Search details
1.
Nosology of genetic skeletal disorders: 2023 revision.
Am J Med Genet A
; 191(5): 1164-1209, 2023 May.
Article
in English
| MEDLINE | ID: mdl-36779427
2.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Am J Hum Genet
; 104(3): 422-438, 2019 03 07.
Article
in English
| MEDLINE | ID: mdl-30773277
3.
Dominant-negative SOX9 mutations in campomelic dysplasia.
Hum Mutat
; 40(12): 2344-2352, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31389106
4.
Nosology and classification of genetic skeletal disorders: 2019 revision.
Am J Med Genet A
; 179(12): 2393-2419, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31633310
5.
Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.
PLoS Genet
; 12(12): e1006502, 2016 Dec.
Article
in English
| MEDLINE | ID: mdl-27935951
6.
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.
PLoS Genet
; 12(9): e1006307, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27622494
7.
TGFß and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions.
PLoS Genet
; 12(3): e1005936, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-27019229
8.
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Hum Mutat
; 39(1): 152-166, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29068549
9.
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
Hum Mol Genet
; 25(18): 4012-4020, 2016 09 15.
Article
in English
| MEDLINE | ID: mdl-27466190
10.
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
Hum Mol Genet
; 25(18): 3998-4011, 2016 09 15.
Article
in English
| MEDLINE | ID: mdl-27466187
11.
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
Am J Med Genet A
; 176(12): 2887-2891, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30450842
12.
Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network.
BMC Genomics
; 18(1): 983, 2017 Dec 20.
Article
in English
| MEDLINE | ID: mdl-29262782
13.
HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.
Hum Mol Genet
; 24(7): 1918-28, 2015 Apr 01.
Article
in English
| MEDLINE | ID: mdl-25510505
14.
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
Am J Med Genet A
; 173(9): 2415-2421, 2017 Sep.
Article
in English
| MEDLINE | ID: mdl-28742282
15.
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.
Am J Hum Genet
; 93(5): 926-31, 2013 Nov 07.
Article
in English
| MEDLINE | ID: mdl-24183449
16.
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Am J Hum Genet
; 92(1): 137-43, 2013 Jan 10.
Article
in English
| MEDLINE | ID: mdl-23273567
17.
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
N Engl J Med
; 368(19): 1809-16, 2013 May 09.
Article
in English
| MEDLINE | ID: mdl-23656646
18.
Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.
Am J Med Genet A
; 170(12): 3298-3302, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27530454
19.
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
Am J Med Genet A
; 170(10): 2652-61, 2016 10.
Article
in English
| MEDLINE | ID: mdl-27240702
20.
Exome sequencing identifies PDE4D mutations in acrodysostosis.
Am J Hum Genet
; 90(4): 746-51, 2012 Apr 06.
Article
in English
| MEDLINE | ID: mdl-22464252