Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3

Muhammad Umair; Bader Alhaddad; Afzal Rafique; Abid Jan; Tobias B Haack; Elisabeth Graf; Asmat Ullah; Farooq Ahmad; Tim M Strom; Thomas Meitinger; Wasim Ahmad

doi:10.1038/pr.2017.149

Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3

Pediatric Research ◽

10.1038/pr.2017.149 ◽

2017 ◽

Vol 82 (5) ◽

pp. 753-758 ◽

Cited By ~ 13

Author(s):

Muhammad Umair ◽

Bader Alhaddad ◽

Afzal Rafique ◽

Abid Jan ◽

Tobias B Haack ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Exome Sequencing ◽

Splice Site ◽

Osteogenesis Imperfecta Type ◽

Splice Site Variant ◽

Type 3

Download Full-text

Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I

Injury ◽

10.1016/j.injury.2019.10.033 ◽

2019 ◽

Vol 50 (12) ◽

pp. 2215-2219 ◽

Cited By ~ 1

Author(s):

Yuxiang Lin ◽

Xiaoli Li ◽

Xinghua Huang ◽

Dezhu Zheng ◽

Yichu Liu ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Splice Site ◽

Chinese Patient ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Col1a1 Gene ◽

Splice Site Variant ◽

Osteogenesis Imperfecta Type I

Download Full-text

Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI

JBMR Plus ◽

10.1002/jbm4.10044 ◽

2018 ◽

Vol 2 (4) ◽

pp. 235-239 ◽

Cited By ~ 2

Author(s):

Zixue Jin ◽

Lindsay C Burrage ◽

Ming-Ming Jiang ◽

Yi-Chien Lee ◽

Terry Bertin ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Splice Site ◽

Osteogenesis Imperfecta Type ◽

Cryptic Splice Site ◽

Whole Exome

Download Full-text

Whole exome sequencing analysis identifies a missense variant in COL1A2 gene which causes osteogenesis imperfecta Type IV in a family from Saudi Arabia

Journal of Musculoskeletal Surgery and Research ◽

10.4103/jmsr.jmsr_26_17 ◽

2017 ◽

Vol 1 (2) ◽

pp. 33 ◽

Cited By ~ 1

Author(s):

Musharraf Jelani ◽

YaserM Alkhiary ◽

Anum Ramzan ◽

Muhammad Ilyas ◽

Ubaidullah Khan ◽

...

Keyword(s):

Saudi Arabia ◽

Osteogenesis Imperfecta ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Missense Variant ◽

Osteogenesis Imperfecta Type ◽

Sequencing Analysis ◽

Type Iv ◽

Whole Exome ◽

Col1a2 Gene

Download Full-text

Osteogenesis imperfecta type VIII: Association with increased nuchal translucency and prenatal diagnosis by targeted exome sequencing

European Journal of Obstetrics & Gynecology and Reproductive Biology ◽

10.1016/j.ejogrb.2018.10.022 ◽

2019 ◽

Vol 235 ◽

pp. 128-129

Author(s):

Li Zhen ◽

Fan Jiang ◽

Dong-Zhi Li

Keyword(s):

Prenatal Diagnosis ◽

Osteogenesis Imperfecta ◽

Exome Sequencing ◽

Nuchal Translucency ◽

Osteogenesis Imperfecta Type ◽

Type Viii ◽

Targeted Exome Sequencing ◽

Increased Nuchal Translucency

Download Full-text

Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII

Clinica Chimica Acta ◽

10.1016/j.cca.2016.11.019 ◽

2017 ◽

Vol 464 ◽

pp. 170-175 ◽

Cited By ~ 2

Author(s):

Yanru Huang ◽

Libin Mei ◽

Weigang Lv ◽

Haoxian Li ◽

Rui Zhang ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Exome Sequencing ◽

Compound Heterozygous ◽

Osteogenesis Imperfecta Type ◽

Type Viii ◽

Targeted Exome Sequencing ◽

Compound Heterozygous Mutations

Download Full-text

Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia

Clinical Genetics ◽

10.1111/cge.12822 ◽

2016 ◽

Vol 91 (3) ◽

pp. 494-498 ◽

Cited By ~ 4

Author(s):

A. Ullah ◽

U.‐E Kalsoom ◽

M. Umair ◽

P. John ◽

M. Ansar ◽

...

Keyword(s):

Exome Sequencing ◽

Splice Site ◽

Frontonasal Dysplasia ◽

Splice Site Variant

Download Full-text

Elastic intramedullary nailing of the femur fracture in patients affected by osteogenesis imperfecta type 3: Indications, limits and pitfalls

Injury ◽

10.1016/j.injury.2019.01.045 ◽

2019 ◽

Vol 50 ◽

pp. S52-S56 ◽

Cited By ~ 1

Author(s):

Pietro Persiani ◽

Lorena Martini ◽

Filippo Maria Ranaldi ◽

Anna Zambrano ◽

Mauro Celli ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Intramedullary Nailing ◽

Femur Fracture ◽

Osteogenesis Imperfecta Type ◽

Elastic Intramedullary Nailing ◽

Type 3

Download Full-text

Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing

The Application of Clinical Genetics ◽

10.2147/tacg.s126277 ◽

2017 ◽

Vol Volume 10 ◽

pp. 75-83 ◽

Cited By ~ 1

Author(s):

Harvy Velasco Parra ◽

Jessica Liliana Morales

Keyword(s):

Osteogenesis Imperfecta ◽

Exome Sequencing ◽

Pediatric Patient ◽

Novel Mutation ◽

Osteogenesis Imperfecta Type ◽

Clinical Exome Sequencing

Download Full-text

Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10

South African Medical Journal ◽

10.7196/samj.2017.v107i5.9461 ◽

2017 ◽

Vol 107 (5) ◽

pp. 457 ◽

Cited By ~ 4

Author(s):

Alvera Vorster ◽

Peter Beighton ◽

Manogari Chetty ◽

Yasmeen Ganie ◽

Bertram Henderson ◽

...

Keyword(s):

South Africa ◽

Osteogenesis Imperfecta ◽

Osteogenesis Imperfecta Type ◽

Type 3

Download Full-text

Osteogenesis imperfecta type 3

10.32388/x5tzzo ◽

2020 ◽

Author(s):

Keyword(s):

Osteogenesis Imperfecta ◽

Osteogenesis Imperfecta Type ◽

Type 3

Download Full-text