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Cell|August 23, 1996
MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinomaK Eppert, S W Scherer, H Ozcelik, et al.
Genome Medicine|December 1, 2017
Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophreniaChelsea Lowther, Daniele Merico, Gregory Costain, et al.
American Journal of Medical Genetics. Part A|March 6, 2007
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delayAlisa Nakamine, Leonid Ouchanov, Patricia Jiménez, et al.
American Journal of Medical Genetics. Part A|August 18, 2016
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencingMuhammad Imran Naseer, Sameera Sogaty, Mahmood Rasool, et al.
NPJ Genomic Medicine|May 3, 2019
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variantsAda J S Chan, Cheryl Cytrynbaum, Ny Hoang, et al.
European Journal of Human Genetics : EJHG|April 1, 2022
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genesZain Awamleh, Eric Chater-Diehl, Sanaa Choufani, et al.
BMC Medical Genetics|November 23, 2012
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotypeBridget A Fernandez, Jane S Green, Ford Bursey, et al.
Toxicological Sciences : an Official Journal of the Society of Toxicology|May 22, 2016
The Emergence of Systematic Review in ToxicologyMartin L Stephens, Kellyn Betts, Nancy B Beck, et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire|March 14, 2018
Copy number variation in fetal alcohol spectrum disorderMehdi Zarrei, Geoffrey G Hicks, James N Reynolds, et al.
Nucleic Acids Research|March 10, 2001
Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5M D Wilson, C Riemer, D W Martindale, et al.
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