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

Journal of genetic counseling, 2021-12, Vol.30 (6), p.1544-1558

2021

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

Molecular genetics and metabolism, 2016-09, Vol.119 (1-2), p.109-114

2016

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

Journal of genetic counseling, 2016-04, Vol.25 (2), p.373-384

2016

Volltextzugriff (PDF)

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

Mayo Clinic proceedings, 2021-06, Vol.96 (6), p.1407-1417

2021

Volltextzugriff (PDF)

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

Developmental medicine and child neurology, 2011-07, Vol.53 (7), p.586-599

2011

Volltextzugriff (PDF)

Genomics Integration Into Nephrology Practice

Kidney medicine, 2021-09, Vol.3 (5), p.785-798

2021

Volltextzugriff (PDF)

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

Molecular genetics and metabolism reports, 2015-09, Vol.4 (C), p.30-34

2015

Volltextzugriff (PDF)

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

European journal of medical genetics, 2009-09, Vol.52 (5), p.349-352

2009

Volltextzugriff (PDF)

Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

The Journal of pediatrics, 2009, Vol.154 (1), p.140-142

2009

Volltextzugriff (PDF)

Creation and Implementation of Bioethics Educational Material for Genetic Counseling Training Programs

Lisi, Emily

2021

Volltextzugriff (PDF)

Impact of newborn screening on families in the case of Pompe disease

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S110-S110

2017

Volltextzugriff (PDF)

Impact of social media use in Fabry and Gaucher diseases

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S57-S57

2016

Volltextzugriff (PDF)

Genetic counseling dilemma in neuronal ceroid lipofuscinosis associated with variants of unknown significance in whole exome sequencing: A case report

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S74-S74

2016

Volltextzugriff (PDF)

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

Journal of genetic counseling, 2018-02, Vol.27 (1), p.217-224

2018

Volltextzugriff (PDF)

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

Molecular genetics and metabolism, 2021-09, Vol.134 (1-2), p.20-28

2021

Volltextzugriff (PDF)

Albinism and Developmental Delay: The Need to Test for 15q11-q13 Deletion

Pediatric neurology, 2007-10, Vol.37 (4), p.299-302

2007

Volltextzugriff (PDF)

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

Mayo Clinic proceedings, 2021-09, Vol.96 (9), p.2342-2353

2021

Volltextzugriff (PDF)

Do the benefits outweigh the harms? Views of patients with later onset LSD on newborn screening

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S74-S74

2015

Volltextzugriff (PDF)

Clinomics Implementation in the Mayo Clinic Nephrology Practice: PO1666

Journal of the American Society of Nephrology, 2020-10, Vol.31 (10S), p.526-526

2020

Volltextzugriff (PDF)

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

Mayo Clinic proceedings, 2021-06, Vol.96 (6), p.1407

2021

Volltextzugriff (PDF)

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

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S68-S68

2014

Volltextzugriff (PDF)

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

Developmental medicine and child neurology, 2011-07, Vol.53 (7), p.586-599

2011

Volltextzugriff (PDF)

A study to identify individuals at risk to be affected with late-onset Pompe disease with previous non-specific diagnoses

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S61-S62

2015

Volltextzugriff (PDF)

Discordant clinical responses in CRIM-positive IPD siblings demonstrate need for prophylactic ITI in the naive setting

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S22-S22

2015

Volltextzugriff (PDF)

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

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

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

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

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

Genomics Integration Into Nephrology Practice

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

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

Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

Creation and Implementation of Bioethics Educational Material for Genetic Counseling Training Programs

Impact of newborn screening on families in the case of Pompe disease

Impact of social media use in Fabry and Gaucher diseases

Genetic counseling dilemma in neuronal ceroid lipofuscinosis associated with variants of unknown significance in whole exome sequencing: A case report

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

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

Albinism and Developmental Delay: The Need to Test for 15q11-q13 Deletion

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

Do the benefits outweigh the harms? Views of patients with later onset LSD on newborn screening

Clinomics Implementation in the Mayo Clinic Nephrology Practice: PO1666

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

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

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

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

A study to identify individuals at risk to be affected with late-onset Pompe disease with previous non-specific diagnoses

Discordant clinical responses in CRIM-positive IPD siblings demonstrate need for prophylactic ITI in the naive setting

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