Detalhe da pesquisa
1.
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(4): 587-600, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35196516
2.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
3.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
; 147(1): 311-324, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37713627
4.
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Am J Hum Genet
; 108(6): 1095-1114, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991472
5.
Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder.
Clin Genet
; 105(5): 488-498, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193334
6.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry
; 28(2): 668-697, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385166
7.
Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.
Am J Hum Genet
; 107(6): 1178-1185, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33242396
8.
Human 'knockouts' of CSF3 display severe congenital neutropenia.
Br J Haematol
; 203(3): 477-480, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37612131
9.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399134
10.
Mitochondrial "dysmorphology" in variant classification.
Hum Genet
; 141(1): 55-64, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34750646
11.
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
Am J Hum Genet
; 104(4): 731-737, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905400
12.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Am J Hum Genet
; 104(3): 542-552, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827498
13.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256876
14.
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Hum Mutat
; 42(6): 762-776, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847017
15.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Am J Hum Genet
; 102(1): 116-132, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290337
16.
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
Genet Med
; 23(11): 2213-2218, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34230638
17.
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.
Genet Med
; 23(4): 661-668, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420346
18.
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Clin Genet
; 100(4): 468-477, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34212383
19.
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
Am J Med Genet A
; 185(9): 2789-2800, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32949114
20.
PLXNA2 as a candidate gene in patients with intellectual disability.
Am J Med Genet A
; 185(12): 3859-3865, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34327814