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The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

Molecular genetics and metabolism, 2016-04, Vol.117 (4), p.393-400

2016

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Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

PLoS genetics, 2019-05, Vol.15 (5), p.e1008143

2019

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Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics

Annual review of genomics and human genetics, 2008-01, Vol.9 (1), p.359-386

2008

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Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase

Science translational medicine, 2017-06, Vol.9 (393)

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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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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Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments

EMBO molecular medicine, 2018-01, Vol.10 (1), p.1-3

2018

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ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

PLoS genetics, 2017-02, Vol.13 (2), p.e1006481-e1006481

2017

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Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

PLoS genetics, 2011-10, Vol.7 (10), p.e1002325-e1002325

2011

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Effect of the Secretory Small GTPase Rab27B on Breast Cancer Growth, Invasion, and Metastasis

JNCI : Journal of the National Cancer Institute, 2010-06, Vol.102 (12), p.866-880

2010

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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis

Clinical journal of the American Society of Nephrology, 2013-04, Vol.8 (4), p.649-657

2013

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A disease‐associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity

Human mutation, 2017-12, Vol.38 (12), p.1751-1760

2017

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Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group

Orphanet journal of rare diseases, 2021-07, Vol.16 (1), p.1-308, Article 308

2021

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Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

Molecular genetics and metabolism, 2015-12, Vol.116 (4), p.223-225

2015

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Prospective Evaluation of Kidney Disease in Joubert Syndrome

Clinical journal of the American Society of Nephrology, 2017-12, Vol.12 (12), p.1962-1973

2017

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DDX58 and Classic Singleton-Merten Syndrome

Journal of clinical immunology, 2019-01, Vol.39 (1), p.75-80

2019

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York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

Molecular genetics and metabolism, 2015-03, Vol.114 (3), p.474-482

2015

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MGM and Undiagnosed Diseases

Molecular genetics and metabolism, 2024-01, Vol.141 (1), p.108125-108125, Article 108125

Gahl, William A.

2024

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Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis

Molecular genetics and metabolism, 2020-09, Vol.131 (1-2), p.267-276

2020

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Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation

PloS one, 2018-03, Vol.13 (3), p.e0194193-e0194193

2018

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The clinical spectrum of Erdheim-Chester disease: an observational cohort study

Blood advances, 2017-02, Vol.1 (6), p.357-366

2017

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Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease

The Journal of clinical investigation, 2015-08, Vol.125 (8), p.3178-3192

2015

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Mitochondrial Autophagy Promotes Cellular Injury in Nephropathic Cystinosis

Journal of the American Society of Nephrology, 2010-02, Vol.21 (2), p.272-283

2010

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DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

Human mutation, 2013-06, Vol.34 (6), p.827-835

2013

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FOXR1 regulates stress response pathways and is necessary for proper brain development

PLoS genetics, 2021-11, Vol.17 (11), p.e1009854-e1009854

2021

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The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics

Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase

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

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

Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

Effect of the Secretory Small GTPase Rab27B on Breast Cancer Growth, Invasion, and Metastasis

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis

A disease‐associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity

Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

Prospective Evaluation of Kidney Disease in Joubert Syndrome

DDX58 and Classic Singleton-Merten Syndrome

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

MGM and Undiagnosed Diseases

Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis

Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation

The clinical spectrum of Erdheim-Chester disease: an observational cohort study

Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease

Mitochondrial Autophagy Promotes Cellular Injury in Nephropathic Cystinosis

DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

FOXR1 regulates stress response pathways and is necessary for proper brain development

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