Jill A. Rosenfeld spends much of her time researching Genetics, Comparative genomic hybridization, Copy-number variation, Autism and Bioinformatics. Her study on Genetics is mostly dedicated to connecting different topics, such as Autism spectrum disorder. Her work deals with themes such as Human genome, Chromosome Breakpoints, Breakpoint, Segmental duplication and Small nuclear ribonucleoprotein polypeptide N, which intersect with Comparative genomic hybridization.
Jill A. Rosenfeld has included themes like Genomics, Exome, Gene duplication, Genetic heterogeneity and Candidate gene in her Copy-number variation study. Her Bioinformatics research is multidisciplinary, incorporating perspectives in Prenatal diagnosis, Disease, Heart disease, Atrial septum and Genetic testing. Jill A. Rosenfeld has researched Intellectual disability in several fields, including Microdeletion syndrome, Haploinsufficiency and Locus.
Jill A. Rosenfeld mainly focuses on Genetics, Phenotype, Intellectual disability, Gene and Missense mutation. Her Genetics study is mostly concerned with Copy-number variation, Comparative genomic hybridization, Haploinsufficiency, Exome sequencing and Mutation. Her research investigates the connection between Copy-number variation and topics such as Gene duplication that intersect with issues in Proband.
Jill A. Rosenfeld interconnects Microarray, Prenatal diagnosis and Segmental duplication in the investigation of issues within Comparative genomic hybridization. Her Intellectual disability research integrates issues from Bioinformatics, Autism, Autism spectrum disorder, Microcephaly and Speech delay. Her study focuses on the intersection of Missense mutation and fields such as Hypotonia with connections in the field of Ataxia.
Her main research concerns Genetics, Phenotype, Missense mutation, Exome sequencing and Gene. Her Genetics study frequently links to other fields, such as Autism. Her Phenotype research is multidisciplinary, relying on both CRISPR, Mutation, CAD, Germline and Disease.
Her research on Missense mutation also deals with topics like
Her scientific interests lie mostly in Genetics, Missense mutation, Exome sequencing, Intellectual disability and Phenotype. Her research in Genetics focuses on subjects like Autism, which are connected to Speech delay and Mutation. In her study, Transcription factor, Cell fate determination, Chromatin remodeling, Autism spectrum disorder and Zinc finger is inextricably linked to Neurodevelopmental disorder, which falls within the broad field of Missense mutation.
Her study in Exome sequencing is interdisciplinary in nature, drawing from both Neural crest, In silico, Computational biology, Human genetics and Candidate gene. The concepts of her Intellectual disability study are interwoven with issues in Mendelian inheritance, Bioinformatics, Microarray, Haploinsufficiency and Cohort. Her studies in Phenotype integrate themes in fields like Hypotonia, Muscular hypotonia and Homeostasis.
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A copy number variation morbidity map of developmental delay
Gregory M Cooper;Bradley P Coe;Santhosh Girirajan;Jill A Rosenfeld.
Nature Genetics (2011)
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan;Jill A. Rosenfeld;Gregory M. Cooper;Francesca Antonacci.
Nature Genetics (2010)
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Santhosh Girirajan;Jill A. Rosenfeld;Bradley P. Coe;Sumit Parikh.
The New England Journal of Medicine (2012)
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
Michael E. Talkowski;Jill A. Rosenfeld;Ian Blumenthal;Vamsee Pillalamarri.
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
Raphael Bernier;Christelle Golzio;Bo Xiong;Holly A. Stessman.
A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
Sébastien Jacquemont;Bradley P. Coe;Micha Hersch;Michael H. Duyzend.
American Journal of Human Genetics (2014)
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Bradley P. Coe;Kali Witherspoon;Jill A. Rosenfeld;Bregje W M Van Bon;Bregje W M Van Bon.
Nature Genetics (2014)
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Jennifer E. Posey;Tamar Harel;Pengfei Liu;Jill A. Rosenfeld.
The New England Journal of Medicine (2017)
Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
Megan Y. Dennis;Xander Nuttle;Peter H. Sudmant;Francesca Antonacci.
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
Angela L Duker;Blake C Ballif;Erawati V Bawle;Richard E Person.
European Journal of Human Genetics (2010)
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