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Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease

American journal of transplantation, 2006-03, Vol.6 (3), p.557-564

2006

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Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania

American journal of medical genetics. Part C, Seminars in medical genetics, 2003-08, Vol.121C (1), p.18-31

Puffenberger, E.G.

2003

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A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease

Cell, 1994-12, Vol.79 (7), p.1257-1266

1994

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Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

Nature genetics, 2002-10, Vol.32 (2), p.237-244

2002

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Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT

Nature genetics, 2003-05, Vol.34 (1), p.91-96

2003

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A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders

Clinical genetics, 2010-11, Vol.78 (5), p.424-431

2010

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Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5

Brain (London, England : 1878), 2007-05, Vol.130 (7), p.1929-1941

2007

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Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

Human molecular genetics, 1995-05, Vol.4 (5), p.821-830

1995

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Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Nature (London), 1991-07, Vol.352 (6333), p.337-339

1991

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Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

Proceedings of the National Academy of Sciences - PNAS, 2013-02, Vol.110 (9), p.3453-3458

2013

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A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family

Clinical genetics, 2008-09, Vol.74 (3), p.274-278

2008

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Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

Human molecular genetics, 1994-08, Vol.3 (8), p.1217-1225

1994

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Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites

American journal of human genetics, 1999-12, Vol.65 (6), p.1785-1790

1999

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Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2

The New England journal of medicine, 2006-03, Vol.354 (13), p.1370-1377

2006

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Rapid Identification of a Bone Marrow Donor Within a Family Using Single Nucleotide Polymorphisms (SNPs)

Journal of allergy and clinical immunology, 2008-02, Vol.121 (2), p.S82-S82

2008

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Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes

Genome research, 1998-02, Vol.8 (2), p.111-123

1998

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Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene

The Journal of clinical investigation, 1992-05, Vol.89 (5), p.1674-1680

1992

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Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10

American journal of human genetics, 2008-11, Vol.83 (5), p.604-609

2008

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SP18 Diagnostic and Research Uses of SNP Microarrays in Isolated Populations

Journal of biomolecular techniques, 2007-02, Vol.18 (1), p.85-85

Puffenberger, E.

2007

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A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10

Nature genetics, 1993-08, Vol.4 (4), p.351-356

1993

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Osteoporosis-pseudoglioma syndrome: Description of 9 new cases and beneficial response to bisphosphonates

Bone (New York, N.Y.), 2008-09, Vol.43 (3), p.584-590

2008

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Fine mapping of the nail-patella syndrome locus at 9q34

American journal of human genetics, 1997, Vol.60 (1), p.133-142

1997

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Type I glutaric aciduria, part 1: Natural history of 77 patients

American journal of medical genetics. Part C, Seminars in medical genetics, 2003-08, Vol.121C (1), p.38-52

2003

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Diagnosis and treatment of maple syrup disease: a study of 36 patients

Pediatrics (Evanston), 2002-06, Vol.109 (6), p.999-1008

2002

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Immunologic and clinical features of 25 Amish patients with RMRP 70 A → G cartilage hair hypoplasia

Clinical immunology (Orlando, Fla.), 2009-04, Vol.131 (1), p.119-128

2009

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Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease

Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania

A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites

Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2

Rapid Identification of a Bone Marrow Donor Within a Family Using Single Nucleotide Polymorphisms (SNPs)

Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene

Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10

SP18 Diagnostic and Research Uses of SNP Microarrays in Isolated Populations

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10

Osteoporosis-pseudoglioma syndrome: Description of 9 new cases and beneficial response to bisphosphonates

Fine mapping of the nail-patella syndrome locus at 9q34

Type I glutaric aciduria, part 1: Natural history of 77 patients

Diagnosis and treatment of maple syrup disease: a study of 36 patients

Immunologic and clinical features of 25 Amish patients with RMRP 70 A → G cartilage hair hypoplasia

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