Search details
1.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Am J Hum Genet
; 110(1): 105-119, 2023 01 05.
Article
in English
| MEDLINE | ID: mdl-36493768
2.
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Hum Mutat
; 43(1): 16-29, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34633740
3.
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Am J Hum Genet
; 105(1): 151-165, 2019 07 03.
Article
in English
| MEDLINE | ID: mdl-31230722
4.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Am J Hum Genet
; 110(6): 1018, 2023 Jun 01.
Article
in English
| MEDLINE | ID: mdl-37267898
5.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Article
in English
| MEDLINE | ID: mdl-31530938
6.
Cornelia de Lange syndrome in diverse populations.
Am J Med Genet A
; 179(2): 150-158, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30614194
7.
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
Am J Hum Genet
; 95(6): 729-35, 2014 Dec 04.
Article
in English
| MEDLINE | ID: mdl-25434005
8.
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
Ann Neurol
; 79(1): 132-7, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26285051
9.
Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing.
Eur J Hum Genet
; 31(1): 122-124, 2023 01.
Article
in English
| MEDLINE | ID: mdl-35945246
10.
Rasmussen encephalitis tissue transfer program.
Epilepsia
; 57(6): 1005-7, 2016 06.
Article
in English
| MEDLINE | ID: mdl-27286752
11.
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain.
Brain Commun
; 3(1): fcaa235, 2021.
Article
in English
| MEDLINE | ID: mdl-33738444
12.
Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy.
Neurology
; 95(18): e2542-e2551, 2020 11 03.
Article
in English
| MEDLINE | ID: mdl-32847954
13.
Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update.
Parkinsonism Relat Disord
; 64: 308-311, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30928208
14.
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
Ann Clin Transl Neurol
; 6(7): 1338-1344, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31353856
15.
Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.
Neurol Genet
; 4(3): e236, 2018 Jun.
Article
in English
| MEDLINE | ID: mdl-29725622
16.
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Nat Genet
; 49(4): 511-514, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28250454
17.
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.
Neurol Genet
; 2(6): e114, 2016 Dec.
Article
in English
| MEDLINE | ID: mdl-27790638
18.
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.
Eur J Hum Genet
; 13(1): 26-33, 2005 Jan.
Article
in English
| MEDLINE | ID: mdl-15292920
19.
Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.
Neurology
; 84(20): 2029-32, 2015 May 19.
Article
in English
| MEDLINE | ID: mdl-25878179
20.
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.
Ann Clin Transl Neurol
; 2(5): 575-80, 2015 May.
Article
in English
| MEDLINE | ID: mdl-26000329