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1.
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
Am J Hum Genet
; 111(5): 841-862, 2024 May 02.
Article
in English
| MEDLINE | ID: mdl-38593811
2.
Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.
Hum Mol Genet
; 31(9): 1430-1442, 2022 05 04.
Article
in English
| MEDLINE | ID: mdl-34788807
3.
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Am J Med Genet A
; 194(1): 17-30, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37743782
4.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Am J Hum Genet
; 107(2): 352-363, 2020 08 06.
Article
in English
| MEDLINE | ID: mdl-32693025
5.
Barriers to a successful healthcare transition for individuals with urea cycle disorders.
Mol Genet Metab
; 139(3): 107609, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37245377
6.
PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
Am J Med Genet A
; 191(6): 1619-1625, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36905087
7.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Article
in English
| MEDLINE | ID: mdl-31447100
8.
DNA methylation episignature in Gabriele-de Vries syndrome.
Genet Med
; 24(4): 905-914, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35027293
9.
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
Am J Hum Genet
; 103(6): 1030-1037, 2018 12 06.
Article
in English
| MEDLINE | ID: mdl-30503518
10.
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
Genet Med
; 23(5): 845-855, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33495531
11.
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Am J Med Genet A
; 185(8): 2315-2324, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33949769
12.
Clinical and laboratory interpretation of mitochondrial mRNA variants.
Hum Mutat
; 41(10): 1783-1796, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32652755
13.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(2): 352-363, 2017 Feb 02.
Article
in English
| MEDLINE | ID: mdl-28132691
14.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Am J Hum Genet
; 100(6): 907-925, 2017 Jun 01.
Article
in English
| MEDLINE | ID: mdl-28575647
15.
Correction: Interpretation of mitochondrial tRNA variants.
Genet Med
; 22(5): 979, 2020 May.
Article
in English
| MEDLINE | ID: mdl-32132679
16.
Correction: Interpretation of mitochondrial tRNA variants.
Genet Med
; 22(6): 1130, 2020 Jun.
Article
in English
| MEDLINE | ID: mdl-32269312
17.
Interpretation of mitochondrial tRNA variants.
Genet Med
; 22(5): 917-926, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31965079
18.
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.
Genet Med
; 21(9): 1977-1986, 2019 09.
Article
in English
| MEDLINE | ID: mdl-30670878
19.
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.
Genet Med
; 21(4): 987-993, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30181607
20.
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
Mol Genet Metab
; 128(4): 431-443, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31757659