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Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Genetics in medicine, 2017-02, Vol.19 (2), p.160-168

2017

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Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Nature communications, 2017-11, Vol.8 (1), p.1257-15, Article 1257

2017

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Desperately seeking solutions

Genetics in medicine, 2022-12, Vol.24 (12), p.2419-2421

2022

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Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Nature communications, 2018-01, Vol.9 (1), p.337-1, Article 337

2018

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Rare diseases: challenges and opportunities for research and public health

Nature reviews. Disease primers, 2024-02, Vol.10 (1), p.13-13, Article 13

2024

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Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

Nature genetics, 2001-08, Vol.28 (4), p.376-380

2001

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Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

Genetics in medicine, 2017-08, Vol.19 (8), p.875-882

2017

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The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Genetics in medicine, 2012-01, Vol.14 (1), p.51-59

2012

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Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)

Genetics in medicine, 2021-02, Vol.23 (2), p.396-407

2021

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Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

Nature communications, 2014-01, Vol.5 (1), p.3251-3251, Article 3251

2014

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Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe hermansky-pudlak syndrome type 2

Pediatric research, 2002-02, Vol.51 (2), p.150-158

2002

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NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Nature genetics, 2011-07, Vol.43 (8), p.732-734

2011

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Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study

Genetics in medicine, 2021-11, Vol.23 (11), p.2067-2075

2021

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Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations

European journal of human genetics : EJHG, 2016-08, Vol.24 (9), p.1268-1273

2016

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Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism

Mucosal immunology, 2022-06, Vol.15 (6), p.1431-1446

2022

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A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings

Genetics in medicine, 2019-08, Vol.21 (8), p.1772-1780

2019

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Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase- associated neurodegeneration

European journal of human genetics : EJHG, 2012-04, Vol.20 (4), p.476-479

2012

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Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience

Genetics in medicine, 2016-12, Vol.18 (12), p.1303-1307

2016

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Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1232-1239

2013

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Ocular nonnephropathic cystinosis : Clinical, biochemical, and molecular correlations

Pediatric research, 2000, Vol.47 (1), p.17-23

2000

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Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

Nature genetics, 1994-10, Vol.8 (2), p.195-202

1994

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Mutations in the glutathione synthetase gene cause 5-oxoprolinuria

Nature genetics, 1996-11, Vol.14 (3), p.361-365

1996

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Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Desperately seeking solutions

Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

Strategic vision for improving human health at The Forefront of Genomics

Rare diseases: challenges and opportunities for research and public health

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe hermansky-pudlak syndrome type 2

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study

Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism

A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase- associated neurodegeneration

Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

Ocular nonnephropathic cystinosis : Clinical, biochemical, and molecular correlations

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

Mutations in the glutathione synthetase gene cause 5-oxoprolinuria

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