Publications:

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Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.

Orphanet Journal Of Rare Diseases

Fattizzo, Bruno B; Giannotta, Juri Alessandro JA; Cecchi, Nicola N; Barcellini, Wilma W

Publication Date: 2021-10-09

Variant appearance in text: CDAI: Arg1042Trp

PubMed Link: 34627331

Variant Present in the following documents:

• 13023_2021_Article_2036.pdf

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Codanin-1 mutations engineered in human erythroid cells demonstrate role of CDAN1 in terminal erythroid maturation.

Experimental Hematology

Murphy, Zachary C ZC; Getman, Michael R MR; Myers, Jaquelyn A JA; Burgos Villar, Kimberly N KN; Leshen, Emily E; Kurita, Ryo R; Nakamura, Yukio Y; Steiner, Laurie A LA

Publication Date: 2020-11

Variant appearance in text: CDAN1: R1042W

PubMed Link: 33075436

Variant Present in the following documents:

• Main text

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: CDAN1: 3124C>T; Arg1042Trp; rs80338697

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease.

Bmc Molecular And Cell Biology

Swickley, Grace G; Bloch, Yehoshua Y; Malka, Lidor L; Meiri, Adi A; Noy-Lotan, Sharon S; Yanai, Amiel A; Tamary, Hannah H; Motro, Benny B

Publication Date: 2020-03-23

Variant appearance in text: CDAN1: R1042W

PubMed Link: 32293259

Variant Present in the following documents:

• Main text

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A complex comprising C15ORF41 and Codanin-1: the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I).

The Biochemical Journal

Shroff, Maithili M; Knebel, Axel A; Toth, Rachel R; Rouse, John J

Publication Date: 2020-05-29

Variant appearance in text: CDAN1: R1042W

PubMed Link: 32239177

Variant Present in the following documents:

• Main text
• BCJ-477-1893.pdf

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: CDAN1: R1042W; rs80338697

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.

Blood Cells, Molecules & Diseases

Meznarich, Jessica A JA; Draper, Lauren L; Christensen, Robert D RD; Yaish, Hassan M HM; Luem, Nick D ND; Pysher, Theodore J TJ; Jung, Grace G; Nemeth, Elizabeta E; Ganz, Tomas T; Ward, Diane M DM

Publication Date: 2018-07

Variant appearance in text: CDAN1: Arg1042Trp

PubMed Link: 29599085

Variant Present in the following documents:

• Main text

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CDAN1: 3124C>T; Arg1042Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.

British Journal Of Haematology

Roy, Noémi B A NB; Wilson, Edward A EA; Henderson, Shirley S; Wray, Katherine K; Babbs, Christian C; Okoli, Steven S; Atoyebi, Wale W; Mixon, Avery A; Cahill, Mary R MR; Carey, Peter P; Cullis, Jonathan J; Curtin, Julie J; Dreau, Helene H; Ferguson, David J P DJ; Gibson, Brenda B; Hall, Georgina G; Mason, Joanne J; Morgan, Mary M; Proven, Melanie M; Qureshi, Amrana A; Sanchez Garcia, Joaquin J; Sirachainan, Nongnuch N; Teo, Juliana J; Tedgård, Ulf U; Higgs, Doug D; Roberts, David D; Roberts, Irene I; Schuh, Anna A

Publication Date: 2016-10

Variant appearance in text: CDAN1: Arg1042Trp

PubMed Link: 27432187

Variant Present in the following documents:

• Main text
• BJH-175-318.pdf

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Acute Liver Failure in a Pediatric Patient with Congenital Dysery-Thropoietic Anemia Type I Treated with Deferasirox.

Hematology Reports

Ling, Galina G; Pinsk, Vered V; Golan-Tripto, Inbal I; Ling, Eduard E

Publication Date: 2015-09-23

Variant appearance in text: CDAN1: R1042W

PubMed Link: 26487935

Variant Present in the following documents:

• Main text
• hr-2015-3-5987.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CDAN1: R1042W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply.

The Embo Journal

Ask, Katrine K; Jasencakova, Zuzana Z; Menard, Patrice P; Feng, Yunpeng Y; Almouzni, Geneviève G; Groth, Anja A

Publication Date: 2012-04-18

Variant appearance in text: CDAI: R1042W

PubMed Link: 22407294

Variant Present in the following documents:

• Main text

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Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated.

Haematologica

Noy-Lotan, Sharon S; Dgany, Orly O; Lahmi, Roxane R; Marcoux, Nathaly N; Krasnov, Tanya T; Yissachar, Nissan N; Ginsberg, Doron D; Motro, Benny B; Resnitzky, Peretz P; Yaniv, Isaac I; Kupfer, Gary M GM; Tamary, Hannah H

Publication Date: 2009-05

Variant appearance in text: CDAN1: R1042W

PubMed Link: 19336738

Variant Present in the following documents:

• Main text

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Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I.

Blood

Tamary, Hannah H; Shalev, Hanna H; Perez-Avraham, Galit G; Zoldan, Meira M; Levi, Itai I; Swinkels, Dorine W DW; Tanno, Toshihiko T; Miller, Jeffery L JL

Publication Date: 2008-12-15

Variant appearance in text: CDAN1: Arg1042Trp

PubMed Link: 18824595

Variant Present in the following documents:

• Main text

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