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1.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Article
in English
| MEDLINE | ID: mdl-32109418
2.
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Am J Hum Genet
; 105(4): 844-853, 2019 10 03.
Article
in English
| MEDLINE | ID: mdl-31585108
3.
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Am J Hum Genet
; 104(4): 685-700, 2019 04 04.
Article
in English
| MEDLINE | ID: mdl-30929737
4.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet
; 103(4): 553-567, 2018 10 04.
Article
in English
| MEDLINE | ID: mdl-30290151
5.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Article
in English
| MEDLINE | ID: mdl-29861108
6.
The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.
Am J Med Genet A
; 185(12): 3793-3803, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34414661
7.
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
PLoS Genet
; 14(11): e1007671, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30500825
8.
Defining the clinical phenotype of Saul-Wilson syndrome.
Genet Med
; 22(5): 857-866, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31949312
9.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
; 139(3): 415-442, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31820119
10.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 108(6): 1161-1163, 2021 Jun 03.
Article
in English
| MEDLINE | ID: mdl-34087165
11.
Neonatal abstinence syndrome is a potential cause of low TREC copy number.
Allergy Asthma Clin Immunol
; 17(1): 115, 2021 Nov 02.
Article
in English
| MEDLINE | ID: mdl-34727967
12.
A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.
Cold Spring Harb Mol Case Stud
; 6(3)2020 06.
Article
in English
| MEDLINE | ID: mdl-32532876
13.
The Sweat Metabolome of Screen-Positive Cystic Fibrosis Infants: Revealing Mechanisms beyond Impaired Chloride Transport.
ACS Cent Sci
; 3(8): 904-913, 2017 Aug 23.
Article
in English
| MEDLINE | ID: mdl-28852705
14.
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Eur J Hum Genet
; 22(1): 57-63, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-23632792
15.
Severe intellectual disability and autistic features associated with microduplication 2q23.1.
Eur J Hum Genet
; 20(4): 398-403, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22085900
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