What is she best known for?
The fields of study she is best known for:
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.
Her most cited work include:
- Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities (467 citations)
- Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements (321 citations)
- Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. (298 citations)
What are the main themes of her work throughout her whole career to date?
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
- Pathology and related Genetic counseling,
- Pediatrics that intertwine with fields like Intensive care.
Seema R. Lalani studied Copy-number variation and Genomics that intersect with Mendelian inheritance.
Her Phenotype study incorporates themes from Mutation and Allele.
She most often published in these fields:
- Genetics (76.14%)
- Exome sequencing (32.49%)
- Copy-number variation (27.92%)
What were the highlights of her more recent work (between 2019-2021)?
- Genetics (76.14%)
- Missense mutation (17.77%)
- Exome sequencing (32.49%)
In recent papers she was focusing on the following fields of study:
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
- Genetic heterogeneity which connect with Global developmental delay, Mutation and Stroke,
- Ataxia which is related to area like Respiratory chain, Leukoencephalopathy and SDHA.
Between 2019 and 2021, her most popular works were:
- Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. (14 citations)
- De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. (9 citations)
- Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings. (5 citations)
In her most recent research, the most cited papers focused on:
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.
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