A novel leaky splice variant in centromere protein J ( <i>CENPJ</i> )‐associated Seckel syndrome-Reference-Cited by-同舟云学术

A novel leaky splice variant in centromere protein J ( CENPJ )‐associated Seckel syndrome

Published:2022-04-22 Issue:5 Volume:86 Page:245-256
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Yadav Navneesh¹,Kirola Laxmi¹²,Geetha Thenral S¹³,Mittal Kirti¹⁴,Kadandale Jayarama⁵,Yogev Yuval⁶,Birk Ohad S.⁶,Gupta Neerja⁷^ORCID,Balakrishnan Prahlad⁷⁸,Jana Manisha⁹,Gupta Meena¹⁰¹¹,Kabra Madhulika⁷,Thelma Bittianda Kuttapa¹

Affiliation:

1. Department of Genetics University of Delhi South Campus New Delhi India

2. Department of Molecular and Human Genetics Banaras Hindu University Uttar Pradesh India

3. Medgenome Labs BangaloreIndia

4. Lunenfeld‐Tanenbaum Research Institute Toronto Canada

5. Center for Human Genetics Bengaluru Karnataka India

6. The Morris Kahn Laboratory of Human Genetics Ben‐Gurion University of the Negev Beer Sheva Israel

7. Division of Genetics, Department of Paediatrics All India Institute of Medical Sciences New Delhi India

8. Genes2me Haryana India

9. Department of Radiodiagnosis All India Institute of Medical Sciences New Delhi India

10. Department of Neurology Institute of Human Behaviour and Allied Sciences New Delhi India

11. Department of Neurology Paras Hospitals Haryana India

Funder

Department of Biotechnology, Ministry of Science and Technology, India

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12469

Reference23 articles.

1. Congenital Microcephaly with a Simplified Gyral Pattern: Associated Findings and Their Significance

2. Novel CENPJ mutation causes Seckel syndrome

3. Molecular and cellular basis of autosomal recessive primary microcephaly;Barbelanne M.;BioMed Research International,2014

4. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations

5. The dark genome and pleiotropy: challenges for precision medicine