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Esmaeeli, Sahar
42  results:
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1

Open science in precision medicine for neurodegenerative di..:

Leonard, Hampton L. ; Nalls, Mike A. ; Day-Williams, Aaron...
Nature Reviews Drug Discovery.  23 (2024)  4 - p. 233-234 , 2024
Link: https://doi.org/10.1038/..
 
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2

Functional characterization of a single nucleotide polymorp..:

Stolzenburg, Lindsay R. ; Esmaeeli, Sahar ; Kulkarni, Ameya S....
PLOS ONE.  18 (2023)  9 - p. e0291029 , 2023
Link: https://doi.org/10.1371/..
 
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3

Systematic single-variant and gene-based association testin..:

Karczewski, Konrad J. ; Solomonson, Matthew ; Chao, Katherine R....
Cell Genomics.  2 (2022)  9 - p. 100168 , 2022
Link: https://doi.org/10.1016/..
 
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4

De novo mutations in KIF1A cause progressive encephalopathy..:

Esmaeeli Nieh, Sahar ; Madou, Maura R. Z. ; Sirajuddin, Minhajuddin...
Annals of Clinical and Translational Neurology.  2 (2015)  6 - p. 623-635 , 2015
Link: https://doi.org/10.1002/..
 
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5

Copy number variant analysis from exome data in 349 patient..:

Epilepsy Phenome/Genome Project & Epi4K Consortium ; Allen, Andrew S. ; Berkovic, Samuel F....
Annals of Neurology.  78 (2015)  2 - p. 323-328 , 2015
Link: https://doi.org/10.1002/..
 
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6

Epileptic Encephalopathies: New Genes and New Pathways:

Esmaeeli Nieh, Sahar ; Sherr, Elliott H.
Neurotherapeutics.  11 (2014)  4 - p. 796-806 , 2014
Link: https://doi.org/10.1007/..
 
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7

Both Rare and De Novo Copy Number Variants Are Prevalent in..:

Sajan, Samin A. ; Fernandez, Liliana ; Nieh, Sahar Esmaeeli...
PLoS Genetics.  9 (2013)  10 - p. e1003823 , 2013
Link: https://doi.org/10.1371/..
 
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8

Fragile X syndrome screening of families with consanguineou..:

Pouya, Ali Reza ; Abedini, Seyedeh Sedigheh ; Mansoorian, Neda...
European Journal of Medical Genetics.  52 (2009)  4 - p. 170-173 , 2009
Link: https://doi.org/10.1016/..
 
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9

Homozygosity mapping in consanguineous families reveals ext..:

Najmabadi, Hossein ; Motazacker, Mohammad Mahdi ; Garshasbi, Masoud...
Human Genetics.  121 (2006)  1 - p. 43-48 , 2006
Link: https://doi.org/10.1007/..
 
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10

SNP array-based homozygosity mapping reveals MCPH1 deletion..:

Garshasbi, Masoud ; Motazacker, Mohammad Mahdi ; Kahrizi, Kimia...
Human Genetics.  118 (2005)  6 - p. 708-715 , 2005
Link: https://doi.org/10.1007/..
 
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11

A second update on mapping the human genetic architecture o..:

Kanai, Masahiro ; Andrews, Shea J ; Cordioli, Mattia...
info:eu-repo/semantics/altIdentifier/doi/10.1038/S41586-023-06355-3.  , 2023
Link: https://investigacion.un..
 
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12

A second update on mapping the human genetic architecture o..:

Kanai, Masahiro ; Andrews, Shea J ; Cordioli, Mattia...
info:eu-repo/semantics/altIdentifier/pmid/37674002.  , 2023
Link: https://hdl.handle.net/2..
 
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13

Mapping the human genetic architecture of COVID-19:

Niemi, Mari E. K ; Karjalainen, Juha ; Liao, Rachel G...
info:eu-repo/semantics/altIdentifier/pmid/34237774.  , 2021
Link: http://hdl.handle.net/11..
 
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14

Mapping the human genetic architecture of COVID-19:

Niemi, Mari E. K ; Karjalainen, Juha ; Liao, Rachel G...
info:eu-repo/semantics/altIdentifier/pmid/34237774.  , 2021
Link: http://hdl.handle.net/23..
 
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15

Mapping the human genetic architecture of COVID-19:

Niemi, Mari E. K ; Karjalainen, Juha ; Liao, Rachel G...
info:eu-repo/semantics/altIdentifier/pmid/34237774.  , 2021
Link: http://hdl.handle.net/24..
 
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