Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs2742234

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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The advances of genetics research on Hirschsprung's disease.

Pediatric Investigation

Ke, Juntao J; Zhu, Ying Y; Miao, Xiaoping X

Publication Date: 2018-09

Variant appearance in text: rs2742234

PubMed Link: 32851260

Variant Present in the following documents:

• Main text
• PED4-2-189.pdf

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Large-scale replication study identified multiple independent SNPs in RET synergistically associated with Hirschsprung disease in Southern Chinese population.

Aging

Zhang, Yan Y; He, Qiuming Q; Zhang, Ruizhong R; Zhang, Hong H; Zhong, Wei W; Xia, Huimin H

Publication Date: 2017-09-20

Variant appearance in text: rs2742234

PubMed Link: 28930629

Variant Present in the following documents:

• Main text
• aging-09-1996.pdf

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Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing.

Journal Of Thyroid Research

Margraf, R L RL; Durtschi, J D JD; Stephens, J E JE; Perez, M M; Voelkerding, K V KV

Publication Date: 2012

Variant appearance in text: RET: 2284+430C>T

PubMed Link: 22545224

Variant Present in the following documents:

• Main text
• JTR2012-318232.pdf

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Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans.

The Journal Of Clinical Investigation

Ngan, Elly Sau-Wai ES; Garcia-Barceló, Maria-Mercè MM; Yip, Benjamin Hon-Kei BH; Poon, Hiu-Ching HC; Lau, Sin-Ting ST; Kwok, Carmen Ka-Man CK; Sat, Eric E; Sham, Mai-Har MH; Wong, Kenneth Kak-Yuen KK; Wainwright, Brandon J BJ; Cherny, Stacey S SS; Hui, Chi-Chung CC; Sham, Pak Chung PC; Lui, Vincent Chi-Hang VC; Tam, Paul Kwong-Hang PK

Publication Date: 2011-09

Variant appearance in text: rs2742234

PubMed Link: 21841314

Variant Present in the following documents:

• Main text

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Variant identification in multi-sample pools by illumina genome analyzer sequencing.

Journal Of Biomolecular Techniques : Jbt

Margraf, Rebecca L RL; Durtschi, Jacob D JD; Dames, Shale S; Pattison, David C DC; Stephens, Jack E JE; Voelkerding, Karl V KV

Publication Date: 2011-07

Variant appearance in text: RET: 2284+430C>T

PubMed Link: 21738440

Variant Present in the following documents:

• Main text

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Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.

Plos One

Cornes, Belinda K BK; Tang, Clara S CS; Leon, Thomas Y Y TY; Hui, Kenneth J W S KJ; So, Man-Ting MT; Miao, Xiaoping X; Cherny, Stacey S SS; Sham, Pak C PC; Tam, Paul K H PK; Garcia-Barcelo, Maria-Merce MM

Publication Date: 2010-06-02

Variant appearance in text: rs2742234

PubMed Link: 20532249

Variant Present in the following documents:

• Main text
• pone.0010918.pdf

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Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Garcia-Barcelo, Maria-Mercè MM; Tang, Clara Sze-Man CS; Ngan, Elly Sau-Wai ES; Lui, Vincent Chi-Hang VC; Chen, Yan Y; So, Man-Ting MT; Leon, Thomas Yuk-Yu TY; Miao, Xiao-Ping XP; Shum, Cathy Ka-Yee CK; Liu, Feng-Qin FQ; Yeung, Ming-Yiu MY; Yuan, Zhen-Wei ZW; Guo, Wei-Hong WH; Liu, Lei L; Sun, Xiao-Bing XB; Huang, Liu-Ming LM; Tou, Jin-Fa JF; Song, You-Qiang YQ; Chan, Danny D; Cheung, Kenneth M C KM; Wong, Kenneth Kak-Yuen KK; Cherny, Stacey S SS; Sham, Pak-Chung PC; Tam, Paul Kwong-Hang PK

Publication Date: 2009-02-24

Variant appearance in text: rs2742234

PubMed Link: 19196962

Variant Present in the following documents:

• Main text

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