scholarly journals More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

2021 ◽  
Author(s):  
Tibbe Dhooge ◽  
Tim Van Damme ◽  
Delfien Syx ◽  
Laura Muiño Mosquera ◽  
Sheela Nampoothiri ◽  
...  
Keyword(s):  
Mutational Spectrum ◽  
Brittle Cornea Syndrome

scholarly journals More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

2020 ◽  
Author(s):  
Tibbe Dhooge ◽  
Tim Van Damme ◽  
Delfien Syx ◽  
Laura Muiño Mosquera ◽  
Sheela Nampoothiri ◽  
...  
Keyword(s):  
Mutational Spectrum ◽  
Brittle Cornea Syndrome

scholarly journals Brittle cornea syndrome: current perspectives

2019 ◽  
Vol Volume 13 ◽  
pp. 1511-1516
Author(s):  
Andrew Walkden ◽  
Emma Burkitt Wright ◽  
Leon Au
Keyword(s):  
Brittle Cornea Syndrome

Expanding the mutational spectrum for branchiooculofacial syndrome: a novel nonsense variant

2021 ◽  
Vol 132 ◽  
pp. S269
Author(s):  
Zoe Powis ◽  
Hannah Hayes ◽  
J. Austin Hamm ◽  
Abbey Putnam ◽  
Raveen Basran
Keyword(s):  
Mutational Spectrum

Expanding mutational spectrum of HRAS by a patient with Schimmelpenning–Feuerstein–Mims syndrome

2021 ◽  
Author(s):  
Qi Luo ◽  
Qin Zhang ◽  
Jinwen Shen ◽  
Wenbin Guan ◽  
Ming Li ◽  
...  
Keyword(s):  
Mutational Spectrum

scholarly journals Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders

2021 ◽  
Author(s):  
Yi Zhang ◽  
Tao Wang ◽  
Yan Wang ◽  
Kun Xia ◽  
Jinchen Li ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Neurodevelopmental Disorders ◽  
De Novo ◽  
Genetic Data ◽  
Chinese Patients ◽  
The Novel ◽  
Mutational Spectrum ◽  
Functional Variants ◽  
Public Data ◽  
Chromosomal Genes

AbstractNeurodevelopmental disorders (NDDs) are a group of diseases characterized by high heterogeneity and frequently co-occurring symptoms. The mutational spectrum in patients with NDDs is largely incomplete. Here, we sequenced 547 genes from 1102 patients with NDDs and validated 1271 potential functional variants, including 108 de novo variants (DNVs) in 78 autosomal genes and seven inherited hemizygous variants in six X chromosomal genes. Notably, 36 of these 78 genes are the first to be reported in Chinese patients with NDDs. By integrating our genetic data with public data, we prioritized 212 NDD candidate genes with FDR < 0.1, including 17 novel genes. The novel candidate genes interacted or were co-expressed with known candidate genes, forming a functional network involved in known pathways. We highlighted MSL2, which carried two de novo protein-truncating variants (p.L192Vfs*3 and p.S486Ifs*11) and was frequently connected with known candidate genes. This study provides the mutational spectrum of NDDs in China and prioritizes 212 NDD candidate genes for further functional validation and genetic counseling.

scholarly journals The co‐mutational spectrum determines the therapeutic response in murine FGFR2 fusion ‐ driven cholangiocarcinoma

Hepatology ◽  
2021 ◽  
Author(s):  
Gajanan Kendre ◽  
Silke Marhenke ◽  
Georgina Lorz ◽  
Diana Becker ◽  
Tanja Reineke‐Plaaß ◽  
...  
Keyword(s):  
Therapeutic Response ◽  
Mutational Spectrum

scholarly journals The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

2009 ◽  
Vol 30 (10) ◽  
pp. E921-E935 ◽  
Author(s):  
Erich Roessler ◽  
Kenia B. El-Jaick ◽  
Christèle Dubourg ◽  
Jorge I. Vélez ◽  
Benjamin D. Solomon ◽  
...  
Keyword(s):  
Loss Of Function ◽  
Structural Alterations ◽  
Mutational Spectrum

scholarly journals Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients

PLoS ONE ◽  
2013 ◽  
Vol 8 (1) ◽  
pp. e54800 ◽  
Author(s):  
Berta Luzón-Toro ◽  
Raquel M. Fernández ◽  
Ana Torroglosa ◽  
Juan Carlos de Agustín ◽  
Cristina Méndez-Vidal ◽  
...  
Keyword(s):  
Semaphorin 3A ◽  
Mutational Spectrum

scholarly journals Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency

2005 ◽  
Vol 28 (6) ◽  
pp. 1175-1178 ◽  
Author(s):  
C. Cavicchi ◽  
M. A. Donati ◽  
E. Pasquini ◽  
G. M. Poggi ◽  
C. Dionisi-Vici ◽  
...  
Keyword(s):  
Mutational Spectrum

The mutational spectrum of brachydactyly type C

2002 ◽  
Vol 112 (3) ◽  
pp. 291-296 ◽  
Author(s):  
David B. Everman ◽  
Cynthia F. Bartels ◽  
Yue Yang ◽  
Niranjan Yanamandra ◽  
Frances R. Goodman ◽  
...  
Keyword(s):  
Mutational Spectrum ◽  
Type C
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