Search details
1.
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Cell
; 172(5): 924-936.e11, 2018 02 22.
Article
in English
| MEDLINE | ID: mdl-29474920
2.
Disruptive CHD8 mutations define a subtype of autism early in development.
Cell
; 158(2): 263-276, 2014 Jul 17.
Article
in English
| MEDLINE | ID: mdl-24998929
3.
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
Am J Hum Genet
; 111(5): 841-862, 2024 May 02.
Article
in English
| MEDLINE | ID: mdl-38593811
4.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Am J Hum Genet
; 111(3): 529-543, 2024 Mar 07.
Article
in English
| MEDLINE | ID: mdl-38387458
5.
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
6.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Article
in English
| MEDLINE | ID: mdl-38181735
7.
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.
Cell
; 149(4): 912-22, 2012 May 11.
Article
in English
| MEDLINE | ID: mdl-22559943
8.
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Cell
; 149(3): 525-37, 2012 Apr 27.
Article
in English
| MEDLINE | ID: mdl-22521361
9.
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
Am J Hum Genet
; 110(12): 2103-2111, 2023 Dec 07.
Article
in English
| MEDLINE | ID: mdl-37924809
10.
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Am J Hum Genet
; 110(6): 989-997, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-37167966
11.
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
Am J Hum Genet
; 110(7): 1068-1085, 2023 07 06.
Article
in English
| MEDLINE | ID: mdl-37352860
12.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Article
in English
| MEDLINE | ID: mdl-36965478
13.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Article
in English
| MEDLINE | ID: mdl-36724785
14.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Article
in English
| MEDLINE | ID: mdl-37071997
15.
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
PLoS Genet
; 19(11): e1011005, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37934770
16.
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Am J Hum Genet
; 109(10): 1932-1943, 2022 10 06.
Article
in English
| MEDLINE | ID: mdl-36206744
17.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Article
in English
| MEDLINE | ID: mdl-36368327
18.
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Am J Hum Genet
; 109(8): 1436-1457, 2022 08 04.
Article
in English
| MEDLINE | ID: mdl-35907405
19.
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
20.
Loss of WNT4 in the gubernaculum causes unilateral cryptorchidism and fertility defects.
Development
; 149(23)2022 12 01.
Article
in English
| MEDLINE | ID: mdl-36448532