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1.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Article
in English
| MEDLINE | ID: mdl-37541188
2.
Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism.
Genome Res
; 32(11-12): 1967-1980, 2022.
Article
in English
| MEDLINE | ID: mdl-36351771
3.
Personal journeys to and in human genetics and dysmorphology.
Am J Med Genet A
; 194(6): e63514, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38329159
4.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Am J Hum Genet
; 107(6): 1129-1148, 2020 12 03.
Article
in English
| MEDLINE | ID: mdl-33186545
5.
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Am J Hum Genet
; 107(5): 802-814, 2020 11 05.
Article
in English
| MEDLINE | ID: mdl-33022222
6.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
; 107(1): 164-172, 2020 07 02.
Article
in English
| MEDLINE | ID: mdl-32553196
7.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Am J Hum Genet
; 104(5): 948-956, 2019 05 02.
Article
in English
| MEDLINE | ID: mdl-30982612
8.
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
9.
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Mov Disord
; 37(10): 2139-2146, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35876425
10.
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Am J Hum Genet
; 103(1): 144-153, 2018 07 05.
Article
in English
| MEDLINE | ID: mdl-29961568
11.
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Am J Hum Genet
; 103(4): 592-601, 2018 10 04.
Article
in English
| MEDLINE | ID: mdl-30245030
12.
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
Am J Hum Genet
; 103(6): 1045-1052, 2018 12 06.
Article
in English
| MEDLINE | ID: mdl-30526862
13.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 653-660, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33299146
14.
Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences.
Br J Psychiatry
; 218(6): 315-322, 2021 06.
Article
in English
| MEDLINE | ID: mdl-32157975
15.
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
Am J Hum Genet
; 100(2): 334-342, 2017 Feb 02.
Article
in English
| MEDLINE | ID: mdl-28132693
16.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Am J Hum Genet
; 100(1): 75-90, 2017 01 05.
Article
in English
| MEDLINE | ID: mdl-28041643
17.
Population screening requires robust evidence-genomics is no exception.
Lancet
; 403(10426): 583-586, 2024 Feb 10.
Article
in English
| MEDLINE | ID: mdl-38070525
18.
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.
Bioinformatics
; 35(22): 4754-4756, 2019 11 01.
Article
in English
| MEDLINE | ID: mdl-31134279
19.
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Genet Med
; 22(5): 945-953, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32066871
20.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Mov Disord
; 35(8): 1357-1368, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32472658