Focus on the NIH Undiagnosed Diseases Program: Human Mutation: Vol 33, No 4

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Human Mutation

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Special Issue:Focus on the NIH Undiagnosed Diseases Program

Actin out with filamin: Two sides of the story

KMD: A country-specific genetic variation resource for Korea

Exome and whole-genome sequencing for gene discovery: The future is now!^†

VAR-MD: A tool to analyze whole exome–genome variants in small human pedigrees with mendelian inheritance ^†

Analysis of DNA sequence variants detected by high-throughput sequencing ^†

Detecting false-positive signals in exome sequencing ^†

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia ^†

PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder ^†

Assessing the Enrichment Performance in Targeted Resequencing Experiments ^†

Classification of mismatch repair gene missense variants with PON-MMR ^†

A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling CrebA knockout mouse ^†

Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study ^†

Mutations in the prostaglandin transporter encoding gene SLCO2A1 Cause primary hypertrophic osteoarthropathy and isolated digital clubbing ^†

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity ^†

Rare germline mutations in PALB2 and breast cancer risk: A population-based study ^†

Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss ^†

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers ^†

Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair ^†

SEPT12 mutations cause male infertility with defective sperm annulus ^†

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation ^†

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features ^†

Confirmation of association of FCGR3B but not FCGR3A copy number with susceptibility to autoantibody positive rheumatoid arthritis ^†

Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cells ^†

Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho–GTPase pathway genes in NF1 tumorigenesis ^†

KMD: Korean mutation database for genes related to diseases ^†

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Actin out with filamin: Two sides of the story

KMD: A country-specific genetic variation resource for Korea

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