Publications by authors named "Mindy Li"

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Strained actin binding by the Prickle2 LIM domains and their regulation in the full-length protein.
Vidal Bejar-Padilla, Mindy Li, Jeanne C Stachowiak, John B Wallingford

Mol Biol Cell· January 2026

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Experience and Satisfaction of Genetic Clinicians With Electronic Health Records (EHR).
Mindy H Li, Alison Conn, Barak Bar, Howard Levy

Am J Med Genet A· December 2025

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Stressed Actin Binding by the Prickle2 LIM Domains and its Regulation in the Full-Length Protein.
Vidal Bejar-Padilla, Mindy Li, Jeanne C Stachowiak, John B Wallingford

bioRxiv· June 2025

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Navigating Prenatal Diagnosis of Fetal Agnathia: A Complex Case and Diagnostic Journey.
Kelly S Sulo, Megan Kraemer, Mindy Li, Anatoli F Karas, Xavier Pombar

Neoreviews· March 2025

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Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.
Lu Qiao, Carrie L Welch, Rebecca Hernan, Julia Wynn, Usha S Krishnan, Jill M Zalieckas, Julie Khlevner, Aliva De, Annelies de Klein, Elizabeth Fialkowski, Felicitas Schulz, Foong-Yen Lim, George B Mychaliska, Melissa E Danko, Mindy Li

Am J Hum Genet· November 2024

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Mosaic Trisomy 16 Associated with Left Lung Agenesis, Abnormal Left Arm, and Right Pulmonary Artery Stenosis: Expanding the Phenotype and Review of the Literature.
Hoang H Nguyen, Krishna Kishore Umapathi, John W Bokowski, Kelsey Hogan, Alexa Hart, Mindy H Li

J Pediatr Genet· December 2022

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A New Pathologic Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members.
Laura R Owczarzak, Kelsey E Hogan, Richard T Dineen, Chandler E Gill, Mindy H Li

Tremor Other Hyperkinet Mov (N Y)· April 2022

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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.
Anthony Porto, Rikki Gaber Caffrey, Megan Crowley-Matoka, Sara Spencer, Mindy Li

J Genet Couns· February 2022

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Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Katrine M Johannesen, Elena Gardella, Cathrine E Gjerulfsen, Allan Bayat, Rob P W Rouhl, Julien Buratti, Amélie Piton, Alice Bonuccelli, Julien Van-Gils, Julie Vogt, Simona Damioli, Julie S Cohen, Ashley Collier, Mindy H Li, Elisa Ballardini, Raffaella Faggioli, Sara Olivotto, William Benko, Felicia Varsalone, Caroline Nava, Felippe Borlot, Guido Rubboli

Neurol Genet· December 2021

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Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.
Mindy Li, Jennifer Glass, Xiaoli Du, Holly Dubbs, Margaret Horton Harr

Am J Med Genet A· August 2021

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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, Jacqueline Harris, Julie S Cohen, Mindy H Li, Charlotte von der Lippe, Christian Gilissen, Malin Kvarnung, Julie McGaughran, Jennifer Sullivan, Julie C Sapp, Francesca Filippini, Anna Lindstrand, Shalini N Jhangiani, Wallid Deb, Caitlin Troyer, Ralitza Gavrilova, Leslie G Biesecker, Philippe M Campeau

Am J Hum Genet· March 2019

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sarah Sheppard, Sawona Biswas, Mindy H Li, Vijayakumar Jayaraman, Ian Slack, Elizabeth T DeChene, Alisha Wilkens, Laura K Conlin, Matthew C Dulik

Genet Med· December 2018

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Enzyme Replacement Therapy: A Review and Its Role in Treating Lysosomal Storage Diseases.
Mindy Li

Pediatr Ann· May 2018

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Recommendations for the integration of genomics into clinical practice.
Sarah Bowdin, Adel Gilbert, Emma Bedoukian, Christopher Carew, Margaret P Adam, Leslie Biesecker, Miriam Blitzer, Lisa C A D'Alessandro, Alison Elliott, Mindy Li, Eriskay Liston, Livija Medne, Alisha Wilkens

Genet Med· November 2016

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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, Elizabeth T DeChene, Alisha Wilkens, Laura K Conlin

Hum Genomics· July 2015

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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 M Weiss, Yaning Wu

Am J Med Genet A· June 2015

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Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.
Mindy H Li, Moriah Eberhard, Pamela Mudd, Luv Javia, Robert Zimmerman

Am J Med Genet A· March 2015

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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 H Harr, Nathan R Wilson, Daniel Swarr, Elizabeth M McCormick, Mindy Li, Maximilian Muenke

J Med Genet· February 2015

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