Search details
1.
Role of CAMK2D in neurodevelopment and associated conditions.
Am J Hum Genet
; 111(2): 364-382, 2024 Feb 01.
Article
in English
| MEDLINE | ID: mdl-38272033
2.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Am J Hum Genet
; 111(3): 487-508, 2024 Mar 07.
Article
in English
| MEDLINE | ID: mdl-38325380
3.
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.
Am J Hum Genet
; 109(8): 1549-1558, 2022 08 04.
Article
in English
| MEDLINE | ID: mdl-35858628
4.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Article
in English
| MEDLINE | ID: mdl-35051358
5.
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Am J Hum Genet
; 108(5): 951-961, 2021 05 06.
Article
in English
| MEDLINE | ID: mdl-33894126
6.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Am J Hum Genet
; 108(5): 929-941, 2021 05 06.
Article
in English
| MEDLINE | ID: mdl-33811806
7.
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Genet Med
; 26(6): 101120, 2024 Mar 10.
Article
in English
| MEDLINE | ID: mdl-38469793
8.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Ann Neurol
; 2023 Aug 22.
Article
in English
| MEDLINE | ID: mdl-37606373
9.
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Am J Hum Genet
; 106(4): 570-583, 2020 04 02.
Article
in English
| MEDLINE | ID: mdl-32197074
10.
Separating the effects of early and later life adiposity on colorectal cancer risk: a Mendelian randomization study.
BMC Med
; 21(1): 5, 2023 01 04.
Article
in English
| MEDLINE | ID: mdl-36600297
11.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A
; 191(7): 1900-1910, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37183572
12.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Am J Hum Genet
; 104(2): 213-228, 2019 02 07.
Article
in English
| MEDLINE | ID: mdl-30639323
13.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34906456
14.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med
; 24(9): 1941-1951, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35678782
15.
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Mol Psychiatry
; 26(11): 6125-6148, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34188164
16.
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Am J Hum Genet
; 102(6): 1126-1142, 2018 06 07.
Article
in English
| MEDLINE | ID: mdl-29805043
17.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
; 102(5): 985-994, 2018 05 03.
Article
in English
| MEDLINE | ID: mdl-29656860
18.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
; 23(2): 363-373, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33144681
19.
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Am J Hum Genet
; 100(1): 117-127, 2017 Jan 05.
Article
in English
| MEDLINE | ID: mdl-28017373
20.
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Am J Hum Genet
; 100(4): 676-688, 2017 Apr 06.
Article
in English
| MEDLINE | ID: mdl-28343629