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1.
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Am J Hum Genet
; 109(10): 1923-1931, 2022 10 06.
Article
in English
| MEDLINE | ID: mdl-36067766
2.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Am J Hum Genet
; 109(10): 1909-1922, 2022 10 06.
Article
in English
| MEDLINE | ID: mdl-36044892
3.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 601-617, 2022 04 07.
Article
in English
| MEDLINE | ID: mdl-35395208
4.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Am J Hum Genet
; 108(10): 2006-2016, 2021 10 07.
Article
in English
| MEDLINE | ID: mdl-34626583
5.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Am J Hum Genet
; 106(4): 484-495, 2020 04 02.
Article
in English
| MEDLINE | ID: mdl-32220290
6.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
J Med Genet
; 59(7): 697-705, 2022 07.
Article
in English
| MEDLINE | ID: mdl-34321323
7.
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Genet Med
; 24(11): 2240-2248, 2022 11.
Article
in English
| MEDLINE | ID: mdl-35997716
8.
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Ann Neurol
; 90(2): 274-284, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34185323
9.
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.
Mol Psychiatry
; 26(5): 1706-1718, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33597717
10.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34163037
11.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genet Med
; 23(6): 1028-1040, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33658631
12.
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Clin Genet
; 100(4): 468-477, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34212383
13.
Polymicrogyria is Associated With Pathogenic Variants in PTEN.
Ann Neurol
; 88(6): 1153-1164, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32959437
14.
Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy.
Am J Med Genet A
; 185(2): 555-560, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33170561
15.
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Am J Med Genet A
; 185(8): 2384-2390, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34003604
16.
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Am J Hum Genet
; 109(11): 2092, 2022 Nov 03.
Article
in English
| MEDLINE | ID: mdl-36332614
17.
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Genet Med
; 22(6): 1061-1068, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32099069
18.
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.
Ann Neurol
; 85(6): 921-926, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30937933
19.
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
Am J Med Genet A
; 182(1): 189-194, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31633297
20.
Recessive mutations in VPS13D cause childhood onset movement disorders.
Ann Neurol
; 83(6): 1089-1095, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29518281