Her primary scientific interests are in Genetics, Copy-number variation, Comparative genomic hybridization, Gene duplication and Candidate gene. Genetics connects with themes related to Disease in her study. Her work carried out in the field of Copy-number variation brings together such families of science as Concordance, Whole Genome Amplification and Genomics.
Her research investigates the connection between Genomics and topics such as Mendelian inheritance that intersect with problems in Human genetics, Exome sequencing and Exome. Her Comparative genomic hybridization research is multidisciplinary, incorporating perspectives in Phenotype, SNP genotyping, Copy number analysis and Tag SNP. Her Gene duplication research incorporates themes from Penetrance, Microcephaly, Locus and Macrocephaly.
Seema R. Lalani spends much of her time researching Genetics, Exome sequencing, Copy-number variation, Phenotype and Hypotonia. Her research related to Comparative genomic hybridization, Gene, Missense mutation, Intellectual disability and Chromosome might be considered part of Genetics. Her research in Comparative genomic hybridization focuses on subjects like Breakpoint, which are connected to Chromosome breakage.
Her Exome sequencing research also works with subjects such as
Her primary areas of investigation include Genetics, Missense mutation, Exome sequencing, Phenotype and Hypotonia. Her research on Genetics often connects related areas such as Epilepsy. The study incorporates disciplines such as Intellectual disability, Zinc finger, Frameshift mutation, Haploinsufficiency and Autism spectrum disorder in addition to Missense mutation.
Her Exome sequencing research includes themes of Bioinformatics, Dysgenesis, Poor Feeding, Pediatrics and Genetic testing. Her Phenotype study integrates concerns from other disciplines, such as Ossification, Skull and Saethre–Chotzen syndrome. Her research on Hypotonia also deals with topics like
The scientist’s investigation covers issues in Exome sequencing, Hypotonia, Pediatrics, Missense mutation and Genetics. Her Exome sequencing research is multidisciplinary, incorporating elements of Consanguinity, Respiratory arrest, Critically ill and Genetic testing. Her Hypotonia research includes themes of Phenotype, Immunology and MAPK/ERK pathway.
Her research in Pediatrics intersects with topics in Intensive care, Cohort study, Medical diagnosis and Cohort. Her Missense mutation research is multidisciplinary, incorporating elements of Neurodevelopmental disorder, Haploinsufficiency and Intellectual disability. As a part of the same scientific study, she usually deals with the Genetics, concentrating on Recurrence risk and frequently concerns with Proband.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nicola Brunetti-Pierri;Jonathan S. Berg;Fernando Scaglia;John Belmont.
Nature Genetics (2008)
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Seema R. Lalani;Arsalan M. Safiullah;Susan D. Fernbach;Karine C. Harutyunyan.
American Journal of Human Genetics (2006)
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
Pengfei Liu;Ayelet Erez;Sandesh C.Sreenath Nagamani;Shweta U. Dhar.
Detection of clinically relevant exonic copy‐number changes by array CGH
Philip M. Boone;Carlos A. Bacino;Chad A. Shaw;Patricia A. Eng.
Human Mutation (2010)
22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome
Shay Ben-Shachar;Zhishuo Ou;Chad A. Shaw;John W. Belmont.
American Journal of Human Genetics (2008)
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
Linyan Meng;Linyan Meng;Mohan Pammi;Anirudh Saronwala;Pilar Magoulas;Pilar Magoulas.
JAMA Pediatrics (2017)
Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
Ian M. Campbell;Bo Yuan;Caroline Robberecht;Rolph P. Pfundt.
American Journal of Human Genetics (2014)
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Fadi F. Hamdan;Candace T. Myers;Patrick Cossette;Philippe Lemay.
American Journal of Human Genetics (2017)
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.
Trilochan Sahoo;Sau Wai Cheung;Patricia Ward;Sandra Darilek.
Genetics in Medicine (2006)
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture
Lisenka E.L.M. Vissers;Samarth S. Bhatt;Irene M. Janssen;Zhilian Xia.
Human Molecular Genetics (2009)
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