C. Carvalho

发表

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

B. V. van Bon, A. Hoischen, J. Lupski, 2018, American journal of human genetics.

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

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

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

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

A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

J. Lupski, C. Carvalho, Jennifer A. Lee, 2007, Cell.

Complex human chromosomal and genomic rearrangements.

J. Lupski, F. Zhang, C. Carvalho, 2009, Trends in genetics : TIG.

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

J. Lupski, S. Cheung, H. Zoghbi, 2011, Nature Genetics.

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

C. Shaw, J. Lupski, R. Gibbs, 2016, Nucleic acids research.

Mechanisms underlying structural variant formation in genomic disorders

J. Lupski, C. Carvalho, 2016, Nature Reviews Genetics.

Mechanisms for recurrent and complex human genomic rearrangements.

Pengfei Liu, J. Lupski, C. Carvalho, 2012, Current opinion in genetics & development.

Inverted Low‐Copy Repeats and Genome Instability—A Genome‐Wide Analysis

Anna Gambin, Piotr Dittwald, Tomasz Gambin, 2013, Human mutation.

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus.

J. Lupski, C. Stratakis, C. Carvalho, 2018, Journal of the Endocrine Society.

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

B. V. van Bon, A. Hoischen, J. Lupski, 2016, American journal of human genetics.

Molecular and phenotypic characterization of atypical Williams–Beuren syndrome

Joshua C. Euteneuer, J. Lupski, S. Kulkarni, 2014, Clinical genetics.

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

J. Lupski, S. Cheung, F. Zhang, 2020, Human mutation.

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

F. Vezzi, J. Eisfeldt, D. Nilsson, 2019, PLoS genetics.

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

P. Georgii‐Hemming, A. Nordgren, J. Eisfeldt, 2019, Genome Medicine.

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree

P. Stankiewicz, J. Lupski, S. Cheung, 2014, European Journal of Human Genetics.

Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1

J. Rosenfeld, E. Roeder, Ankita Patel, 2014, PloS one.

Complex genomic rearrangements: an underestimated cause of rare diseases

A. Lindstrand, C. Carvalho, Christopher M. Grochowski, 2022, Trends in genetics : TIG.

Cytogenetically visible inversions are formed by multiple molecular mechanisms

A. Breman, J. Lupski, S. Cheung, 2020, 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.

Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

J. Lupski, R. Gibbs, D. Muzny, 2022, Human mutation.

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

J. Lupski, R. Gibbs, S. Jhangiani, 2022, HGG advances.

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, Clinical Epigenetics.

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Lisa T. Emrick, Ivan K. Chinn, J. Rosenfeld, 2018, American journal of human genetics.

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

J. Lupski, M. Rosenfeld, H. Omran, 2013, American journal of human genetics.

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

P. Striano, L. Bird, D. Chitayat, 2022, Brain : a journal of neurology.

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

J. Lupski, R. Gibbs, D. Muzny, 2022, Genome Medicine.

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

J. Lupski, B. Menten, P. Lapunzina, 2013, PLoS genetics.

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.

Ivan K. Chinn, C. Shaw, J. Lupski, 2018, American journal of human genetics.

Structural variation of the human genome: mechanisms, assays, and role in male infertility

J. Lupski, C. Carvalho, Feng Zhang, 2011, Systems biology in reproductive medicine.

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome

David R. Murdock, J. Lupski, R. Gibbs, 2014, BMC Medical Genetics.

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

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

Genomic disorders: A window into human gene and genome evolution

J. Lupski, C. Carvalho, Feng Zhang, 2010, Proceedings of the National Academy of Sciences.

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Klaudia Walter, M. Hurles, P. Stankiewicz, 2017, Cell.

Replicative mechanisms for CNV formation are error prone

J. Lupski, J. Belmont, D. Pehlivan, 2013, Nature Genetics.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

J. Rosenfeld, J. Lupski, R. Gibbs, 2021, HGG advances.

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

J. Lupski, R. Gibbs, D. Muzny, 2021, American journal of human genetics.

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

P. Stankiewicz, C. Shaw, J. Lupski, 2019, Genome Medicine.

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2

C. Shaw, J. Lupski, R. Gibbs, 2019, Cell.

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

Richard A Gibbs, Ali Mentes, Donna M Muzny, 2017, American journal of human genetics.

