Delineation of a novel neurodevelopmental syndrome associated with <i>PAX5</i> haploinsufficiency-Reference-Cited by-同舟云学术

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

Published:2022-01-30 Issue:4 Volume:43 Page:461-470
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Gofin Yoel¹²^ORCID,Wang Tianyun³^ORCID,Gillentine Madelyn A.³⁴^ORCID,Scott Tiana M.⁵^ORCID,Berry Aliska M.¹,Azamian Mahshid S.¹²^ORCID,Genetti Casie⁶^ORCID,Agrawal Pankaj B.⁶⁷,Picker Jonathan⁶,Wojcik Monica H.⁷⁸⁹^ORCID,Delgado Mauricio R.¹⁰¹¹,Lynch Sally A.¹²^ORCID,Scherer Stephen W.¹³¹⁴^ORCID,Howe Jennifer L.¹³,Bacino Carlos A.¹²^ORCID,DiTroia Stephanie⁷⁹¹⁵^ORCID,VanNoy Grace E.⁹¹⁵^ORCID,O'Donnell‐Luria Anne⁷⁹¹⁵^ORCID,Lalani Seema R.¹²,Graf William D.¹⁶^ORCID,Rosenfeld Jill A.¹¹⁷^ORCID,Eichler Evan E.³¹⁸^ORCID,Earl Rachel K.¹⁹²⁰²¹,Scott Daryl A.¹²²²^ORCID

Affiliation:

1. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

2. Texas Children's Hospital Houston Texas USA

3. Department of Genome Sciences University of Washington School of Medicine Seattle Washington USA

4. Seattle Children's Hospital Seattle Washington USA

5. Department of Microbiology and Molecular Biology, College of Life Sciences Brigham Young University Provo Utah USA

6. Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA

7. Department of Pediatrics, Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA

8. Department of Pediatrics, Division of Newborn Medicine Boston Children's Hospital and Harvard Medical School Boston Massachusetts USA

9. Broad Center for Mendelian Genomics and Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge Massachusetts USA

10. Department of Neurology University of Texas Southwestern Dallas Texas USA

11. Scottish Rite for Children Dallas Texas USA

12. Clinical Genetics Dublin 1 Ireland

13. Genetics and Genome Biology and The Centre for Applied Genomics The Hospital for Sick Children Toronto Ontario Canada

14. Department of Molecular Genetics and the McLaughlin Centre University of Toronto Toronto Ontario Canada

15. Analytic and Translational Genetics Unit Massachusetts General Hospital Boston Massachusetts USA

16. Department of Pediatrics, Division of Neurology, Connecticut Children's University of Connecticut Farmington Connecticut USA

17. Baylor Genetics Laboratory Houston Texas USA

18. Howard Hughes Medical Institute University of Washington Seattle Washington USA

19. Center on Human Development and Disability University of Washington Seattle Washington USA

20. Seattle Children's Autism Center Seattle Washington USA

21. Department of Psychiatry and Behavioral Sciences University of Washington Seattle Washington USA

22. Department of Molecular Physiology and Biophysics Baylor College of Medicine Houston Texas USA

Funder

Simons Foundation Autism Research Initiative

Silicon Valley Community Foundation

National Institutes of Health

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24332

Reference34 articles.

1. GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes

2. Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis.

3. Regulation of the GABA cell phenotype in hippocampus of schizophrenics and bipolars

4. Functional equivalence of the transcription factors Pax2 and Pax5 in mouse development

5. Combined Annotation Dependent Depletion (CADD):https://cadd.gs.washington.edu/snv

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