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Smedley, Damian
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1

Improving prenatal diagnosis through standards and aggregat..:

Duyzend, Michael H. ; Cacheiro, Pilar ; Jacobsen, Julius O. B....
Prenatal Diagnosis.  44 (2024)  4 - p. 454-464 , 2024
Link: https://doi.org/10.1002/..
 
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2

Computational identification of disease models through cros..:

Cacheiro, Pilar ; Pava, Diego ; Parkinson, Helen...
Disease Models & Mechanisms.  17 (2024)  6 - p. , 2024
Link: https://doi.org/10.1242/..
 
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De novo and inherited monoallelic variants in TUBA4A cause ..:

Benkirane, Mehdi ; Bonhomme, Marion ; Morsy, Heba...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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4

Lethal phenotypes in Mendelian disorders:

Cacheiro, Pilar ; Lawson, Samantha ; Van den Veyver, Ignatia B....
Genetics in Medicine.  26 (2024)  7 - p. 101141 , 2024
Link: https://doi.org/10.1016/..
 
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5

Essential genes: a cross-species perspective:

Cacheiro, Pilar ; Smedley, Damian
Mammalian Genome.  34 (2023)  3 - p. 357-363 , 2023
Link: https://doi.org/10.1007/..
 
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6

CYP2C19 loss‐of‐function alleles are not associated with hi..:

Magavern, Emma F. ; van Heel, David A. ; Smedley, Damian..
British Journal of Clinical Pharmacology.  89 (2023)  11 - p. 3432-3438 , 2023
Link: https://doi.org/10.1111/..
 
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7

Knockout mice are an important tool for human monogenic hea..:

Cacheiro, Pilar ; Spielmann, Nadine ; Mashhadi, Hamed Haseli...
Disease Models & Mechanisms.  16 (2023)  5 - p. , 2023
Link: https://doi.org/10.1242/..
 
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8

CYP2C19 Genotype Prevalence and Association With Recurrent ..:

Magavern, Emma F. ; Jacobs, Benjamin ; Warren, Helen...
JACC: Advances.  2 (2023)  7 - p. 100573 , 2023
Link: https://doi.org/10.1016/..
 
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9

A non-coding insertional mutation of Grhl2 causes gene over..:

Crane-Smith, Zoe ; De Castro, Sandra C P ; Nikolopoulou, Evanthia...
Human Molecular Genetics.  32 (2023)  17 - p. 2681-2692 , 2023
Link: https://doi.org/10.1093/..
 
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10

Missense variants in RPH3A cause defects in excitatory syna..:

Pavinato, Lisa ; Stanic, Jennifer ; Barzasi, Marta...
Genetics in Medicine.  25 (2023)  11 - p. 100922 , 2023
Link: https://doi.org/10.1016/..
 
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11

SLCO1B1*5 is protective against non-senile cataracts in coh..:

Magavern, Emma F. ; van Heel, David A. ; Smedley, Damian..
The Pharmacogenomics Journal.  23 (2023)  5 - p. 134-139 , 2023
Link: https://doi.org/10.1038/..
 
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12

The Ontology of Biological Attributes (OBA)—computational t..:

Stefancsik, Ray ; Balhoff, James P. ; Balk, Meghan A....
Mammalian Genome.  34 (2023)  3 - p. 364-378 , 2023
Link: https://doi.org/10.1007/..
 
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13

Factor V Leiden, estrogen, and multimorbidity association w..:

Magavern, Emma F. ; Smedley, Damian ; Caulfield, Mark J.
iScience.  26 (2023)  10 - p. 107795 , 2023
Link: https://doi.org/10.1016/..
 
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14

Stretch-activated ion channel TMEM63B associates with devel..:

Vetro, Annalisa ; Pelorosso, Cristiana ; Balestrini, Simona...
The American Journal of Human Genetics.  110 (2023)  8 - p. 1356-1376 , 2023
Link: https://doi.org/10.1016/..
 
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15

Prenatal phenotyping: A community effort to enhance the Hum..:

Dhombres, Ferdinand ; Morgan, Patricia ; Chaudhari, Bimal P....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  190 (2022)  2 - p. 231-242 , 2022
Link: https://doi.org/10.1002/..
 
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