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.
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
J Med Genet
; 61(3): 289-293, 2024 Feb 21.
Article
in English
| MEDLINE | ID: mdl-37833060
3.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-36477332
4.
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
J Med Genet
; 60(5): 498-504, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36241386
5.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Article
in English
| MEDLINE | ID: mdl-32738225
6.
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Am J Hum Genet
; 106(6): 830-845, 2020 06 04.
Article
in English
| MEDLINE | ID: mdl-32442410
7.
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
Ann Neurol
; 92(6): 958-973, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36073542
8.
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Am J Med Genet A
; 191(7): 1935-1941, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37031378
9.
Prevalence and 1-year incidence of HIV-associated neurocognitive disorder (HAND) in adults aged ≥50 years attending standard HIV clinical care in Kilimanjaro, Tanzania.
Int Psychogeriatr
; 35(7): 339-350, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-33757616
10.
Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.
Int J Mol Sci
; 24(10)2023 May 17.
Article
in English
| MEDLINE | ID: mdl-37240244
11.
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.
Article
in English
| MEDLINE | ID: mdl-30827498
12.
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.
Hum Mutat
; 42(6): 685-693, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33783914
13.
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Am J Hum Genet
; 103(5): 786-793, 2018 11 01.
Article
in English
| MEDLINE | ID: mdl-30343942
14.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Am J Hum Genet
; 102(2): 309-320, 2018 02 01.
Article
in English
| MEDLINE | ID: mdl-29394990
15.
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
Clin Genet
; 99(2): 259-268, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33131045
16.
In Vivo Functional Effects of CYP2C9 M1L, a Novel and Common Variant in the Yup'ik Alaska Native Population.
Drug Metab Dispos
; 49(5): 345-352, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33632714
17.
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Am J Med Genet A
; 185(5): 1366-1378, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33522091
18.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain
; 143(1): 55-68, 2020 01 01.
Article
in English
| MEDLINE | ID: mdl-31834374
19.
Methods and sensors for functional genomic studies of cell-cycle transitions in single cells.
Physiol Genomics
; 52(10): 468-477, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-32866086
20.
Heterologous Expression and Functional Characterization of Novel CYP2C9 Variants Identified in the Alaska Native People.
J Pharmacol Exp Ther
; 374(2): 233-240, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32423989