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De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

American journal of human genetics, 2012-03, Vol.90 (3), p.502-510

2012

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Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion

American journal of human genetics, 2013-06, Vol.92 (6), p.981-989

2013

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Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome

American journal of human genetics, 2010-08, Vol.87 (2), p.265-273

2010

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Hypermethylation of the CpG Island Near the G^sub 4^C^sub 2^ Repeat in ALS with a C9orf72 Expansion

American journal of human genetics, 2013-06, Vol.92 (6), p.981

2013

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De Novo Pathogenic SCNBA Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

American journal of human genetics, 2012, Vol.90 (3), p.502-510

2012

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Identification of new mutations of the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis

American journal of human genetics, 1995-03, Vol.56 (3), p.592-596

1995

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An index marker map of chromosome 9 provides strong evidence for positive interference

American journal of human genetics, 1993-12, Vol.53 (6), p.1279-1288

1993

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The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6

American journal of human genetics, 1994-06, Vol.54 (6), p.1042-1049

1994

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Gain-of-Function Mutations in SCN11A Cause Familial Episodic Pain

American journal of human genetics, 2013-11, Vol.93 (5), p.957-966

2013

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Introgression of Neandertal- and Denisovan-like Haplotypes Contributes to Adaptive Variation in Human Toll-like Receptors

American journal of human genetics, 2016-01, Vol.98 (1), p.22-33

2016

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Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

American journal of human genetics, 2021-01, Vol.108 (1), p.176-185

2021

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Mapping Genetic Loci That Determine Leukocyte Telomere Length in a Large Sample of Unselected Female Sibling Pairs

American journal of human genetics, 2006-03, Vol.78 (3), p.480-486

2006

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A Genomewide Linkage Study of 1,933 Families Affected by Premature Coronary Artery Disease: The British Heart Foundation (BHF) Family Heart Study

American journal of human genetics, 2005-12, Vol.77 (6), p.1011-1020

2005

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Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination

American journal of human genetics, 1998-09, Vol.63 (3), p.861-869

1998

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A Genomewide Screen for Autism: Strong Evidence for Linkage to Chromosomes 2q, 7q, and 16p

American journal of human genetics, 2001-09, Vol.69 (3), p.570-581

International Molecular Genetic Study of Autism Consortium (IMGSAC)

2001

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Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

American journal of human genetics, 2007-10, Vol.81 (4), p.821-828

2007

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A Combined Linkage-Physical Map of the Human Genome

American journal of human genetics, 2004-12, Vol.75 (6), p.1143-1148

2004

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Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein

American journal of human genetics, 2001-03, Vol.68 (3), p.577-589

2001

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Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator

American journal of human genetics, 2005-11, Vol.77 (5), p.795-806

2005

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Recurrent Mutation of the Gene Encoding sequestosome 1 ( SQSTM1/p62) in Paget Disease of Bone

American journal of human genetics, 2002-06, Vol.70 (6), p.1582-1588

2002

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A Susceptibility Locus for Myopia in the Normal Population Is Linked to the PAX6 Gene Region on Chromosome 11: A Genomewide Scan of Dizygotic Twins

American journal of human genetics, 2004-08, Vol.75 (2), p.294-304

2004

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Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2

American journal of human genetics, 2001-10, Vol.69 (4), p.876-882

2001

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A Second Locus for Familial High Myopia Maps to Chromosome 12q

American journal of human genetics, 1998-11, Vol.63 (5), p.1419-1424

1998

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De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion

Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome

Hypermethylation of the CpG Island Near the G^sub 4^C^sub 2^ Repeat in ALS with a C9orf72 Expansion

Genome Search in Celiac Disease

De Novo Pathogenic SCNBA Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Identification of new mutations of the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis

An index marker map of chromosome 9 provides strong evidence for positive interference

The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6

Gain-of-Function Mutations in SCN11A Cause Familial Episodic Pain

Introgression of Neandertal- and Denisovan-like Haplotypes Contributes to Adaptive Variation in Human Toll-like Receptors

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

Mapping Genetic Loci That Determine Leukocyte Telomere Length in a Large Sample of Unselected Female Sibling Pairs

A Genomewide Linkage Study of 1,933 Families Affected by Premature Coronary Artery Disease: The British Heart Foundation (BHF) Family Heart Study

Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination

A Genomewide Screen for Autism: Strong Evidence for Linkage to Chromosomes 2q, 7q, and 16p

Prevalence and Evolutionary Origins of the del( GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

A Combined Linkage-Physical Map of the Human Genome

Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein

Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator

Recurrent Mutation of the Gene Encoding sequestosome 1 ( SQSTM1/p62) in Paget Disease of Bone

A Susceptibility Locus for Myopia in the Normal Population Is Linked to the PAX6 Gene Region on Chromosome 11: A Genomewide Scan of Dizygotic Twins

Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2

A Second Locus for Familial High Myopia Maps to Chromosome 12q

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