E. Lisi

发表

Genomics Integration Into Nephrology Practice

J. Lieske, P. Harris, M. Hogan, 2021, Kidney medicine.

Opinions of adults affected with later‐onset lysosomal storage diseases regarding newborn screening: A qualitative study

E. Lisi, N. Ali, 2021, Journal of genetic counseling.

Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection.

M. Hogan, M. El Ters, S. Erickson, 2021, Mayo Clinic proceedings.

Congenital T cell deficiency in a patient with CHARGE syndrome.

L. Hoefsloot, J. Hoover-Fong, J. Winkelstein, 2009, The Journal of pediatrics.

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

E. Lisi, 2021, Journal of Medical Ethics.

Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers

S. McCandless, E. Lisi, 2016, Journal of Genetic Counseling.

Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers

M. Gambello, P. Kishnani, E. Lisi, 2015, Molecular genetics and metabolism reports.

Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease.

W. Wilcox, E. Lisi, Reneé H Moore, 2021, Molecular genetics and metabolism.

3q29 interstitial microduplication: A new syndrome in a three‐generation family

K. Doheny, A. Hamosh, D. Batista, 2008, American journal of medical genetics. Part A.

Clinically Actionable Findings Derived From Predictive Genomic Testing Offered in a Medical Practice Setting.

Tammy M. McAllister, R. Vierkant, G. Farrugia, 2020, Mayo Clinic proceedings.

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, J. Pevsner, J. Hoover-Fong, 2009, American journal of medical genetics. Part A.

Newborn screening for Pompe disease: impact on families

E. Lisi, B. Pruniski, N. Ali, 2018, Journal of Inherited Metabolic Disease.

Genomic analysis of partial 21q monosomies with variable phenotypes

Elisha D O Roberson, A. Hamosh, J. Pevsner, 2011, European Journal of Human Genetics.

3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition.

A. Hamosh, Elizabeth S Wohler, D. Batista, 2009, European journal of medical genetics.

Patients' perspectives on newborn screening for later-onset lysosomal storage diseases.

Dawn A. Laney, S. Gillespie, E. Lisi, 2016, Molecular genetics and metabolism.

Albinism and developmental delay: the need to test for 15q11-q13 deletion.

J. Hoover-Fong, D. Batista, E. Lisi, 2007, Pediatric neurology.

Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature

E. Lisi, R. Cohn, 2011, Developmental medicine and child neurology.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

I. Scheffer, Siddharth Srivastava, B. Bourgeois, 2023, JAMA neurology.

The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene

Andrea M. Atherton, Dawn A. Laney, E. Lisi, 2018, Journal of Genetic Counseling.