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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, 2017-02, Vol.88 (7)

2017

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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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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

American journal of human genetics, 2017-01, Vol.100 (1), p.128-137

2017

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

Nature communications, 2014-02, Vol.5 (1), p.3251-3251, Article 3251

2014

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Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

American journal of human genetics, 2015-04, Vol.96 (4), p.675-681

2015

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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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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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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 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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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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Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

Neurology, 2012-07, Vol.79 (2), p.123

2012

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Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

Molecular genetics & genomic medicine, 2019-06, Vol.7 (6), p.e00676-n/a

2019

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Chitotriosidase as a Measure of Disease Burden in Patients with GM1 and GM2 Gangliosidosis

Molecular genetics and metabolism, 2012-02, Vol.105 (2), p.S20-S20

2012

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Infantile-onset Spinal Muscular Atrophy with Respiratory Distress-1 diagnosed in twenty-year old man

Neuromuscular disorders : NMD, 2011-02, 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

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

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

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

Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

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

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

Cover Image, Volume 38, Issue 10

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

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

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

Chitotriosidase as a Measure of Disease Burden in Patients with GM1 and GM2 Gangliosidosis

Infantile-onset Spinal Muscular Atrophy with Respiratory Distress-1 diagnosed in twenty-year old man

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