Author details

Full Name

Nila Patil

Affiliation

ORCID

Career Start Year

1987

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
31440721	Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.	Epilepsia Open	2019
28492532	Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.	Genet Med	2017
16330219	In vivo transcriptional profile analysis reveals RNA splicing and chromatin remodeling as prominent processes for adult neurogenesis.	Mol Cell Neurosci	2006
15723063	Fine-scale recombination patterns differ between chimpanzees and humans.	Nat Genet	2005
14740319	Matching strategies for genetic association studies in structured populations.	Am J Hum Genet	2004
15289472	Segmental phylogenetic relationships of inbred mouse strains revealed by fine-scale analysis of sequence variation across 4.6 mb of mouse genome.	Genome Res	2004
12618364	Genomic DNA insertions and deletions occur frequently between humans and nonhuman primates.	Genome Res	2003
11983059	Empirical characterization of the expression ratio noise structure in high-density oligonucleotide arrays.		2002
12005798	DNA hybridization to mismatched templates: a chip study.	Phys Rev E Stat Nonlin Soft Matter Phys	2002
11806820	Characterization of the expression ratio noise structure in high-density oligonucleotide arrays.		2002
11381031	Sequence diversity in genes of lipid metabolism.	Genome Research	2001
18428273	Single-nucleotide polymorphism genotyping using microarrays.	Current Protocols in Human Genetics	2001
11721056	Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21.	Science	2001
11591642	Evolutionarily conserved sequences on human chromosome 21.	Genome Res	2001
10742102	Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse.	Nat Genet	2000
10958631	Genome-wide detection of allelic imbalance using human SNPs and high-density DNA arrays.	Genome Res	2000
10391209	Characterization of single-nucleotide polymorphisms in coding regions of human genes.	Nat Genet	1999
8789947	Functional effects of the mouse weaver mutation on G protein-gated inwardly rectifying K+ channels.	Neuron	1996
7550338	A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation.	Nat Genet	1995
7849696	A transcript map of the Down syndrome critical region on chromosome 21.	Hum Mol Genet	1994
7849705	A high resolution physical map of 2.5 Mbp of the Down syndrome region on chromosome 21.	Hum Mol Genet	1994
1655809	An internal deletion in the cytoplasmic tail reverses the apical localization of human NGF receptor in transfected MDCK cells.	Journal of Cell Biology	1991
2156542	Specific neuronal expression of human NGF receptors in the basal forebrain and cerebellum of transgenic mice.	Neuron	1990
2161836	Deletion of cytoplasmic sequences of the nerve growth factor receptor leads to loss of high affinity ligand binding.	Journal of Biological Chemistry	1990
2850481	A constitutive promoter directs expression of the nerve growth factor receptor gene.	Molecular and Cellular Biology	1988
2855487	Molecular analysis of the nerve growth factor receptor.	Cold Spring Harbor Symposia on Quantitative Biology	1988
3546337	The large external domain is sufficient for the correct sorting of secreted or chimeric influenza virus hemagglutinins in polarized monkey kidney cells.	Journal of Cell Biology	1987