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Jackson, Adam J
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1

Structural variant calling and clinical interpretation in 6..:

Demidov, German ; Laurie, Steven ; Torella, Annalaura...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

LobsterPy: A package to automatically analyze LOBSTERruns:

Naik, Aakash Ashok ; Ueltzen, Katharina ; Ertural, Christina..
Journal of Open Source Software.  9 (2024)  94 - p. 6286 , 2024
Link: https://doi.org/10.21105..
 
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3

Preventing Machines From Lying: Why Interdisciplinary Colla..:

Wilson, Tim J ; Bergman, Jesper ; Jackson, Adam.
The Journal of Criminal Law.  88 (2024)  2 - p. 105-129 , 2024
Link: https://doi.org/10.1177/..
 
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4

Biallelic CRELD1 variants cause a multisystem syndrome, inc..:

Jeffries, Lauren ; Mis, Emily K. ; McWalter, Kirsty...
Genetics in Medicine.  26 (2024)  2 - p. 101023 , 2024
Link: https://doi.org/10.1016/..
 
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5

Variants in ZFX are associated with an X-linked neurodevelo..:

Shepherdson, James L. ; Hutchison, Katie ; Don, Dilan Wellalage...
The American Journal of Human Genetics.  111 (2024)  3 - p. 487-508 , 2024
Link: https://doi.org/10.1016/..
 
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6

Amygdala-hippocampus somatostatin interneuron beta-synchron..:

Jackson, Adam D. ; Cohen, Joshua L. ; Phensy, Aarron J....
Neuron.  112 (2024)  7 - p. 1182-1195.e5 , 2024
Link: https://doi.org/10.1016/..
 
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7

Gradient Boosted Machine Learning Model to Predict H2, CH4,..:

Bailey, Tom ; Jackson, Adam ; Berbece, Razvan-Antonio...
Journal of Chemical Information and Modeling.  63 (2023)  15 - p. 4545-4551 , 2023
Link: https://doi.org/10.1021/..
 
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8

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
Acta Neuropathologica.  146 (2023)  2 - p. 353-368 , 2023
Link: https://doi.org/10.1007/..
 
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9

Gain and loss of function variants in EZH1 disrupt neurogen..:

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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10

Rare EIF4A2 variants are associated with a neurodevelopment..:

Paul, Maimuna S. ; Duncan, Anna R. ; Genetti, Casie A....
The American Journal of Human Genetics.  110 (2023)  1 - p. 120-145 , 2023
Link: https://doi.org/10.1016/..
 
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11

Clinical, genetic, epidemiologic, evolutionary, and functio..:

Jackson, Adam ; Lin, Sheng-Jia ; Jones, Elizabeth A....
Human Genetics and Genomics Advances.  4 (2023)  2 - p. 100186 , 2023
Link: https://doi.org/10.1016/..
 
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12

The clinical and molecular spectrum of the KDM6B-related ne..:

Rots, Dmitrijs ; Jakub, Taryn E. ; Keung, Crystal...
The American Journal of Human Genetics.  110 (2023)  6 - p. 963-978 , 2023
Link: https://doi.org/10.1016/..
 
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13

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
Genetics in Medicine.  25 (2023)  4 - p. 100018 , 2023
Link: https://doi.org/10.1016/..
 
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14

Pituitary apoplexy during pregnancy with transsphenoidal re..:

Corn, Megan ; Nickell, Austin ; Lessard, Collette.
Case Reports in Women's Health.  39 (2023)  - p. e00543 , 2023
Link: https://doi.org/10.1016/..
 
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15

SAT292 Adrenal Insufficiency Associated With Biallelic Muta..:

Smith, Chris ; Jackson, Adam ; Al-Salihi, Ahmed...
Journal of the Endocrine Society.  7 (2023)  Supplement_1 - p. , 2023
Link: https://doi.org/10.1210/..
 
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