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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Nature communications, 2020-07, Vol.11 (1), p.3698-3698, Article 3698

2020

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The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

American journal of hematology, 2009-04, Vol.84 (4), p.208-214

2009

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Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

European journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.152-156

2011

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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

American journal of human genetics, 2016-11, Vol.99 (5), p.1005-1014

2016

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Initial report from the Hunter Outcome Survey

Genetics in medicine, 2008-07, Vol.10 (7), p.508-516

2008

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Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)

Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.534-543

2009

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Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy

Genetics in medicine, 2011-07, Vol.13 (7), p.625-631

2011

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Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-Term Follow-Up Study: A collaborative multi-site approach to newborn screening outcomes research

Genetics in medicine, 2010-12, Vol.12 (Suppl 12), p.S228-S241

2010

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Excessive obesity in offspring of Pima Indian women with diabetes during pregnancy

The New England journal of medicine, 1983-02, Vol.308 (5), p.242-245

1983

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Obesity in offspring of diabetic Pima Indian women despite normal birth weight

Diabetes care, 1987-01, Vol.10 (1), p.76-80

1987

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Fumaric aciduria: Clinical and imaging features

Annals of neurology, 2000-05, Vol.47 (5), p.583-588

2000

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Congenital susceptibility to NIDDM. Role of intrauterine environment

Diabetes (New York, N.Y.), 1988-05, Vol.37 (5), p.622-628

1988

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Gestational diabetes mellitus and impaired glucose tolerance during pregnancy. Long-term effects on obesity and glucose tolerance in the offspring

Diabetes (New York, N.Y.), 1985-06, Vol.34 Suppl 2 (Supplement_2), p.119-122

1985

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Dyssegmental dysplasias: Clinical, radiographic, and morphologic evidence of heterogeneity

American journal of medical genetics, 1987-06, Vol.27 (2), p.295-312

1987

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In utero central nervous system damage in pyruvate dehydrogenase deficiency

Archives of neurology (Chicago), 1988-09, Vol.45 (9), p.987-989

1988

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Correspondence

The American journal of tropical medicine and hygiene, 1984-07, Vol.33 (4), p.739-740

1984

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Mosaicism for ring and isopseudodicentric chromosome 13

Clinical genetics, 1986-01, Vol.29 (1), p.88-91

1986

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Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2)

American journal of medical genetics, 1999-01, Vol.82 (2), p.132-139

1999

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Dominant inheritance of Wiedemann-Beckwith syndrome: Further evidence for transmission of "unstable premutation" through carrier women

American journal of medical genetics, 1989-06, Vol.33 (2), p.155-160

1989

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Macrocephaly with hamartomas: Bannayan-Zonana syndrome

American journal of medical genetics, 1984-10, Vol.19 (2), p.225-234

1984

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Severe early onset obesity and hypopituitarism in a child with a novel SIM1 gene mutation

Endocrinology, diabetes & metabolism case reports, 2020-10, Vol.2020 (1), p.1-5

2020

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Craniosynostosis syndromes in the genomic era

Seminars in pediatric neurology, 2004-12, Vol.11 (4), p.256-261

Aleck, Kirk

2004

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Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis

Molecular genetics and metabolism, 2011-08, Vol.103 (4), p.349-357

2011

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Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy

Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.643-650

2011

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Experience of the nutritional management of infantile onset lysosomal acid lipase deficiency (LALD)

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S51-S51

2018

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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Initial report from the Hunter Outcome Survey

Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)

Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy

Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-Term Follow-Up Study: A collaborative multi-site approach to newborn screening outcomes research

Excessive obesity in offspring of Pima Indian women with diabetes during pregnancy

Obesity in offspring of diabetic Pima Indian women despite normal birth weight

Fumaric aciduria: Clinical and imaging features

Congenital susceptibility to NIDDM. Role of intrauterine environment

Gestational diabetes mellitus and impaired glucose tolerance during pregnancy. Long-term effects on obesity and glucose tolerance in the offspring

Dyssegmental dysplasias: Clinical, radiographic, and morphologic evidence of heterogeneity

In utero central nervous system damage in pyruvate dehydrogenase deficiency

Correspondence

Mosaicism for ring and isopseudodicentric chromosome 13

Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2)

Dominant inheritance of Wiedemann-Beckwith syndrome: Further evidence for transmission of "unstable premutation" through carrier women

Macrocephaly with hamartomas: Bannayan-Zonana syndrome

Severe early onset obesity and hypopituitarism in a child with a novel SIM1 gene mutation

Craniosynostosis syndromes in the genomic era

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis

Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy

Experience of the nutritional management of infantile onset lysosomal acid lipase deficiency (LALD)

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