I. Campbell

发表

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

Matthew N. Bainbridge, Christine M. Eng, Regis A. James, 2016, Genome Medicine.

Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

J. Rosenfeld, C. Shaw, S. Lalani, 2021, Journal of Medical Genetics.

Secondary findings and carrier test frequencies in a large multiethnic sample

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, Genome Medicine.

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

P. Stankiewicz, M. Rao, Ankita Patel, 2013, Genome research.

Vaccine‐associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray

Magalie S Leduc, Ankita Patel, C. Shaw, 2014, Clinical and experimental immunology.

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates

J. Lupski, D. Schwartz, J. Akey, 2015, PLoS genetics.

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

E. Zackai, R. Gur, K. Sullivan, 2018, American journal of medical genetics. Part A.

A Case of Prenatally Diagnosed Periventricular Nodular Heterotopia in a Surviving Male Patient with FLNA Mutation

E. Zackai, I. Campbell, D. Zarnow, 2021, Journal of Pediatric Neurology.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

J. Rosenfeld, C. Shaw, Marilyn C. Jones, 2022, American journal of medical genetics. Part A.

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

L. Vissers, R. Pfundt, P. Stankiewicz, 2014, American journal of human genetics.

A Not So Common Infection in an Extremely Low-Birth-Weight Infant

W. Fox, I. Campbell, P. Capucilli, 2020, Clinical pediatrics.

Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm

C. Shaw, J. Lupski, D. Muzny, 2018, Journal of Pediatric Genetics.

Somatic mosaicism: implications for disease and transmission genetics.

Chad A Shaw, Pawel Stankiewicz, P. Stankiewicz, 2015, Trends in genetics : TIG.

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

J. Lupski, R. Gibbs, E. Boerwinkle, 2014, Cell.

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

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

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.

Regis A. James, P. Stankiewicz, C. Shaw, 2014, American journal of human genetics.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

W. Chung, J. Lupski, R. Gibbs, 2015, Neuron.

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

P. Stankiewicz, J. Lupski, J. Scull, 2014, American journal of human genetics.

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements

P. Stankiewicz, A. Breman, C. Shaw, 2018, Genome research.

Mus81 and converging forks limit the mutagenicity of replication fork breakage

C. Shaw, J. Lupski, I. Campbell, 2015, Science.

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.

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination

J. Rosenfeld, P. Stankiewicz, Ankita Patel, 2014, BMC Biology.

Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2013, Human mutation.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

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

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression

E. Zackai, R. Gur, B. Morrow, 2022, medRxiv.

Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination

Anna Gambin, Tomasz Gambin, Chad A. Shaw, 2015, Nucleic acids research.

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.

J. Lupski, R. Gibbs, E. Boerwinkle, 2013, JAMA neurology.

Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening

I. Campbell, C. Ficicioglu, Jessica I. Gold, 2021, International journal of neonatal screening.

NetComm: a network analysis tool based on communicability

Edward S. Chen, Ian M. Campbell, Regis A. James, 2014, Bioinform..

Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy

Ankita Patel, Chad A. Shaw, Carlos A. Bacino, 2013, PLoS genetics.

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

C. Shaw, J. Lupski, R. Gibbs, 2016, Human mutation.

Incidental copy-number variants identified by routine genome testing in a clinical population

P. Stankiewicz, Ankita Patel, C. Shaw, 2012, Genetics in Medicine.

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2012, Genetics in Medicine.

Screening and familial characterization of copy‐number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure

P. Stankiewicz, C. Shaw, A. Zinn, 2013, American journal of medical genetics. Part A.

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Gao T. Wang, Mahshid S. Azamian, M. Hurles, 2013, American journal of human genetics.

Mutations in VRK 1 AssociatedWith ComplexMotor and Sensory Axonal Neuropathy PlusMicrocephaly

J. Lupski, R. Gibbs, E. Boerwinkle, 2013 .

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

R. Ganetzky, I. Helbig, A. Gropman, 2022, Molecular genetics and metabolism reports.

Isolation of Aggressive Behavior Mutants in Drosophila Using a Screen for Wing Damage

I. Campbell, H. Dierick, Amanda L. Thomas, 2017, Genetics.

Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

I. Campbell, Sarah E. Sheppard, Wen‐Han Tan, 2021, Scientific Reports.

Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases.

K. Sullivan, I. Campbell, M. Lambert, 2021, The Journal of allergy and clinical immunology.

FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia

C. Shaw, P. Donahoe, I. Campbell, 2021, Journal of Pediatric Genetics.

The experience of one pediatric geneticist with telemedicine‐based clinical diagnosis

E. Zackai, I. Campbell, B. Keena, 2022, American journal of medical genetics. Part A.

Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.

E. Zackai, I. Krantz, R. Ganetzky, 2022, Pediatrics.

TGFBR2 deletion in a 20‐month‐old female with developmental delay and microcephaly

P. Stankiewicz, S. Cheung, S. Lalani, 2011, American journal of medical genetics. Part A.