Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care-Reference-Cited by-同舟云学术

Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care

Published:2021-05 Issue:5 Volume:23 Page:872-880
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Sanchez Russo Rossana,Gambello Michael J.,Murphy Melissa M.,Aberizk Katrina,Black Emily,Burrell T. Lindsey,Carlock Grace,Cubells Joseph F.,Epstein Michael T.,Espana Roberto,Goines Katrina,Guest Ryan M.,Klaiman Cheryl,Koh Sookyong,Leslie Elizabeth J.,Li Longchuan,Novacek Derek M.,Saulnier Celine A.,Sefik Esra,Shultz Sarah,Walker Elaine,White Stormi Pulver,Averbach Hallie,Bassell Gary J.,Cambala Shanthi,Caspary Tamara,Cutler David,Dawson Paul A.,Epstein Michael P.,Johnston Henry R.,Mak Bryan,Malone Tamika,Mosley Trenell,Papetti Ava,Pollak Rebecca M.,Purcell Ryan,Sisodoya Nikisha,Sloan Steven,Warren Stephen T.,Weinshenker David,Wen Zhexing,Zwick Mike,Mulle Jennifer Gladys^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-020-01053-1.pdf

Reference29 articles.

1. 3q29 recurrent deletion. In GeneReviews;Mulle,1993

2. Unique Rare Chromosome Disorder Support Group. Novel features of 3q29 deletion syndrome: results from the 3q29 registry;Glassford;Am. J. Med. Genet,2016

Cited by 36 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. New kinase‐deficient PAK2 variants associated with Knobloch syndrome type 2;Clinical Genetics;2024-06-18

2. Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome;Molecular Psychiatry;2024-05-14

3. Psychosis spectrum symptoms among individuals with schizophrenia-associated copy number variants and evidence of cerebellar correlates of symptom severity;Psychiatry Research;2024-05

4. Phenotypes for general behavior, activity, and body temperature in 3q29 deletion model mice;Translational Psychiatry;2024-03-07

5. 3q29 duplications: A cohort of 46 patients and a literature review;American Journal of Medical Genetics Part A;2024-02-29