MindyLiMD

PubMed

• 5 citations
  Offering preimplantation genetic testing for monogenic disorders (PGT-M) for conditions with reduced penetrance or variants of uncertain significance: Ethical insight ...
  Anthony Porto, Rikki Gaber Caffrey, Megan Crowley-Matoka, Sara Spencer, Mindy H. Li, Lauren Propst> ;Journal of Genetic Counseling. 2021 Aug 4
• 11 citations
  Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.
  Mindy H. Li, Jennifer Glass, Xiaoli Du, Holly Dubbs, Margaret Harr, Marni J. Falk, Teresa A. Smolarek, Robert J. Hopkin, Elaine H. Zackai, Sarah E Sheppard> ;American Journal of Medical Genetics. Part A. 2021 Aug 1
• 24 citations
  Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
  Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard, Thomas Garcia, Slavé Petrovski, Shiri Avni, Kirsty McWalter, Patrick R. ...> ;American Journal of Human Genetics. 2019 Mar 7
• 24 citations
  Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
  Sarah E Sheppard, Sawona Biswas, Mindy H. Li, Vijayakumar Jayaraman, Ian Slack, Edward J. Romasko, Ariella Sasson, Joshua Brunton, Ramakrishnan Rajagopalan, Mahdi Sarm...> ;Genetics in Medicine. 2018 Jun 15
• 104 citations
  Recommendations for the integration of genomics into clinical practice.
  Sarah Bowdin, Adel Gilbert, Emma Bedoukian, Christopher Carew, Margaret P. Adam, John W. Belmont, Barbara A. Bernhardt, Leslie G. Biesecker, Hans T. Bjornsson, Miriam ...> ;Genetics in Medicine. 2016 May 12
• 5 citations
  Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
  Mindy H. Li, Jenica L. Abrudan, Matthew C. Dulik, Ariella Sasson, Joshua Brunton, Vijayakumar Jayaraman, Noreen P. Dugan, Danielle Haley, Ramakrishnan Rajagopalan, Saw...> ;Human Genomics. 2015 Jul 19
• 4 citations
  Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay.
  Mindy H. Li, Kelly Arndt, Soma Das, Elliott Mark Weiss, Yaning Wu, Kriti Gwal, Karuna Shekdar, Elaine H. Zackai> ;American Journal of Medical Genetics. Part A. 2015 Jun 1
• 8 citations
  Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.
  Mindy H. Li, Moriah Eberhard, Pamela A. Mudd, Luv Javia, Robert A. Zimmerman, Nahla Khalek, Elaine H. Zackai> ;American Journal of Medical Genetics. Part A. 2015 Mar 1
• 39 citations
  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
  Paul Kruszka, Dong Li, Margaret Harr, Nathan R. Wilson, Daniel T. Swarr, Elizabeth M. McCormick, Rosetta M. Chiavacci, Mindy H. Li, Ariel F. Martinez, Rachel A. Hart, ...> ;Journal of Medical Genetics. 2015 Feb 1
• 25 citations
  Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without L...
  Elizabeth J. Bhoj, M. Li, Rebecca C. Ahrens-Nicklas, Louise C. Pyle, J. Wang, V. W. Zhang, C. Clarke, L. J. Wong, Neal Sondheimer, Can Ficicioglu, Marc Yudkoff> ;JIMD Reports. 2014 Jan 1
• Enzyme induction and acute endocrine effects in prepubertal female rats receiving environmental PCB/PCDF/PCDD mixtures.
  Li, M. H.,Hansen, L. G.> ;Environ. Health Perspect.. 1996 Jul 01
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