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1.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet
; 104(3): 530-541, 2019 03 07.
Article
in English
| MEDLINE | ID: mdl-30827496
2.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet
; 104(1): 164-178, 2019 01 03.
Article
in English
| MEDLINE | ID: mdl-30580808
3.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 102(5): 995-1007, 2018 05 03.
Article
in English
| MEDLINE | ID: mdl-29656858
4.
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.
Am J Med Genet A
; 185(9): 2766-2775, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34160123
5.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Am J Hum Genet
; 100(2): 343-351, 2017 Feb 02.
Article
in English
| MEDLINE | ID: mdl-28132692
6.
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Genet Med
; 22(8): 1338-1347, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32424177
7.
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.
Prenat Diagn
; 40(10): 1246-1257, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32474937
8.
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Am J Med Genet A
; 179(4): 542-551, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30719864
9.
AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.
Genet Med
; 20(12): 1600-1608, 2018 12.
Article
in English
| MEDLINE | ID: mdl-29595809
10.
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.
Am J Med Genet A
; 176(4): 969-972, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29446546
11.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 103(4): 631, 2018 10 04.
Article
in English
| MEDLINE | ID: mdl-30290155
12.
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
J Mol Diagn
; 24(3): 274-286, 2022 03.
Article
in English
| MEDLINE | ID: mdl-35065284
13.
A Centralized Approach for Practicing Genomic Medicine.
Pediatrics
; 145(3)2020 03.
Article
in English
| MEDLINE | ID: mdl-32102930
14.
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
J Mol Diagn
; 21(1): 38-48, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30577886
15.
PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism.
Epilepsy Res
; 145: 89-92, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29933145
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