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Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea[S]

Journal of lipid research, 2017-06, Vol.58 (6), p.1230-1237

2017

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Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Molecular genetics and metabolism, 2016-09, Vol.119 (1-2), p.160-167

2016

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Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis

Annals of neurology, 2007-12, Vol.62 (6), p.609-617

2007

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A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

American journal of human genetics, 2012-07, Vol.91 (1), p.202-208

2012

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Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency

World journal of gastroenterology : WJG, 2015-01, Vol.21 (3), p.1001-1008

Yuritzi Santillán-Hernández Enory Almanza-Miranda Winnie W Xin Kendrick Goss Aurea Vera-Loaiza María T Gorráez-de la Mora Raul E Pi?a-Aguilar

2015

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Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families

PloS one, 2012-01, Vol.7 (1), p.e29729-e29729

2012

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Mass Spectrometry-based Protein Profiling to Determine the Cause of Lysosomal Storage Diseases of Unknown Etiology

Molecular & cellular proteomics, 2009-07, Vol.8 (7), p.1708-1718

2009

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Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4

Journal of medical genetics, 2010-11, Vol.47 (11), p.786-790

2010

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Mutation in 5′ upstream region of GCHI gene causes familial dopa-responsive dystonia

Movement disorders, 2011-09, Vol.26 (11), p.2140-2141

2011

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An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation

BMC medical genetics, 2012-06, Vol.13 (1), p.50-50

2012

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Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort

Genetics in medicine, 2023-02, Vol.25 (2), p.100317-100317, Article 100317

2023

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Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

PloS one, 2012-09, Vol.7 (9)

2012

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Science (American Association for the Advancement of Science), 2015-03, Vol.347 (6229), p.1436-1441

2015

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Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk

The Journal of molecular diagnostics : JMD, 2024-03, Vol.26 (3), p.202-212

2024

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Huntington Disease: Molecular Diagnostics Approach

Current Protocols in Human Genetics, 2015-10, Vol.87 (1), p.9.26.1-9.26.23

2015

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Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk: Laboratory Experience and Considerations

The Journal of molecular diagnostics : JMD, 2024-03, Vol.26 (3), p.202-212

2024

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Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy

The American journal of medicine, 2018-02, Vol.131 (2), p.200.e1-200.e8

2018

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Molecular basis of CLN2 disease: A review and classification of TPP1 gene variants reported worldwide

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S97-S97

2018

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Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers

Journal of proteome research, 2017-10, Vol.16 (10), p.3787-3804

2017

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Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings

Human mutation, 2007-01, Vol.28 (1), p.1-12

2007

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The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina

Biochimica et biophysica acta. Molecular basis of disease, 2015-10, Vol.1852 (10), p.2301-2311

2015

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Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress

Angiogenesis (London), 2013-04, Vol.16 (2), p.387-404

2013

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Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America

Gene, 2013-03, Vol.516 (1), p.114-121

2013

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Expanding the clinical spectrum of the lysosomal disorders with whole exome sequencing

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S60-S60

2015

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Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Diagnostic algorithm and best practice guidelines for a timely diagnosis

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S61-S61

2016

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Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea[S]

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families

Mass Spectrometry-based Protein Profiling to Determine the Cause of Lysosomal Storage Diseases of Unknown Etiology

Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4

Mutation in 5′ upstream region of GCHI gene causes familial dopa-responsive dystonia

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation

Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort

Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk

Huntington Disease: Molecular Diagnostics Approach

Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk: Laboratory Experience and Considerations

Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy

Molecular basis of CLN2 disease: A review and classification of TPP1 gene variants reported worldwide

Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers

Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina

Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress

Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America

Expanding the clinical spectrum of the lysosomal disorders with whole exome sequencing

Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Diagnostic algorithm and best practice guidelines for a timely diagnosis

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