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1.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Article
in English
| MEDLINE | ID: mdl-37467750
2.
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
Nucleic Acids Res
; 52(4): e18, 2024 Feb 28.
Article
in English
| MEDLINE | ID: mdl-38153174
3.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Am J Hum Genet
; 108(10): 1981-2005, 2021 10 07.
Article
in English
| MEDLINE | ID: mdl-34582790
4.
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Am J Hum Genet
; 108(2): 337-345, 2021 02 04.
Article
in English
| MEDLINE | ID: mdl-33434492
5.
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
Am J Med Genet A
; 191(3): 794-804, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36598158
6.
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Hum Mutat
; 43(7): 900-918, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35344616
7.
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.
Genet Med
; 24(11): 2262-2273, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36112137
8.
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
Am J Med Genet A
; 188(3): 735-750, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34816580
9.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Hum Genet
; 140(7): 1011-1029, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-33710394
10.
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
Brain
; 143(10): e83, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-33011761
11.
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
Genome Med
; 16(1): 53, 2024 Apr 03.
Article
in English
| MEDLINE | ID: mdl-38570875
12.
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
NPJ Genom Med
; 9(1): 18, 2024 Mar 01.
Article
in English
| MEDLINE | ID: mdl-38429302
13.
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.
HGG Adv
; 4(3): 100188, 2023 07 13.
Article
in English
| MEDLINE | ID: mdl-37124138
14.
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Nat Commun
; 14(1): 2026, 2023 04 11.
Article
in English
| MEDLINE | ID: mdl-37041148
15.
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
Genome Med
; 14(1): 122, 2022 10 27.
Article
in English
| MEDLINE | ID: mdl-36303224
16.
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
HGG Adv
; 3(1): 100074, 2022 Jan 13.
Article
in English
| MEDLINE | ID: mdl-35047859
17.
An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates.
F1000Res
; 10: 246, 2021.
Article
in English
| MEDLINE | ID: mdl-34621504
18.
Comparison of complications and functional results of unstable intertrochanteric fractures of femur treated with proximal femur nails and cemented hemiarthroplasty.
J Clin Orthop Trauma
; 10(2): 296-301, 2019.
Article
in English
| MEDLINE | ID: mdl-30828197
19.
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.
Dev Cell
; 51(6): 713-729.e6, 2019 12 16.
Article
in English
| MEDLINE | ID: mdl-31735666
20.
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
J Clin Endocrinol Metab
; 104(8): 3049-3067, 2019 08 01.
Article
in English
| MEDLINE | ID: mdl-31042289
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