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

B. V. van Bon, A. V. Vulto-van Silfhout, A. Hoischen, 2015, American journal of human genetics.

Methods developed during the first National Center for Biotechnology Information Structural Variation Codeathon at Baylor College of Medicine

Lon Phan, Todd J. Treangen, Junzhou Wang, 2020, F1000Research.

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

J. Lupski, M. Greenberg, T. Langmann, 2017, Genetics in Medicine.

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

J. Rosenfeld, J. Lupski, R. Gibbs, 2022, American journal of human genetics.

Comprehensive Structural Variant Detection: From Mosaic to Population-Level

Sonja W. Scholz, F. Sedlazeck, D. Pehlivan, 2022, bioRxiv.

Clinical genomics and contextualizing genome variation in the diagnostic laboratory

P. Stankiewicz, J. Lupski, J. Posey, 2020, Expert review of molecular diagnostics.

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

J. Lupski, K. Woodward, Vahid Bahrambeigi, 2019, Genome Medicine.

Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene

J. Sebat, D. Malhotra, D. Rujescu, 2019, Biological Psychiatry.

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes

J. Sebat, D. Malhotra, S. McCarthy, 2018, Human mutation.

Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage‐sensitive genes with clinical severity in genomic disorders

J. Lupski, C. Carvalho, Hongyan Wang, 2017, Human molecular genetics.

Whole‐Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

Daniel Nilsson, Anna Lindstrand, Francesco Vezzi, 2017, Human mutation.

Mechanisms for Complex Chromosomal Insertions

P. Stankiewicz, A. Breman, P. Szafranski, 2016, PLoS genetics.

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

P. Stankiewicz, Ankita Patel, C. Shaw, 2015, Human molecular genetics.

Absence of heterozygosity due to template switching during replicative rearrangements.

M. Hurles, R. Pfundt, P. Stankiewicz, 2015, American journal of human genetics.

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

Suzanne M. McCahan, J. Lupski, C. Carvalho, 2015, PLoS genetics.

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

J. Lupski, C. Carvalho, Philip M Boone, 2011, Genetics in Medicine.

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

P. Stankiewicz, J. Wiszniewska, M. L. Cooper, 2011, Human molecular genetics.

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

P. Stankiewicz, Ankita Patel, C. Shaw, 2009, Human molecular genetics.

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

Lorraine Potocki, Pawel Stankiewicz, Weimin Bi, 2007, American journal of human genetics.

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

J. Lupski, J. Eisfeldt, A. Lindstrand, 2021, Frontiers in Genetics.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

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

Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins

J. Lupski, R. Gibbs, S. Jhangiani, 2017, American journal of medical genetics. Part A.

Chimeric transcripts resulting from complex duplications in chromosome Xq28

J. Lupski, C. Carvalho, Benjamin Alleva, 2015, Human Genetics.

Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome

C. Carvalho, R. Hundley, S. Peters, 2013, Journal of Autism and Developmental Disorders.

Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome

J. Lupski, C. Carvalho, R. Hundley, 2013, Journal of autism and developmental disorders.

The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism

J. Lupski, Z. Warren, C. Carvalho, 2013, Autism research : official journal of the International Society for Autism Research.

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

J. Lupski, S. Cheung, C. Schaaf, 2012, BMC Medical Genetics.

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

J. Lupski, H. Zoghbi, C. Schaaf, 2009, Annals of neurology.

What have studies of genomic disorders taught us about our genome?

J. Lupski, C. Carvalho, A. D. Simmons, 2012, Methods in molecular biology.

Mechanisms for the Generation of Two Quadruplications Associated with Split‐Hand Malformation

J. Lupski, C. Pickering, J. Posey, 2016, Human mutation.

Copy number variation at the breakpoint region of isochromosome 17q.

