M. Bateman

发表

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

J. Rosenfeld, V. Maloney, J. Crolla, 2013, American journal of medical genetics. Part A.

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jay F Rowland, M. Hurles, Soo-Mi Park, 2019, The Lancet.

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

J. Rosenfeld, J. Barber, J. Graham, 2015, American journal of medical genetics. Part A.

A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect

E. Selkirk, I. Simonic, S. Mehta, 2010, American journal of medical genetics. Part A.

Haematological chimerism masquerading as disorder of sex development

K. Lachlan, S. Sakka, J. Davies, 2020, Clinical endocrinology.

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.

A. Green, J. Barber, L. Willatt, 1998, Journal of medical genetics.

Another Family with a Euchromatic Duplication Variant of 9q13-q21.1 Derived from Segmentally Duplicated Pericentromeric Euchromatin

V. Maloney, J. Barber, M. Bateman, 2013, Cytogenetic and Genome Research.

Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted?

Shuwen Huang, A. Collins, J. Barber, 2011, American journal of medical genetics. Part A.

16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

Shuwen Huang, V. Maloney, J. Barber, 2012, European Journal of Human Genetics.

A Novel Pseudo-Dicentric Variant of 16p11.2–q11.2 Contains Euchromatin from 16p11.2–p11.1 and Resembles Pathogenic Duplications of Proximal 16q

V. Maloney, J. Barber, C. Fagerberg, 2012, Cytogenetic and Genome Research.

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities

Shuwen Huang, V. Maloney, A. Collins, 2018, American journal of medical genetics. Part A.

Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region

A. Collins, J. Barber, D. Hunt, 2020, Cytogenetic and Genome Research.