Search details
1.
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.
Immunity
; 53(3): 672-684.e11, 2020 09 15.
Article
in English
| MEDLINE | ID: mdl-32750333
2.
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
Clin Genet
; 104(3): 371-376, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37191084
3.
A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency.
Am J Med Genet A
; 191(4): 1089-1093, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36579410
4.
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.
Am J Med Genet A
; 191(11): 2743-2748, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37675855
5.
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.
Hum Mutat
; 42(6): 685-693, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33783914
6.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Hum Genet
; 140(12): 1709-1731, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34652576
7.
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
Genet Med
; 23(11): 2213-2218, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34230638
8.
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.
Muscle Nerve
; 63(4): 516-524, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33389762
9.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain
; 143(8): 2437-2453, 2020 08 01.
Article
in English
| MEDLINE | ID: mdl-32761064
10.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Am J Hum Genet
; 101(2): 239-254, 2017 Aug 03.
Article
in English
| MEDLINE | ID: mdl-28777931
11.
Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defects.
Am J Med Genet A
; 182(5): 1263-1267, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32134193
12.
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.
Hum Mutat
; 39(4): 563-578, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29314548
13.
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.
Hum Mutat
; 38(4): 373-377, 2017 04.
Article
in English
| MEDLINE | ID: mdl-28054444
14.
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Am J Med Genet A
; 173(10): 2763-2771, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28777491
15.
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.
J Med Genet
; 53(6): 389-96, 2016 06.
Article
in English
| MEDLINE | ID: mdl-26792856
16.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Am J Hum Genet
; 102(4): 713, 2018 04 05.
Article
in English
| MEDLINE | ID: mdl-29625026
17.
Quantitative Assessment of Facial Asymmetry Using Three-Dimensional Surface Imaging in Adults: Validating the Precision and Repeatability of a Global Approach.
Cleft Palate Craniofac J
; 53(1): 126-31, 2016 01.
Article
in English
| MEDLINE | ID: mdl-25489769
18.
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.
Hum Mutat
; 36(6): 587-92, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25754315
19.
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.
Am J Hum Genet
; 91(1): 171-9, 2012 Jul 13.
Article
in English
| MEDLINE | ID: mdl-22770981
20.
Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.
Brain
; 137(Pt 4): 1068-79, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24561559