.
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, Caffrey R, Crowley-Matoka M, Spencer S, Li M, Propst L
J Genet Couns . 2021 Aug; 31(1):261-268. PMID: 34347921
Preimplantation genetic testing for monogenic disorders (PGT-M) was originally developed to identify embryos affected with serious childhood-onset disorders, but its use has recently broadened. Guidance on the use of PGT-M...
4.
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, Falk M, et al.
Am J Med Genet A . 2021 May; 185(8):2374-2383. PMID: 33969943
Trisomy 9 mosaic syndrome (T9M) is a rare condition characterized by multiorgan system involvement including craniofacial dysmorphisms, cardiac, genitourinary (GU), skeletal, and central nervous system (CNS) abnormalities. Although more than...
5.
Enzyme Replacement Therapy: A Review and Its Role in Treating Lysosomal Storage Diseases
Li M
Pediatr Ann . 2018 May; 47(5):e191-e197. PMID: 29750286
Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders caused by defects in lysosomal function that lead to multiorgan system damage. Due to wide clinical variability within even...
6.
Recommendations for the integration of genomics into clinical practice
Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam M, Belmont J, et al.
Genet Med . 2016 May; 18(11):1075-1084. PMID: 27171546
The introduction of diagnostic clinical genome and exome sequencing (CGES) is changing the scope of practice for clinical geneticists. Many large institutions are making a significant investment in infrastructure and...
7.
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
Kruszka P, Li D, Harr M, Wilson N, Swarr D, McCormick E, et al.
J Med Genet . 2014 Nov; 52(2):104-10. PMID: 25412741
Background: Opitz G/BBB syndrome is a heterogeneous disorder characterised by variable expression of midline defects including cleft lip and palate, hypertelorism, laryngealtracheoesophageal anomalies, congenital heart defects, and hypospadias. The X-linked...