J. Lupski, C. Carvalho, 2008, Genome research.

Copy number variation at the breakpoint region of isochromosome 17 q

J. Lupski, C. Carvalho, 2008 .

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

P. Stankiewicz, C. Shaw, J. Lupski, 2019, Genome Medicine.

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

J. Sebat, D. Malhotra, S. McCarthy, 2017, Stem cell reports.

Craniofacial phenotypes associated with Robinow syndrome

V. Sutton, C. Carvalho, Matthew J Davis, 2020, American journal of medical genetics. Part A.

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

J. Lupski, R. Gibbs, D. Muzny, 2020, American journal of medical genetics. Part A.

Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome

D. Schwartz, V. Sutton, J. Mazzeu, 2020, American journal of medical genetics. Part A.

Extremity anomalies associated with Robinow syndrome

V. Sutton, C. Carvalho, Matthew J Davis, 2020, American journal of medical genetics. Part A.

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

J. Lupski, S. Cheung, A. Munnich, 2015, American journal of human genetics.

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.

J. Lupski, S. Cheung, N. Katsanis, 2014, American journal of human genetics.

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

J. Lupski, A. Sabo, R. Lewis, 2016, American journal of human genetics.

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy

J. Lupski, R. Gibbs, D. Muzny, 2015, Genetics in Medicine.

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Donna M. Muzny, Yuji Okamoto, Richard A. Gibbs, 2013, Genetics in Medicine.

Altered neuronal network and rescue in a human MECP2 duplication model

J. Lupski, A. Muotri, P. Vanderhaeghen, 2015, Molecular Psychiatry.

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.

J. Lupski, R. Gibbs, D. Muzny, 2014, American journal of human genetics.

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation

I. Krantz, J. Lupski, D. Pehlivan, 2012, Genetics in Medicine.

Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells

J. Sebat, D. Malhotra, S. McCarthy, 2015, npj Schizophrenia.

Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

A. Nordgren, J. Eisfeldt, D. Nilsson, 2018, Human mutation.

A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly

J. Lupski, R. Gibbs, D. Muzny, 2023, American journal of medical genetics. Part A.

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

J. Lupski, Zhihong Wu, Shuyang Zhang, 2019, bioRxiv.

Characterization of the Robinow syndrome skeletal phenotype, bone micro‐architecture, and genotype–phenotype correlations with the osteosclerotic form

V. Sutton, J. Mazzeu, C. Carvalho, 2020, American journal of medical genetics. Part A.

Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.

J. Lupski, R. Gibbs, S. Jhangiani, 2020, Brain : a journal of neurology.

Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping

J. Ragoussis, A. Montpetit, C. Carvalho, 2023, Haemophilia : the official journal of the World Federation of Hemophilia.

A large CRISPR-induced bystander mutation causes immune dysregulation

Mark S. Anderson, Daniel S. Rokhsar, James Zou, 2019, Communications Biology.

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, Clinical Epigenetics.

Comprehensive Structural Variant Detection: From Mosaic to Population-Level

Sonja W. Scholz, F. Sedlazeck, D. Pehlivan, 2023, bioRxiv.

Chimeric transcripts resulting from complex duplications in chromosome Xq28

J. Lupski, C. Carvalho, Benjamin Alleva, 2016, Human Genetics.

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

C. Shaw, J. Lupski, R. Gibbs, 2023, bioRxiv.

Inverted Low‐Copy Repeats and Genome Instability—A Genome‐Wide Analysis

P. Stankiewicz, J. Lupski, C. Carvalho, 2013, Human mutation.

Genomic disorders: A window into human gene and genome evolution

J. Lupski, C. Carvalho, Feng Zhang, 2010, Proceedings of the National Academy of Sciences.

Mechanisms for recurrent and complex human genomic rearrangements.

J. Lupski, C. Carvalho, P. Hastings, 2012, Current opinion in genetics & development.

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.

J. Lupski, R. Gibbs, A. Sabo, 2014, American journal of human genetics.

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

J. Lupski, S. Jhangiani, D. Calame, 2023, Nucleic acids research.

Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain

J. Lupski, B. Menten, P. Lapunzina, 2011 .