Search details
1.
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Hum Mol Genet
; 32(19): 2913-2928, 2023 09 16.
Article
in English
| MEDLINE | ID: mdl-37462524
2.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Am J Hum Genet
; 109(5): 928-943, 2022 05 05.
Article
in English
| MEDLINE | ID: mdl-35397207
3.
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
PLoS Genet
; 18(12): e1010504, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36480544
4.
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.
Am J Med Genet A
; 194(4): e63501, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38082334
5.
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
Am J Med Genet A
; 194(6): e63544, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38258498
6.
Anxiety and dysautonomia symptoms in patients with a NaV1.7 mutation and the potential benefits of low-dose short-acting guanfacine.
Clin Auton Res
; 34(1): 191-201, 2024 02.
Article
in English
| MEDLINE | ID: mdl-38064009
7.
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.
J Med Genet
; 60(4): 352-358, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36002240
8.
Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus.
Hum Mol Genet
; 30(8): 658-671, 2021 05 17.
Article
in English
| MEDLINE | ID: mdl-33729517
9.
Venous malformation may be a feature of EXT1-related hereditary multiple exostoses: A report of two unrelated probands.
Am J Med Genet A
; 191(6): 1570-1575, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36869625
10.
Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome.
Am J Med Genet A
; 191(4): 983-994, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36710374
11.
The impact of GeneMatcher on international data sharing and collaboration.
Hum Mutat
; 43(6): 668-673, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35170833
12.
Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Hum Mutat
; 43(6): 782-790, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35191117
13.
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Hum Mol Genet
; 29(22): 3662-3678, 2020 12 04.
Article
in English
| MEDLINE | ID: mdl-33276377
14.
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Am J Hum Genet
; 105(1): 48-64, 2019 07 03.
Article
in English
| MEDLINE | ID: mdl-31178128
15.
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Am J Hum Genet
; 105(1): 151-165, 2019 07 03.
Article
in English
| MEDLINE | ID: mdl-31230722
16.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Genet Med
; 24(4): 784-797, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35148959
17.
Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1.
Am J Med Genet A
; 188(7): 2217-2225, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35384273
18.
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.
J Med Genet
; 58(10): 712-716, 2021 10.
Article
in English
| MEDLINE | ID: mdl-32820033
19.
Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate.
Cleft Palate Craniofac J
; : 10556656221135926, 2022 Nov 16.
Article
in English
| MEDLINE | ID: mdl-36384317
20.
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Hum Genet
; 140(9): 1299-1312, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-34185153