Search details
1.
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Am J Hum Genet
; 110(5): 809-825, 2023 05 04.
Article
in English
| MEDLINE | ID: mdl-37075751
2.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Article
in English
| MEDLINE | ID: mdl-33596411
3.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Genet Med
; 25(7): 100839, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37057675
4.
Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.
Hum Mutat
; 43(3): 389-402, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34961992
5.
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
Clin Chem
; 68(9): 1177-1183, 2022 09 01.
Article
in English
| MEDLINE | ID: mdl-35869940
6.
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.
Clin Genet
; 102(2): 136-141, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35533077
7.
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Am J Med Genet A
; 182(5): 962-973, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32031333
8.
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Am J Hum Genet
; 99(4): 962-973, 2016 Oct 06.
Article
in English
| MEDLINE | ID: mdl-27666370
9.
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?
Clin Chem
; 70(4): 577-583, 2024 04 03.
Article
in English
| MEDLINE | ID: mdl-38565214
10.
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Clin Genet
; 95(4): 462-478, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30677142
11.
Variation among Consent Forms for Clinical Whole Exome Sequencing.
J Genet Couns
; 27(1): 104-114, 2018 02.
Article
in English
| MEDLINE | ID: mdl-28689263
12.
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
Blood
; 125(4): 591-9, 2015 Jan 22.
Article
in English
| MEDLINE | ID: mdl-25359994
13.
Big Data Strikes Again: Future Utilization of the UK Biobank as a Resource for Clinical Laboratories.
Clin Chem
; 67(7): 932-934, 2021 07 06.
Article
in English
| MEDLINE | ID: mdl-33550402
14.
Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: Potential association of p.Leu95Pro with cleft palate.
Am J Med Genet A
; 185(4): 1341-1343, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33427398
15.
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse.
Hum Mutat
; 36(3): 301-6, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25512002
16.
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.
Genomics
; 102(3): 148-56, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23631824
17.
Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.
Genomics
; 102(5-6): 442-7, 2013.
Article
in English
| MEDLINE | ID: mdl-24001973
18.
Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis.
J Mol Diagn
; 26(5): 337-348, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38360210
19.
Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis.
J Allergy Clin Immunol
; 137(5): 1591-1595.e4, 2016 05.
Article
in English
| MEDLINE | ID: mdl-26632527
20.
Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.
Am J Med Genet B Neuropsychiatr Genet
; 159B(2): 210-6, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22213695