Detalhe da pesquisa
1.
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
J Med Genet
; 61(3): 250-261, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38050128
2.
Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes.
Am J Med Genet C Semin Med Genet
; 193(3): e32058, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534867
3.
Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes.
Am J Med Genet A
; 191(7): 1741-1757, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37045800
4.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Brain
; 145(8): 2687-2703, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675510
5.
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Am J Hum Genet
; 105(5): 933-946, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607427
6.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet
; 104(1): 164-178, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580808
7.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341651
8.
Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
Hum Mutat
; 42(7): 811-817, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33993607
9.
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Genet Med
; 23(2): 408-414, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33033404
10.
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genet Med
; 23(7): 1202-1210, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33674768
11.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(5): 878-888, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949314
12.
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Genet Med
; 22(2): 389-397, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388190
13.
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(4): 822, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32047287
14.
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Genet Med
; 22(3): 669, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31844176
15.
Primrose syndrome: Characterization of the phenotype in 42 patients.
Clin Genet
; 97(6): 890-901, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266967
16.
Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome.
Am J Med Genet A
; 182(3): 553-556, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31833208
17.
Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
Am J Med Genet A
; 182(4): 713-720, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31926053
18.
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Am J Med Genet A
; 182(7): 1637-1654, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319732
19.
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Am J Med Genet A
; 182(12): 2877-2886, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33043602
20.
PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature.
Am J Med Genet C Semin Med Genet
; 181(4): 591-610, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31609537