N. Sobreira

发表

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

D. Valle, A. Hamosh, N. Sobreira, 2015, Human mutation.

The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits

C. Shaw, J. Lupski, R. Gibbs, 2020, bioRxiv.

The utility of exome sequencing for fetal pleural effusions

D. Valle, A. Hamosh, N. Sobreira, 2020, Prenatal diagnosis.

Insights into genetics, human biology and disease gleaned from family based genomic studies

M. Gerstein, D. MacArthur, J. Rosenfeld, 2019, Genetics in Medicine.

Sclerocornea in a patient with van den Ende–Gupta syndrome homozygous for a SCARF2 microdeletion

D. Valle, T. de Ravel, I. Casteels, 2014, American journal of medical genetics. Part A.

Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

Elizabeth T. Cirulli, Jonathan Pevsner, David B. Goldstein, 2010, PLoS genetics.

Microdeletions of 3q29 confer high risk for schizophrenia.

D. Cutler, G. Satten, S. Warren, 2010, American journal of human genetics.

Variant‐level matching for diagnosis and discovery: Challenges and opportunities

J. Lupski, S. Jhangiani, M. Bamshad, 2022, Human mutation.

De novo mutation and identity-by-descent drive disease haplotypes, biallelic traits and multilocus pathogenic variation

C. Shaw, J. Lupski, R. Gibbs, 2022, bioRxiv.

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

M. Boerries, I. Wilson, T. Eisenberger, 2022, American journal of human genetics.

Insights into genetics, human biology and disease gleaned from family based genomic studies

M. Gerstein, D. MacArthur, J. Rosenfeld, 2019, Genetics in Medicine.

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

J. Lupski, Zhihong Wu, Yiping Shen, 2019, Genetics in Medicine.

Response to Biesecker et al.

C. Bult, J. Lupski, R. Gibbs, 2021, American journal of human genetics.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

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

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

J. Lupski, Zhihong Wu, Yiping Shen, 2019, Genetics in Medicine.

New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web‐Based Tool for Linking Investigators with an Interest in the Same Gene

D. Valle, A. Hamosh, N. Sobreira, 2015, Human mutation.

Embryonic lethal genetic variants and chromosomally normal pregnancy loss

V. Jobanputra, B. Vardarajan, N. Sobreira, 2020, medRxiv.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Melanie Bahlo, Elsdon Storey, David Valle, 2019, American journal of human genetics.

Loss of function variants in PCYT1A causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation

D. Valle, N. Sobreira, J. Christodoulou, 2019, bioRxiv.

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

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

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Katherine R. Smith, P. Lockhart, D. Zee, 2019, American journal of human genetics.

GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK

D. Valle, N. Sobreira, J. Majewski, 2015, Human mutation.

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

J. Lupski, S. Jhangiani, K. Doheny, 2021, Orphanet Journal of Rare Diseases.

Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome

C. Haldeman-Englert, G. Semenza, Elizabeth Walek, 2022, PLoS genetics.

Lessons learned from the search for genes responsible for rare Mendelian disorders

D. Valle, N. Sobreira, Nara Sobreira, 2016, Molecular genetics & genomic medicine.

A Missense Variant in CASKIN1’s Proline-Rich Region Segregates with Psychosis in a Three-Generation Family

X. Yang, D. Avramopoulos, N. Sobreira, 2023, Genes.

Human genome meeting 2016

Kumar Kshitij Patel, A. Pang, W. Chung, 2016, Human Genomics.

The impact of GeneMatcher on international data sharing and collaboration

K. Doheny, C. Antonescu, A. Hamosh, 2022, Human mutation.

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

Stephanie E. Vallee, D. Valle, S. Szelinger, 2016, American journal of human genetics.

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

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

Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.

D. Valle, N. Sobreira, H. Bjornsson, 2019, JIMD reports.

Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A

D. Avramopoulos, K. Burns, N. Sobreira, 2018, Neurology: Genetics.

Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families

K. Doheny, K. Hetrick, N. Sobreira, 2014, Molecular Syndromology.