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Succinate Dehydrogenase Kidney Cancer: An Aggressive Example of the Warburg Effect in Cancer

The Journal of urology, 2012-12, Vol.188 (6), p.2063-2071

2012

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Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies

American journal of human genetics, 2010-05, Vol.86 (5), p.730-742

2010

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Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30‐year‐old mystery

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1531-1535

2010

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Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome

Genes chromosomes & cancer, 2011-06, Vol.50 (6), p.466-477

2011

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An Expanded Role for HLA Genes: HLA-B Encodes a microRNA that Regulates IgA and Other Immune Response Transcripts

Frontiers in immunology, 2017-05, Vol.8, p.583-583

2017

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Mung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichment

PloS one, 2014-07, Vol.9 (7), p.e103491-e103491

2014

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A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia

Molecular genetics and metabolism, 2010-10, Vol.101 (2-3), p.238-245

2010

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A Hemoglobin Variant Associated with Neonatal Cyanosis and Anemia

The New England journal of medicine, 2011-05, Vol.364 (19), p.1837-1843

2011

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Mosaic maternal uniparental disomy of chromosome 15 in Prader–Willi syndrome: Utility of genome‐wide SNP array

American journal of medical genetics. Part A, 2013-01, Vol.161 (1), p.166-171

2013

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Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene

Human mutation, 1998, Vol.12 (6), p.417-423

1998

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Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia

Movement disorders, 2008-07, Vol.23 (9), p.1303-1306

2008

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Mutations in the human TWIST gene

Human mutation, 2000-02, Vol.15 (2), p.150-155

2000

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Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis)

Plastic and reconstructive surgery (1963), 2004-06, Vol.113 (7), p.1899-1909

2004

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Detection of germline deletions using real‐time quantitative polymerase chain reaction in Japanese patients with von Hippel–Lindau disease

Cancer science, 2006-05, Vol.97 (5), p.400-405

2006

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Molecular and genetic characterization of sarcospan : insights into sarcoglycan-sarcospan interactions

Human molecular genetics, 2000-08, Vol.9 (13), p.2019-2027

2000

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A novel Indian β‐thalassemia mutation in the CACCC box of the promoter region

European journal of haematology, 2006-12, Vol.77 (6), p.530-532

2006

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Hypogonadotrophic hypogonadism due to intrasellar hemangioblastoma in von Hippel-Lindau syndrome

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.549-551

2009

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Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features

Journal of neurology, neurosurgery and psychiatry, 2000-05, Vol.68 (5), p.661-664

2000

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Somatic VHL gene deletion and point mutation in MEN 2A-associated pheochromocytoma

Oncogene, 2002-01, Vol.21 (3), p.479-482

2002

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OR45 RNA sequencing of two lymphoblastoid cell lines reveals novel microrna transcripts of the MHC

Human immunology, 2016-09, Vol.77, p.38-38

2016

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Genetically Characterized Positive Control Cell Lines Derived from Residual Clinical Blood Samples

Clinical chemistry (Baltimore, Md.), 2005-11, Vol.51 (11), p.2013-2024

2005

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OR17 HLA-B intron derived microrna regulates the posttranscriptional expression of the heavy chain of the immunoglobulin A

Human immunology, 2016-09, Vol.77, p.14-14

2016

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Childhood cerebellar hemangioblastoma does not predict germline or somatic mutations in the von Hippel-Lindau tumor suppressor gene

Annals of neurology, 2002-02, Vol.51 (2), p.257-260

2002

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Limb-Girdle Muscular Dystrophy in the United States

Journal of neuropathology and experimental neurology, 2006-10, Vol.65 (10), p.995-1003

2006

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Mutations in the human TWIST gene

Human mutation, 2000-05, Vol.15 (5), p.479-479

2000

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Succinate Dehydrogenase Kidney Cancer: An Aggressive Example of the Warburg Effect in Cancer

Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies

Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30‐year‐old mystery

Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome

An Expanded Role for HLA Genes: HLA-B Encodes a microRNA that Regulates IgA and Other Immune Response Transcripts

Mung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichment

A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia

A Hemoglobin Variant Associated with Neonatal Cyanosis and Anemia

Mosaic maternal uniparental disomy of chromosome 15 in Prader–Willi syndrome: Utility of genome‐wide SNP array

Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia

Mutations in the human TWIST gene

Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis)

Detection of germline deletions using real‐time quantitative polymerase chain reaction in Japanese patients with von Hippel–Lindau disease

Molecular and genetic characterization of sarcospan : insights into sarcoglycan-sarcospan interactions

A novel Indian β‐thalassemia mutation in the CACCC box of the promoter region

Hypogonadotrophic hypogonadism due to intrasellar hemangioblastoma in von Hippel-Lindau syndrome

Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features

Somatic VHL gene deletion and point mutation in MEN 2A-associated pheochromocytoma

OR45 RNA sequencing of two lymphoblastoid cell lines reveals novel microrna transcripts of the MHC

Genetically Characterized Positive Control Cell Lines Derived from Residual Clinical Blood Samples

OR17 HLA-B intron derived microrna regulates the posttranscriptional expression of the heavy chain of the immunoglobulin A

Childhood cerebellar hemangioblastoma does not predict germline or somatic mutations in the von Hippel-Lindau tumor suppressor gene

Limb-Girdle Muscular Dystrophy in the United States

Mutations in the human TWIST gene

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