Detalhe da pesquisa
1.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet
; 108(6): 1138-1150, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909992
2.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Am J Hum Genet
; 108(6): 1126-1137, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010604
3.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Am J Hum Genet
; 108(1): 115-133, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33308444
4.
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Am J Hum Genet
; 108(1): 8-15, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417889
5.
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.
Am J Med Genet A
; : e63601, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38562122
6.
Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.
Am J Med Genet A
; 194(3): e63422, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37876363
7.
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.
J Med Genet
; 60(2): 204-211, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35477554
8.
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Hum Genet
; 142(4): 543-552, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943452
9.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Am J Hum Genet
; 107(1): 34-45, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32497488
10.
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Am J Hum Genet
; 107(2): 293-310, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707087
11.
Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis.
J Hum Genet
; 68(4): 287-290, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36526684
12.
Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence.
Am J Med Genet A
; 191(3): 730-741, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36478354
13.
Perspectives on the future of dysmorphology.
Am J Med Genet A
; 191(3): 659-671, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36484420
14.
Nosology of genetic skeletal disorders: 2023 revision.
Am J Med Genet A
; 191(5): 1164-1209, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36779427
15.
Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7.
Prenat Diagn
; 43(6): 721-723, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37160697
16.
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.
J Med Genet
; 59(10): 957-964, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34916232
17.
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.
Hum Mutat
; 43(5): 625-642, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266227
18.
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Hum Mutat
; 43(12): 2116-2129, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36150098
19.
C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.
Hum Genet
; 141(8): 1423-1429, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35107634
20.
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.
Am J Hum Genet
; 104(3): 439-453, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773278