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1 . Academic Journal
3104 – CLONAL MULTI-OMICS METHODS SIS-SEQ AND SIS-SKEW REVEAL BCOR AS A NEGATIVE REGULATOR OF EMERGENCY DENDRITIC CELL DEVELOPMENT
저자
by
Naik, Shalin
;
Tian, Luyi
;
Tomei, Sara
;
Schreuder, Jaring
;
Weber, Tom
, et al.
소스
In
Experimental Hematology
August 2021 100 Supplement:S92-S92
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7 . Academic Journal
KCTD1 and Scalp-Ear-Nipple ('Finlay–Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains.
저자
by
Wang, Dongmao
;
Trevillian, Paul
;
May, Stephen
;
Diakumis, Peter
;
Wang, Yanyan
, et al.
소스
Ophthalmic Genetics
. Feb2023, Vol. 44 Issue 1, p19-27. 9p.
Web of Science
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7 . Academic Journal
2023 - SIS-SEQ IDENTIFIES THE EARLIEST LINEAGE PRIMING REGULATORS OF DENDRITIC CELL FATE
저자
by
Tomei, Sara
;
Tian, Luyi
;
Schreuder, Jaring
;
Zalcenstein, Daniela
;
Tran, Jessica
, et al.
소스
In
Experimental Hematology
August 2019 76 Supplement:S47-S47
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7 . Academic Journal
A family study implicates GBE1 in the etiology of autism spectrum disorder.
저자
by
Fanjul‐Fernández, Miriam
;
Brown, Natasha J.
;
Hickey, Peter
;
Diakumis, Peter
;
Rafehi, Haloom
, et al.
소스
Human Mutation; Jan2022, Vol. 43 Issue 1, p16-29, 14p
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7 . Academic Journal
Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia
저자
by
Sleigh, Jamie W.
;
Leslie, Kate
;
Davidson, Andrew J.
;
Amor, David J.
;
Diakumis, Peter
, et al.
소스
Anesthesiology
. Nov 01, 2019 131(5):974-982
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7 . Academic Journal
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
저자
by
Rafehi, Haloom
;
Szmulewicz, David J.
;
Bennett, Mark F.
;
Sobreira, Nara L.M.
;
Pope, Kate
, et al.
소스
American Journal of Human Genetics
. Jul2019, Vol. 105 Issue 1, p151-165. 15p.
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7 . Academic Journal
Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.
저자
by
Stutterd, Chloe
;
Diakumis, Peter
;
Bahlo, Melanie
;
Fanjul Fernandez, Miriam
;
Leventer, Richard J.
, et al.
소스
Annals of Clinical & Translational Neurology
. Dec2017, Vol. 4 Issue 12, p859-864. 6p.
Open Access (Wiley)
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7 . Academic Journal
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
저자
by
Alston, Charlotte L.
;
Compton, Alison G.
;
Formosa, Luke E.
;
Strecker, Valentina
;
Oláhová, Monika
, et al.
소스
American Journal of Human Genetics
. Jul2016, Vol. 99 Issue 1, p217-227. 11p.
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7 . Academic Journal
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
저자
by
Kaiser, Frank J.
;
Ansari, Morad
;
Braunholz, Diana
;
Gil-Rodríguez, María Concepción
;
Decroos, Christophe
, et al.
소스
Human Molecular Genetics
. Jun 01, 2014 23(11):2888-2900
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7 . Academic Journal
Clonal multi-omics reveals Bcor as a negative regulator of emergency dendritic cell development.
저자
by
Tian, Luyi
;
Tomei, Sara
;
Schreuder, Jaring
;
Weber, Tom S.
;
Amann-Zalcenstein, Daniela
, et al.
소스
Immunity (10747613)
. Jun2021, Vol. 54 Issue 6, p1338-1338. 1p.
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