Emily C. Lisi

Research Field

Supplemental Table 2

Emily C. Lisi Shawn E. McCandless

Table (database)

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

JAMA Neurology (2023)

Shyam K. Akula Allen Y. Chen Jennifer E. Neil Diane D. Shao Alisa Mo

Polymicrogyria is the most commonly diagnosed cortical malformation and is associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, and cognitive deficits. Polymicrogyria frequently co-occurs with other brain malformations or as part of syndromic diseases. Past studies of polymicrogyria have defined heterogeneous genetic and nongenetic causes but have explained only a small fraction of cases.

Polymicrogyria

Exome

Proband

Massive parallel sequencing

10.1001/jamaneurol.2023.2363

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Citations (18)

Genomic analysis of partial 21q monosomies with variable phenotypes

European Journal of Human Genetics (2010)

Elisha Roberson Elizabeth Wohler Julie Hoover‐Fong Emily C. Lisi Eric L. Stevens

Monosomy

SNP

Breakpoint

10.1038/ejhg.2010.150

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Citations (62)

Genomics Integration Into Nephrology Practice

Kidney Medicine (2021)

Filippo Pinto e Vairo Carri A. Prochnow Jennifer L. Kemppainen Emily C. Lisi Joan Steyermark

The etiology of kidney disease remains unknown in many individuals with chronic kidney disease (CKD). We created the Mayo Clinic Nephrology Genomics Clinic to improve our ability to integrate genomic and clinical data to identify the etiology of unexplained CKD.

Nephrology

10.1016/j.xkme.2021.04.014

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Citations (17)

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

Mayo Clinic Proceedings (2020)

Jennifer L. Anderson Teresa Kruisselbrink Emily C. Lisi Therese M. Hughes Joan Steyermark

Predictive testing

10.1016/j.mayocp.2020.08.051

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Citations (8)

[Y chromosome abnormalities and azoospermia. Description of 2 cases].

PubMed (1987)

E Montali R Guazzelli M Piazzini C J Conti Laura Papi

We describe clinical features and laboratory findings in two azoospermic males with a large Yq deletion involving both the fluorescent and part of the non-fluorescent segment. This report give strong support to the localization of fertility factors in the euchromatic Yq portion.

Euchromatin

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Attitudes and experiences of healthcare providers regarding newborn screening for lysosomal disorders

Molecular Genetics and Metabolism (2014)

Emily C. Lisi Aaron J. Goldenberg Shawn E. McCandless

Lysosomal Storage Disorders

10.1016/j.ymgme.2013.12.154

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Clinomics Implementation in the Mayo Clinic Nephrology Practice

Journal of the American Society of Nephrology (2020)

Marie C. Hogan Filippo Pinto e Vairo John C. Lieske Fernando C. Fervenza Stephen B. Erickson

Nephrology

10.1681/asn.20203110s1526a

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

American Journal of Medical Genetics Part A (2008)

Emily C. Lisi Ada Hamosh Kimberly F. Doheny Elizabeth E. Squibb Barbara L. Jackson

Microdeletion and microduplication genetic syndromes are known to be a significant cause of developmental delay and dysmorphology. Utilizing high-resolution chromosome analysis, array CGH and SNP technologies we identified a novel genomic syndrome comprising of an interstitial duplication of approximately 1.61 Mb at the distal end of chromosome 3 band q29. The imbalance was present in five individuals in a three generation family with clinical features including mild to moderate mental retardation and microcephaly. The duplicated segment overlaps with and is the genomic counterpart of the recently described microdeletion of 3q29. Both syndromes are proposed to occur by non-allelic homologous recombination between regions of low copy repeats present around the breakpoints.

Microcephaly

Breakpoint

Microdeletion syndrome

SNP array

Non-allelic homologous recombination

SNP

10.1002/ajmg.a.32190

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Citations (83)

Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

The Journal of Pediatrics (2008)

Julie Hoover‐Fong William Savage Emily C. Lisi Jerry A. Winkelstein G. H. Thomas