B. Marosy

发表

Males With Familial Idiopathic Scoliosis: A Distinct Phenotypic Subgroup

N. Miller, C. M. Justice, M. Clough, 2010, Spine.

Mutations in Alström Protein Impair Terminal Differentiation of Cardiomyocytes

L. Fernandez, Chulan Kwon, D. Valle, 2014, Nature Communications.

Intra-Familial Tests of Association between Familial Idiopathic Scoliosis and Linked Regions on 9q31.3–q34.3 and 16p12.3–q22.2

Alexander F. Wilson, A. F. Wilson, K. Doheny, 2012, Human Heredity.

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.

D. Valle, A. Hamosh, N. Sobreira, 2011, Genome research.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

Multi-Omics Analysis Reveals a HIF Network and Hub Gene EPAS1 Associated with Lung Adenocarcinoma

Xihong Lin, C. Amos, K. Doheny, 2018, EBioMedicine.

Results and lessons from dual extraction of DNA and RNA from formalin-fixed paraffin-embedded breast tumor tissues for a large Cancer epidemiologic study

J. Carpten, J. Palmer, K. Doheny, 2022, BMC genomics.

Identification of Candidate Regions for Familial Idiopathic Scoliosis

Alexander F. Wilson, A. F. Wilson, K. Doheny, 2005, Spine.

Idiopathic Scoliosis: Identification of Candidate Regions on Chromosome 19p13

Alexander F. Wilson, A. F. Wilson, N. Miller, 2006, Spine.

Familial Idiopathic Scoliosis: Evidence of an X-Linked Susceptibility Locus

Alexander F. Wilson, A. F. Wilson, N. Miller, 2003, Spine.

Linkage analysis of genetic loci for kyphoscoliosis on chromosomes 5p13, 13q13.3, and 13q32

Alexander F. Wilson, A. F. Wilson, K. Doheny, 2006, American journal of medical genetics. Part A.

A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia

D. Valle, K. Doheny, K. Hetrick, 2016, Leukemia.

CHD7 Gene Polymorphisms and Familial Idiopathic Scoliosis

Alexander F. Wilson, A. F. Wilson, N. Miller, 2013, Spine.

Evaluation of IRX Genes and Conserved Noncoding Elements in a Region on 5p13.3 Linked to Families with Familial Idiopathic Scoliosis and Kyphosis

Alexander F. Wilson, A. F. Wilson, J. Mullikin, 2016, G3: Genes, Genomes, Genetics.

Identification of susceptibility loci for scoliosis in FIS families with triple curves

Alexander F. Wilson, A. F. Wilson, A. Zorn, 2010, American journal of medical genetics. Part A.

Lack of Association Between the Aggrecan Gene and Familial Idiopathic Scoliosis

Alexander F. Wilson, A. F. Wilson, N. Miller, 2006, Spine.

Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans

Sarah M. Hartz, O. Franco, A. Hofman, 2016, Molecular Psychiatry.

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

K. Doheny, E. Jabs, A. F. Scott, 2014, JAMA ophthalmology.

Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer.

F. Couch, R. Eeles, Z. Kote-Jarai, 2023, JAMA Oncology.

Generating Exome Enriched Sequencing Libraries from Formalin‐Fixed, Paraffin‐Embedded Tissue DNA for Next‐Generation Sequencing

J. Stanford, E. Ostrander, K. Doheny, 2017, Current protocols in human genetics.