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Kousi, Maria
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1

List of contributors:

, In: Genomics of Rare Diseases,
Breman, Amy ; Brigatti, Karlla Welch ; Chahrour, Maria... - p. xiii-xiv , 2021
Link: https://doi.org/10.1016/..
 
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2

Transcriptomics in rare diseases:

, In: Genomics of Rare Diseases,
Kousi, Maria - p. 215-228 , 2021
Link: https://doi.org/10.1016/..
 
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3

Evidence for secondary-variant genetic burden and non-rando..:

Kousi, Maria ; Söylemez, Onuralp ; Ozanturk, Aysegül...
Nature Genetics.  52 (2020)  11 - p. 1145-1150 , 2020
Link: https://doi.org/10.1038/..
 
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4

PCM1 is necessary for focal ciliary integrity and is a cand..:

Monroe, Tanner O. ; Garrett, Melanie E. ; Kousi, Maria...
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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5

Performance of computational methods for the evaluation of ..:

Monzon, Alexander Miguel ; Carraro, Marco ; Chiricosta, Luigi...
Human Mutation.  40 (2019)  9 - p. 1474-1485 , 2019
Link: https://doi.org/10.1002/..
 
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6

Mutations in ATP13A2 (PARK9) are associated with an amyotro..:

Spataro, Rossella ; Kousi, Maria ; Farhan, Sali M. K....
Human Genomics.  13 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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7

Transcriptome-wide association study of schizophrenia and c..:

Gusev, Alexander ; Mancuso, Nicholas ; Won, Hyejung...
Nature Genetics.  50 (2018)  4 - p. 538-548 , 2018
Link: https://doi.org/10.1038/..
 
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8

RAC1 Missense Mutations in Developmental Disorders with Div..:

Reijnders, Margot R.F. ; Ansor, Nurhuda M. ; Kousi, Maria...
The American Journal of Human Genetics.  101 (2017)  3 - p. 466-477 , 2017
Link: https://doi.org/10.1016/..
 
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9

ZNHIT3 is defective in PEHO syndrome, a severe encephalopat..:

Anttonen, Anna-Kaisa ; Laari, Anni ; Kousi, Maria...
Brain.  140 (2017)  5 - p. 1267-1279 , 2017
Link: https://doi.org/10.1093/..
 
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10

The Genetic Basis of Hydrocephalus:

Kousi, Maria ; Katsanis, Nicholas
Annual Review of Neuroscience.  39 (2016)  1 - p. 409-435 , 2016
Link: https://doi.org/10.1146/..
 
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11

Missense mutations inTENM4, a regulator of axon guidance an..:

Hor, Hyun ; Francescatto, Ludmila ; Bartesaghi, Luca...
Human Molecular Genetics.  24 (2015)  20 - p. 5677-5686 , 2015
Link: https://doi.org/10.1093/..
 
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12

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause..:

Niceta, Marcello ; Stellacci, Emilia ; Gripp, Karen W....
The American Journal of Human Genetics.  96 (2015)  5 - p. 816-825 , 2015
Link: https://doi.org/10.1016/..
 
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13

TAF1 Variants Are Associated with Dysmorphic Features, Inte..:

O'Rawe, Jason A. ; Wu, Yiyang ; Dörfel, Max J....
The American Journal of Human Genetics.  97 (2015)  6 - p. 922-932 , 2015
Link: https://doi.org/10.1016/..
 
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14

BRF1 mutations alter RNA polymerase III–dependent transcrip..:

Borck, Guntram ; Hög, Friederike ; Dentici, Maria Lisa...
Genome Research.  25 (2015)  2 - p. 155-166 , 2015
Link: https://doi.org/10.1101/..
 
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Exome Sequence Analysis Suggests that Genetic Burden Contri..:

Gonzaga-Jauregui, Claudia ; Harel, Tamar ; Gambin, Tomasz...
Cell Reports.  12 (2015)  7 - p. 1169-1183 , 2015
Link: https://doi.org/10.1016/..
 
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