Publications by authors named "Emily Lisi"

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Expanding insurance coverage for in vitro fertilisation with preimplantation genetic testing: putting the cart before the horse.
Emily C Lisi

J Med Ethics· March 2022

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Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease.
Laura Davids, Yuxian Sun, Reneé H Moore, Emily Lisi, Angela Wittenauer

Mol Genet Metab· February 2022

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Opinions of adults affected with later-onset lysosomal storage diseases regarding newborn screening: A qualitative study.
Emily C Lisi, Nadia Ali

J Genet Couns· December 2021

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Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection.
Jing Miao, Filippo Pinto E Vairo, Marie C Hogan, Stephen B Erickson, Mireille El Ters, Emily Lisi

Mayo Clin Proc· September 2021

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Clinically Actionable Findings Derived From Predictive Genomic Testing Offered in a Medical Practice Setting.
Jennifer L Anderson, Teresa M Kruisselbrink, Emily C Lisi, Therese M Hughes, Joan M Steyermark

Mayo Clin Proc· June 2021

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Genomics Integration Into Nephrology Practice.
Filippo Pinto E Vairo, Carri Prochnow, Jennifer L Kemppainen, Emily C Lisi, Joan M Steyermark

Kidney Med· June 2021

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The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene.
Sarah Macklin, Dawn Laney, Emily Lisi, Andrea Atherton, Elizabeth Smith

J Genet Couns· February 2018

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Patients' perspectives on newborn screening for later-onset lysosomal storage diseases.
Emily C Lisi, Scott Gillespie, Dawn Laney, Nadia Ali

Mol Genet Metab· September 2016

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Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.
Emily C Lisi, Shawn E McCandless

J Genet Couns· April 2016

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Immune Tolerance Strategies in Siblings with Infantile Pompe Disease-Advantages for a Preemptive Approach to High-Sustained Antibody Titers.
Elizabeth O Stenger, Zoheb Kazi, Emily Lisi, Michael J Gambello, Priya Kishnani

Mol Genet Metab Rep· September 2015

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Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature.
Emily C Lisi, Ronald D Cohn

Dev Med Child Neurol· July 2011

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Genomic analysis of partial 21q monosomies with variable phenotypes.
Elisha D O Roberson, Elizabeth Squibb Wohler, Julie E Hoover-Fong, Emily Lisi, Eric L Stevens

Eur J Hum Genet· February 2011

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3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition.
Feng Li, Emily C Lisi, Elizabeth S Wohler, Ada Hamosh, Denise A S Batista

Eur J Med Genet· November 2009

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Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.
Nathaniel D Miller, Melonie A Nance, Elizabeth S Wohler, Julie E Hoover-Fong, Emily Lisi

Am J Med Genet A· February 2009

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Congenital T cell deficiency in a patient with CHARGE syndrome.
Julie Hoover-Fong, William J Savage, Emily Lisi, Jerry Winkelstein, George H Thomas

J Pediatr· January 2009

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3q29 interstitial microduplication: a new syndrome in a three-generation family.
Emily C Lisi, Ada Hamosh, Kimberly F Doheny, Elizabeth Squibb, Barbara Jackson

Am J Med Genet A· March 2008

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Albinism and developmental delay: the need to test for 15q11-q13 deletion.
Reem Saadeh, Emily C Lisi, Denise A S Batista, Iain McIntosh, Julie E Hoover-Fong

Pediatr Neurol· October 2007

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