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Gene-culture coevolution shapes olfactory receptor gene diversity in Orang Asli populations

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1. scibot 17 Apr 2026
  
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  DOI: 10.1016/j.celrep.2026.117181
  
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sciencedirect.com/science/article/pii/S2211124726002597
Apr 2025
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition

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1. scibot 19 Apr 2025
  
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  DOI: 10.1158/1078-0432.CCR-24-2785
  
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pmc.ncbi.nlm.nih.gov/articles/PMC11995001/
Feb 2025
52.53.155.43 52.53.155.43

PDF-html.html

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1. scibot 28 Feb 2025
  
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  DOI: 10.1158/1078-0432.ccr-24-2785
  
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52.53.155.43/3f15b87d98f941e9a84b5e41f881bf902254c0f2/PDF-html.html
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Enhancing inbreeding estimation and global conservation insights through chromosome-level assemblies of the Chinese and Malayan pangolin

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1. scibot 15 Feb 2025
  
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  DOI: 10.1093/gigascience/giaf003
  
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pmc.ncbi.nlm.nih.gov/articles/PMC11825179/
Dec 2023
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Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review

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1. scibot 16 Dec 2023
  
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  DOI: 10.1016/j.seizure.2023.12.008
  
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sciencedirect.com/science/article/pii/S1059131123003230
Oct 2023
dx.doi.org dx.doi.org

Computational prediction of human deep intronic variation

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1. scibot 27 Oct 2023
  
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  DOI: 10.1093/gigascience/giad085
  
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dx.doi.org/10.1093/gigascience/giad085
Jul 2023
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Loss-of-function variants in KCTD19 cause non-obstructive azoospermia in humans

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1. scibot 15 Jul 2023
  
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  DOI: 10.1016/j.isci.2023.107193
  
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sciencedirect.com/science/article/pii/S2589004223012701
Feb 2023
onlinelibrary.wiley.com onlinelibrary.wiley.com

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia

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1. scibot 08 Feb 2023
  
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  DOI: 10.1002/mgg3.2146
  
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onlinelibrary.wiley.com/doi/10.1002/mgg3.2146
Mar 2022
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Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46,XY Differences of Sex Development

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1. scibot 08 Mar 2022
  
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  DOI: 10.1210/clinem/dgac064
  
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academic.oup.com/jcem/advance-article/doi/10.1210/clinem/dgac064/6521524
Aug 2021
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RepeatFiller newly identifies megabases of aligning repetitive sequences and improves annotations of conserved non-exonic elements

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1. scibot 14 Aug 2021
  
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  DOI: 10.1093/gigascience/giz132
  
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academic.oup.com/gigascience/article/8/11/giz132/5631861
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Untitled document

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1. scibot 10 Aug 2021
  
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  DOI: 10.1093/gigascience/giy141
  
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academic.oup.com/gigascience/article/7/12/giy141/5202467
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Untitled document

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1. scibot 06 Aug 2021
  
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  DOI: 10.1093/gigascience/giy141
  
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ncbi.nlm.nih.gov/pmc/articles/PMC6304105/
Jul 2021
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Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis

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1. scibot 07 Jul 2021
  
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  DOI: 10.1016/j.celrep.2021.109315
  
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sciencedirect.com/science/article/pii/S2211124721006914
Sep 2020
onlinelibrary.wiley.com onlinelibrary.wiley.com

Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy

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1. scibot 03 Sep 2020
  
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  DOI: 10.1002/brb3.1597
  
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onlinelibrary.wiley.com/doi/10.1002/brb3.1597
Jan 2020
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A genome alignment of 120 mammals highlights ultraconserved element variability and placenta-associated enhancers

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1. scibot 13 Jan 2020
  
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  DOI: 10.1093/gigascience/giz159
  
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academic.oup.com/gigascience/article/9/1/giz159/5695847
onlinelibrary.wiley.com onlinelibrary.wiley.com

Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy

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1. scibot 13 Jan 2020
  
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  RRID:SCR_000563
  
  DOI: 10.1002/brb3.1455
  
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onlinelibrary.wiley.com/doi/10.1002/brb3.1455