Search Results - "Lisi, Emily C."

Genomics Integration Into Nephrology Practice by Pinto e Vairo, Filippo, Prochnow, Carri, Kemppainen, Jennifer L., Lisi, Emily C., Steyermark, Joan M., Kruisselbrink, Teresa M., Pichurin, Pavel N., Dhamija, Rhadika, Hager, Megan M., Albadri, Sam, Cornell, Lynn D., Lazaridis, Konstantinos N., Klee, Eric W., Senum, Sarah R., El Ters, Mireille, Amer, Hatem, Baudhuin, Linnea M., Moyer, Ann M., Keddis, Mira T., Zand, Ladan, Sas, David J., Erickson, Stephen B., Fervenza, Fernando C., Lieske, John C., Harris, Peter C., Hogan, Marie C.

“…The etiology of kidney disease remains unknown in many individuals with chronic kidney disease (CKD). We created the Mayo Clinic Nephrology Genomics Clinic to…”
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3q29 interstitial microduplication: A new syndrome in a three-generation family by Lisi, Emily C., Hamosh, Ada, Doheny, Kimberly F., Squibb, Elizabeth, Jackson, Barbara, Galczynski, Rebecca, Thomas, George H., Batista, Denise A.S.

“…Microdeletion and microduplication genetic syndromes are known to be a significant cause of developmental delay and dysmorphology. Utilizing high‐resolution…”
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Opinions of adults affected with later‐onset lysosomal storage diseases regarding newborn screening: A qualitative study by Lisi, Emily C., Ali, Nadia

“…Lysosomal storage diseases (LSDs) are a heterogeneous group of conditions causing substrate accumulation leading to progressive organ damage. Newborn screening…”
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Patients' perspectives on newborn screening for later-onset lysosomal storage diseases by Lisi, Emily C., Gillespie, Scott, Laney, Dawn, Ali, Nadia

“…Lysosomal storage diseases (LSDs) are an individually rare but collectively common group of hereditary, progressive, multi-systemic disorders. Recent…”
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Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers by Lisi, Emily C., McCandless, Shawn E.

“…Lysosomal storage diseases (LSDs), lysosomal enzyme deficiencies causing multi-system organ damage, have come to the forefront in newborn screening (NBS)…”
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Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature by LISI, EMILY C, COHN, RONALD D

“…Aim  Hypotonia is a symptom of diminished tone of skeletal muscle associated with decreased resistance of muscles to passive stretching, which can be caused by…”
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Clinically Actionable Findings Derived From Predictive Genomic Testing Offered in a Medical Practice Setting by Anderson, Jennifer L., Kruisselbrink, Teresa M., Lisi, Emily C., Hughes, Therese M., Steyermark, Joan M., Winkler, Erin M., Berg, Corinne M., Vierkant, Robert A., Gupta, Ruchi, Ali, Ahmad H., Faubion, Stephanie S., Aoudia, Stacy L., McAllister, Tammy M., Farrugia, Gianrico, Stewart, A. Keith, Lazaridis, Konstantinos N.

“…To assess the presence of clinically actionable results and other genetic findings in an otherwise healthy population of adults seen in a medical practice…”
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Albinism and Developmental Delay: The Need to Test for 15q11-q13 Deletion by Saadeh, Reem, MD, Lisi, Emily C., MS, Batista, Denise A.S., PhD, McIntosh, Iain, PhD, Hoover-Fong, Julie E., MD

“…We report on a 17-month-old African girl with cutaneous and ophthalmologic features of oculocutaneous albinism type 2 as well as microcephaly, absent speech,…”
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3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition by Li, Feng, Lisi, Emily C, Wohler, Elizabeth S, Hamosh, Ada, Batista, Denise A.S

“…Abstract An inherited, interstitial subtelomere deletion of approximately 1.3–1.4 Mb at 3q29 was identified in a patient and his father utilizing BAC array…”
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Genetic counseling dilemma in neuronal ceroid lipofuscinosis associated with variants of unknown significance in whole exome sequencing: A case report by Lisi, Emily C., Foley, Allison, Shankar, Suma

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Do the benefits outweigh the harms? Views of patients with later onset LSD on newborn screening by Lisi, Emily C., Long, Val, Laney, Dawn

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Clinomics Implementation in the Mayo Clinic Nephrology Practice: PO1666 by Hogan, Marie C., Vairo, Filippo, Lieske, John C., Fervenza, Fernando C., Erickson, Stephen B., El Ters, Mireille, Baudhuin, Linnea, Moyer, Ann M., Lisi, Emily C., Kemppainen, Jennifer L., Prochnow, Carri, Lazaridis, Konstantinos N., Albadri, Sam, Cornell, Lynn D., Harris, Peter C.

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Clinically Actionable Findings Derived From Predictive Genomic Testing Offered in a Medical Practice Setting by Anderson, Jennifer L, Kruisselbrink, Teresa M, Lisi, Emily C, Hughes, Therese M, Steyermark, Joan M, Winkler, Erin M, Berg, Corinne M, Vierkant, Robert A, Gupta, Ruchi, Ali, Ahmad H, Faubion, Stephanie S, Aoudia, Stacy L, McAllister, Tammy M, Farrugia, Gianrico, Stewart, A. Keith, Lazaridis, Konstantinos N

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Attitudes and experiences of healthcare providers regarding newborn screening for lysosomal disorders by Lisi, Emily C., Goldenberg, Aaron, McCandless, Shawn E.

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Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature: Review by LISI, EMILY C, COHN, RONALD D

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A study to identify individuals at risk to be affected with late-onset Pompe disease with previous non-specific diagnoses by Keever, Maria L., Botha, Eleanor G., Lisi, Emily C., Laney, Dawn J., Harrison, Taylor, Li, Hong

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