# Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
**Type:** Papers
**Canonical URL:** https://scholariq.org/papers/spectrum-of-i-mll2-i-i-alr-i-mutations-in-110-cases-of-kabuki-syndrome/
## Facts
| Field | Value |
| --- | --- |
| Author Names | Mark Hannibal,Kati J. Buckingham,Sarah Ng,Jeffrey E. Ming,Anita E. Beck,Margaret J. McMillin,Heidi Gildersleeve,Abigail W. Bigham,Holly K. Tabor,Heather C. Mefford,Joseph Cook,Koh‐ichiro Yoshiura,Tadashi Matsumoto,Naomichi Matsumoto,Noriko Miyake,Hidefumi Tonoki,Kenji Naritomi,Tadashi Kaname,Toshiro Nagai,Hirofumi Ohashi,Kenji Kurosawa,Jia‐Woei Hou,Tohru Ohta,Deshung Liang,Akira Sudo,Colleen A. Morris,Siddharth Banka,Graeme C. Black,Jill Clayton‐Smith,Deborah A. Nickerson,Elaine H. Zackai,Tamim H. Shaikh,Dian Donnai,Norio Niikawa,Jay Shendure,Michael J. Bamshad |
| Citations | 196 |
| DOI | 10.1002/ajmg.a.34074 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | green |
| OA URL | https://www.ncbi.nlm.nih.gov/pmc/articles/3121928 |
| OpenAlex ID | https://openalex.org/W2116414062 |
| PMID | 21671394 |
| Type | article |
| Year | 2011 |
## Paper authors
- [Toshiro Nagai](https://scholariq.org/researchers/toshiro-nagai/)
## Paper journal
- [American Journal of Medical Genetics Part A](https://scholariq.org/journals/american-journal-of-medical-genetics-part-a/)
## Paper primary topic
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
## Paper topics
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.