Search details
1.
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Am J Hum Genet
; 110(5): 809-825, 2023 05 04.
Article
in English
| MEDLINE | ID: mdl-37075751
2.
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.
Article
in English
| MEDLINE | ID: mdl-33308444
3.
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
4.
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
J Med Genet
; 59(2): 165-169, 2022 02.
Article
in English
| MEDLINE | ID: mdl-33436522
5.
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
Genomics
; 114(5): 110468, 2022 09.
Article
in English
| MEDLINE | ID: mdl-36041635
6.
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Hum Mutat
; 43(7): 900-918, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35344616
7.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am J Hum Genet
; 105(4): 836-843, 2019 10 03.
Article
in English
| MEDLINE | ID: mdl-31564437
8.
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry.
Am J Med Genet A
; 188(5): 1545-1549, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35019224
9.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet
; 102(1): 69-87, 2018 01 04.
Article
in English
| MEDLINE | ID: mdl-29290338
10.
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.
Am J Med Genet A
; 185(3): 774-780, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33382187
11.
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
Am J Med Genet C Semin Med Genet
; 184(4): 896-911, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33128510
12.
EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.
Hum Mol Genet
; 26(12): 2177-2191, 2017 06 15.
Article
in English
| MEDLINE | ID: mdl-28334780
13.
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
J Hum Genet
; 64(10): 967-978, 2019 Oct.
Article
in English
| MEDLINE | ID: mdl-31337854
14.
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
Genet Mol Biol
; 41(1): 85-91, 2018.
Article
in English
| MEDLINE | ID: mdl-29473937
15.
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Am J Hum Genet
; 94(1): 113-9, 2014 Jan 02.
Article
in English
| MEDLINE | ID: mdl-24387991
16.
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Am J Med Genet A
; 173(4): 938-945, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28328130
17.
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Am J Hum Genet
; 90(2): 308-13, 2012 Feb 10.
Article
in English
| MEDLINE | ID: mdl-22265015
18.
Further evidence of the importance of RIT1 in Noonan syndrome.
Am J Med Genet A
; 164A(11): 2952-7, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25124994
19.
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.
BMC Med Genet
; 14: 50, 2013 May 07.
Article
in English
| MEDLINE | ID: mdl-23648064
20.
Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation.
Am J Med Genet A
; 161A(3): 600-4, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23401352