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Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

Journal of medical genetics, 2002-09, Vol.39 (9), p.623-633

2002

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Stemming the tide: glycosphingolipid synthesis inhibitors as therapy for storage diseases

Glycobiology (Oxford), 2000-12, Vol.10 (12), p.1249-1258

2000

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Microglial Activation Precedes Acute Neurodegeneration in Sandhoff Disease and Is Suppressed by Bone Marrow Transplantation

Proceedings of the National Academy of Sciences - PNAS, 2000-09, Vol.97 (20), p.10954-10959

2000

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Mice lacking both subunits of lysosomal β-hexosaminidase display gangliosidosis and mucopolysaccharidosis

Nature genetics, 1996-11, Vol.14 (3), p.348-352

1996

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Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice

The Journal of clinical investigation, 1998-05, Vol.101 (9), p.1881-1888

1998

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Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

Human genetics, 2001-09, Vol.109 (3), p.311-318

2001

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Detection of Chromosomal Aberrations by a Whole-Genome Microsatellite Screen

American journal of human genetics, 2000-02, Vol.66 (2), p.419-427

2000

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The African Origin of the Common Mutation in African American Patients with Glycogen-Storage Disease Type II

American journal of human genetics, 1998-04, Vol.62 (4), p.991-994

1998

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Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors

Human molecular genetics, 2015-06, Vol.24 (11), p.3050-3057

2015

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Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation

Blood, 2001-01, Vol.97 (1), p.327-329

2001

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Testing for interaction between maternal smoking and TGFA genotype among oral cleft cases born in Maryland 1992-1996

The Cleft palate-craniofacial journal, 1997-09, Vol.34 (5), p.447-454

1997

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The folding and cell surface expression of CD4 requires glycosylation

The Journal of biological chemistry, 1992-02, Vol.267 (5), p.3268-3273

1992

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Neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum and the correlation of prognosis with physical findings

American journal of medical genetics, 1995-12, Vol.60 (6), p.535-540

1995

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Pompe disease diagnosis and management guideline

Genetics in medicine, 2006-05, Vol.8 (5), p.267-288

2006

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Radiologic changes in infancy in McKusick cartilage hair hypoplasia

American journal of medical genetics, 1999-10, Vol.86 (4), p.312-315

1999

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Distribution of enzyme-bearing cells in GM2 gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation

Acta neuropathologica, 2000-02, Vol.99 (2), p.161-168

2000

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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

American journal of human genetics, 2018-10, Vol.103 (4), p.553-567

2018

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Global gene expression in a type 2 Gaucher disease brain This manuscript is dedicated to RM's greatest teachers-her children, Matt, Zeke, Sam and Katy

Molecular genetics and metabolism, 2004-12, Vol.83 (4), p.288-296

Tifft, C J

2004

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G.P.95 Two sibs with early onset myopathy with areflexia, respiratory distress, and dysphagia (EMARDD) due to homozygous exon 7 deletion in MEGF10

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.870-871

2012

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Molecular pathophysiology in Tay–Sachs and Sandhoff diseases as revealed by gene expression profiling

Human molecular genetics, 2002-05, Vol.11 (11), p.1343-1351

2002

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Effect of genetic diagnosis on patients with previously undiagnosed disease

Yearbook of Paediatric Endocrinology, 2019-09

2019

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Identification of Domains in Human β-Hexosaminidase That Determine Substrate Specificity

The Journal of biological chemistry, 1996-07, Vol.271 (29), p.17377-17382

1996

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The β-hexosaminidase Deficiency Disorders: Development of a Clinical Paradigm in the Mouse

Annals of medicine (Helsinki), 1997, Vol.29 (6), p.557-561

1997

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Quantitative dysmorphology assessment in Fabry disease

Genetics in medicine, 2006-02, Vol.8 (2), p.96-101

2006

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Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls

American journal of medical genetics, 1999-09, Vol.86 (3), p.269-273

1999

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Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

Stemming the tide: glycosphingolipid synthesis inhibitors as therapy for storage diseases

Microglial Activation Precedes Acute Neurodegeneration in Sandhoff Disease and Is Suppressed by Bone Marrow Transplantation

Mice lacking both subunits of lysosomal β-hexosaminidase display gangliosidosis and mucopolysaccharidosis

Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

Detection of Chromosomal Aberrations by a Whole-Genome Microsatellite Screen

The African Origin of the Common Mutation in African American Patients with Glycogen-Storage Disease Type II

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors

Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation

Testing for interaction between maternal smoking and TGFA genotype among oral cleft cases born in Maryland 1992-1996

The folding and cell surface expression of CD4 requires glycosylation

Neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum and the correlation of prognosis with physical findings

Pompe disease diagnosis and management guideline

Radiologic changes in infancy in McKusick cartilage hair hypoplasia

Distribution of enzyme-bearing cells in GM2 gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

Global gene expression in a type 2 Gaucher disease brain This manuscript is dedicated to RM's greatest teachers-her children, Matt, Zeke, Sam and Katy

G.P.95 Two sibs with early onset myopathy with areflexia, respiratory distress, and dysphagia (EMARDD) due to homozygous exon 7 deletion in MEGF10

Molecular pathophysiology in Tay–Sachs and Sandhoff diseases as revealed by gene expression profiling

Effect of genetic diagnosis on patients with previously undiagnosed disease

Identification of Domains in Human β-Hexosaminidase That Determine Substrate Specificity

The β-hexosaminidase Deficiency Disorders: Development of a Clinical Paradigm in the Mouse

Quantitative dysmorphology assessment in Fabry disease

Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls

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