Detalhe da pesquisa
1.
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Hum Mol Genet
; 31(21): 3729-3740, 2022 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35652444
2.
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Nat Rev Genet
; 19(10): 649-666, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29995837
3.
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.
Hum Mol Genet
; 30(1): 72-77, 2021 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33450762
4.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109418
5.
5p13 microduplication in a malformed fetus and his unaffected father.
Am J Med Genet A
; 191(2): 370-377, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322476
6.
Elements of morphology: Standard terminology for the trunk and limbs.
Am J Med Genet A
; 188(11): 3191-3228, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36062894
7.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Am J Hum Genet
; 102(2): 309-320, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29394990
8.
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Genet Med
; 23(1): 149-154, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32873933
9.
Genetic control of tumor development in malformation syndromes.
Am J Med Genet A
; 185(2): 324-335, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33141500
10.
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Hum Genet
; 139(5): 575-592, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32193685
11.
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.
Am J Hum Genet
; 101(5): 844-855, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100094
12.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Genet Med
; 22(11): 1838-1850, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32694869
13.
A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.
Clin Genet
; 97(6): 915-919, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112393
14.
Primrose syndrome: Characterization of the phenotype in 42 patients.
Clin Genet
; 97(6): 890-901, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266967
15.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Hum Mutat
; 40(12): 2270-2285, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206972
16.
Variants in nuclear factor I genes influence growth and development.
Am J Med Genet C Semin Med Genet
; 181(4): 611-626, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31730271
17.
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Am J Hum Genet
; 98(3): 579-587, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942290
18.
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Am J Hum Genet
; 99(2): 392-406, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27426733
19.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 108(6): 1161-1163, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087165
20.
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Clin Genet
; 95(4): 462-478, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30677142