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Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

Molecular genetics and metabolism, 2015-06, Vol.115 (2-3), p.128-140

2015

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Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Frontiers in medicine, 2017-05, Vol.4, p.62

2017

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Neurologic involvement in patients with atypical Chediak-Higashi disease

Neurology, 2016-04, Vol.86 (14), p.1320

2016

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Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

Molecular genetics and metabolism, 2014-11, Vol.113 (3), p.161-170

2014

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MED23-associated intellectual disability in a non-consanguineous family

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1374-1380

2015

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Brain MRI in patients with GM1 gangliosidosis, type II: novel scoring system correlates with disease progression and severity

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S103-S104

2014

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Effect of early postpartum teaching on primiparas' knowledge of infant behavior and degree of confidence

Research in nursing & health, 1986-09, Vol.9 (3), p.209-214

1986

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A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

The New England journal of medicine, 2011-08, Vol.365 (7), p.611-619

2011

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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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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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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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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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Compound heterozygosity for loss‐of‐function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation

Human mutation, 2017-10, Vol.38 (10), p.1412-1420

2017

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Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia

Human molecular genetics, 2014-01, Vol.23 (2), p.397-407

2014

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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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A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8

Pigment cell and melanoma research, 2012-09, Vol.25 (5), p.584-591

2012

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GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine

Annals of clinical and translational neurology, 2014-03, Vol.1 (3), p.190-198

2014

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Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6

Journal of medical genetics, 2009-12, Vol.46 (12), p.803-810

2009

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MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis

American journal of medical genetics. Part A, 2016-03, Vol.170A (3), p.634-644

2016

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Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation: OPRESCU et al

Human mutation, 2017-10, Vol.38 (10), p.1412-1420

2017

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Cover Image, Volume 38, Issue 10

Human mutation, 2017-10, Vol.38 (10), p.i-i

2017

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Compound Heterozygosity for Loss-of-Function GARS Variants Results in a Multi-System Developmental Syndrome that Includes Severe Growth Retardation

Human mutation, 2017-07, Vol.38 (10), p.1412-1420

2017

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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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Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man

Neuromuscular disorders : NMD, 2011-05, Vol.21 (5), p.353-355

2011

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Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Neurologic involvement in patients with atypical Chediak-Higashi disease

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

MED23-associated intellectual disability in a non-consanguineous family

Brain MRI in patients with GM1 gangliosidosis, type II: novel scoring system correlates with disease progression and severity

Effect of early postpartum teaching on primiparas' knowledge of infant behavior and degree of confidence

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

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

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

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

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

Compound heterozygosity for loss‐of‐function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia

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

A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8

GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine

Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model

Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis

Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation: OPRESCU et al

Cover Image, Volume 38, Issue 10

Compound Heterozygosity for Loss-of-Function GARS Variants Results in a Multi-System Developmental Syndrome that Includes Severe Growth Retardation

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

Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man

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