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Ferla, Matteo
119  results:
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1

De novo variants in DENND5B cause a neurodevelopmental diso..:

Scala, Marcello ; Tomati, Valeria ; Ferla, Matteo...
The American Journal of Human Genetics.  111 (2024)  3 - p. 529-543 , 2024
Link: https://doi.org/10.1016/..
 
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2

Structural and non-coding variants increase the diagnostic ..:

Pagnamenta, Alistair T. ; Camps, Carme ; Giacopuzzi, Edoardo...
Genome Medicine.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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3

The prevalence and phenotypic range associated with biallel..:

Pagnamenta, Alistair T. ; Belles, Rebecca S. ; Salbert, Bonnie Anne...
Clinical Genetics.  104 (2023)  1 - p. 121-126 , 2023
Link: https://doi.org/10.1111/..
 
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4

Open science discovery of potent noncovalent SARS-CoV-2 mai..:

Boby, Melissa L. ; Fearon, Daren ; Ferla, Matteo...
Science.  382 (2023)  6671 - p. , 2023
Link: https://doi.org/10.1126/..
 
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5

Biallelic MED27 variants lead to variable ponto-cerebello-l..:

Maroofian, Reza ; Kaiyrzhanov, Rauan ; Cali, Elisa...
Brain.  146 (2023)  12 - p. 5031-5043 , 2023
Link: https://doi.org/10.1093/..
 
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6

A fluorescence lifetime-based fibre-optic glucose sensor us..:

Saxl, Tania ; Khan, Faaizah ; Ferla, Matteo..
The Analyst.  136 (2011)  5 - p. 968-972 , 2011
Link: https://doi.org/10.1039/..
 
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7

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
Genetics in Medicine.  25 (2023)  1 - p. 135-142 , 2023
Link: https://doi.org/10.1016/..
 
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8

Iterative computational design and crystallographic screeni..:

Gahbauer, Stefan ; Correy, Galen J. ; Schuller, Marion...
Proceedings of the National Academy of Sciences.  120 (2023)  2 - p. , 2023
Link: https://doi.org/10.1073/..
 
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9

Venus: Elucidating the Impact of Amino Acid Variants on Pro..:

Ferla, Matteo P. ; Pagnamenta, Alistair T. ; Koukouflis, Leonidas..
Journal of Molecular Biology.  434 (2022)  11 - p. 167567 , 2022
Link: https://doi.org/10.1016/..
 
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10

DogCatcher allows loop-friendly protein-protein ligation:

Keeble, Anthony H. ; Yadav, Vikash K. ; Ferla, Matteo P....
Cell Chemical Biology.  29 (2022)  2 - p. 339-350.e10 , 2022
Link: https://doi.org/10.1016/..
 
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11

An ancestral 10-bp repeat expansion in VWA1 causes recessiv..:

Pagnamenta, Alistair T ; Kaiyrzhanov, Rauan ; Zou, Yaqun...
Brain.  144 (2021)  2 - p. 584-600 , 2021
Link: https://doi.org/10.1093/..
 
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12

Biallelic PI4KA variants cause neurological, intestinal and..:

Salter, Claire G ; Cai, Yiying ; Lo, Bernice...
Brain.  144 (2021)  12 - p. 3597-3610 , 2021
Link: https://doi.org/10.1093/..
 
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13

Non-coding region variants upstream of MEF2C cause severe d..:

Wright, Caroline F. ; Quaife, Nicholas M. ; Ramos-Hernández, Laura...
The American Journal of Human Genetics.  108 (2021)  6 - p. 1083-1094 , 2021
Link: https://doi.org/10.1016/..
 
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14

Expanding the phenotypic spectrum of BCS1L‐related mitochon..:

Hikmat, Omar ; Isohanni, Pirjo ; Keshavan, Nandaki...
Annals of Clinical and Translational Neurology.  8 (2021)  11 - p. 2155-2165 , 2021
Link: https://doi.org/10.1002/..
 
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15

Variable skeletal phenotypes associated with biallelic vari..:

Pagnamenta, Alistair T ; Diaz-Gonzalez, Francisca ; Banos-Pinero, Benito...
Journal of Medical Genetics.  59 (2021)  10 - p. 947-950 , 2021
Link: https://doi.org/10.1136/..
 
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