Detalhe da pesquisa
1.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Am J Hum Genet
; 2024 May 28.
Artigo
Inglês
| MEDLINE | ID: mdl-38815585
2.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36724785
3.
Exome/Genome Sequencing in Undiagnosed Syndromes.
Annu Rev Med
; 74: 489-502, 2023 01 27.
Artigo
Inglês
| MEDLINE | ID: mdl-36706750
4.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Am J Hum Genet
; 109(3): 518-532, 2022 03 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35108495
5.
The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinic.
Clin Genet
; 105(1): 62-71, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37853563
6.
The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders.
J Genet Couns
; 2024 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38562053
7.
Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.
J Genet Couns
; 32(5): 993-1008, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37005744
8.
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
Inglês
| MEDLINE | ID: mdl-30580808
9.
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genet Med
; 24(6): 1227-1237, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35300924
10.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33106617
11.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33173220
12.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 653-660, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33299146
13.
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Am J Med Genet A
; 185(8): 2384-2390, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34003604
14.
Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Ann Neurol
; 86(2): 181-192, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31177578
15.
A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.
Am J Med Genet A
; 182(8): 1947-1951, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32445275
16.
Rationally designed AAV2 and AAVrh8R capsids provide improved transduction in the retina and brain.
Gene Ther
; 25(3): 205-219, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29785047
17.
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Genet Med
; 20(4): 464-469, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28914269
18.
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 796, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33686260
19.
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
medRxiv
; 2024 Mar 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38562733
20.
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
Mol Genet Genomic Med
; 8(10): e1397, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32730690