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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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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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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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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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Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy

American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2102-2107

2021

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Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency

Molecular genetics and metabolism, 2020-05, Vol.130 (1), p.49-57

2020

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Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients

Molecular genetics and metabolism, 2017-08, Vol.121 (4), p.336-343

2017

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The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.103-115

2016

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Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

Human genetics, 2017-04, Vol.136 (4), p.409-420

2017

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Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.52-52, Article 52

2019

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PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells

JCI insight, 2019-02, Vol.4 (4)

2019

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Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease

Clinical journal of the American Society of Nephrology, 2010-06, Vol.5 (6), p.972-984

2010

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Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report

BMC medical genetics, 2018-05, Vol.19 (1), p.80-80, Article 80

2018

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Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

Pediatric radiology, 2009-02, Vol.39 (2), p.100-111

2009

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Cysteamine Toxicity in Patients with Cystinosis

The Journal of pediatrics, 2011-12, Vol.159 (6), p.1004-1011

2011

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Plasma chitotriosidase enzyme activity as a novel therapeutic monitor for cysteamine treatment in nephropathic cystinosis: A retrospective validation study

Molecular genetics and metabolism, 2024-05, Vol.142 (1), p.108454-108454, Article 108454

2024

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Clinical, Molecular, and Cellular Features of Non-Puerto Rican Hermansky–Pudlak Syndrome Patients of Hispanic Descent

Journal of investigative dermatology, 2011-12, Vol.131 (12), p.2394-2400

2011

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Congenital Hepatic Fibrosis and Portal Hypertension in Autosomal Dominant Polycystic Kidney Disease

Journal of pediatric gastroenterology and nutrition, 2012-01, Vol.54 (1), p.83-89

2012

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Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity

Hypertension (Dallas, Tex. 1979), 2022-01, Vol.79 (1), p.60-75

2022

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CTNS molecular genetics profile in a Persian nephropathic cystinosis population

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 2017-05, Vol.37 (3), p.301-310

2017

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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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Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

Ophthalmology (Rochester, Minn.), 2018-12, Vol.125 (12), p.1937-1952

2018

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Cellular and clinical report of new Griscelli syndrome type III cases

Pigment cell and melanoma research, 2012-01, Vol.25 (1), p.47-56

2012

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Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations

The New England journal of medicine, 2009-05, Vol.360 (19), p.1960-1970

2009

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

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

Prospective Evaluation of Kidney Disease in Joubert Syndrome

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

Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations

Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells

Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

Cysteamine Toxicity in Patients with Cystinosis

Plasma chitotriosidase enzyme activity as a novel therapeutic monitor for cysteamine treatment in nephropathic cystinosis: A retrospective validation study

Clinical, Molecular, and Cellular Features of Non-Puerto Rican Hermansky–Pudlak Syndrome Patients of Hispanic Descent

Congenital Hepatic Fibrosis and Portal Hypertension in Autosomal Dominant Polycystic Kidney Disease

Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity

CTNS molecular genetics profile in a Persian nephropathic cystinosis population

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

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

Cellular and clinical report of new Griscelli syndrome type III cases

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations

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

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