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April 2014 - Volume 51 - 4
Review
New loci
Epigenetics
Genotype-phenotype correlations
Cancer genetics
Chromosomal rearrangements
Phenotypes
Genome-wide studies
Review
Normal and aberrant splicing of
LMNA
(23 January, 2014)
Yue-Bei
Luo
,
Frank L
Mastaglia
,
Steve D
Wilton
New loci
Original article: NECAP1 loss of function leads to a severe infantile epileptic encephalopathy
(7 January, 2014)
Anas M
Alazami
,
Hadia
Hijazi
,
Amal Y
Kentab
,
Fowzan S
Alkuraya
Epigenetics
Original article: Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes
(5 February, 2014)
Louise E
Docherty
,
Faisal I
Rezwan
,
Rebecca L
Poole
,
Hannah
Jagoe
,
Hannah
Lake
,
Gabrielle A
Lockett
,
Hasan
Arshad
,
David I
Wilson
,
John W
Holloway
,
I Karen
Temple
,
Deborah J G
Mackay
Genotype-phenotype correlations
Original article: Truncating mutations in
TAF4B
and
ZMYND15
causing recessive azoospermia
(15 January, 2014)
Free
Özgecan
Ayhan
,
Mahmut
Balkan
,
Ayse
Guven
,
Renin
Hazan
,
Murat
Atar
,
Atalay
Tok
,
Aslıhan
Tolun
Cancer genetics
Original article: Functional analysis of
MSH2
unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair
(5 February, 2014)
Eva AL
Wielders
,
Jan
Hettinger
,
Rob
Dekker
,
C Marleen
Kets
,
Marjolijn J
Ligtenberg
,
Arjen R
Mensenkamp
,
Ans MW
van den Ouweland
,
Judith
Prins
,
Anja
Wagner
,
Winand NM
Dinjens
,
Hendrikus Jan
Dubbink
,
Liselotte P
van Hest
,
Fred
Menko
,
Frans
Hogervorst
,
Senno
Verhoef
,
Hein
te Riele
Chromosomal rearrangements
Original article: A novel immunodeficiency syndrome associated with partial trisomy 19p13
(15 January, 2014)
Markus G
Seidel
,
Celia
Duerr
,
Stavroula
Woutsas
,
Anette
Schwerin-Nagel
,
Kambis
Sadeghi
,
Jürgen
Neesen
,
Sabine
Uhrig
,
Elisangela
Santos-Valente
,
Winfried F
Pickl
,
Wolfgang
Schwinger
,
Christian
Urban
,
Kaan
Boztug
,
Elisabeth
Förster-Waldl
Short report: Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for
DYNC1I1
exonic enhancers of
DLX5/6
expression in humans
(23 January, 2014)
Hana
Lango Allen
,
Richard
Caswell
,
Weijia
Xie
,
Xiao
Xu
,
Christopher
Wragg
,
Peter D
Turnpenny
,
Claire L S
Turner
,
Michael N
Weedon
,
Sian
Ellard
Phenotypes
Short report: Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation
(13 January, 2014)
Asaf
Ta-Shma
,
Nael
El-lahham
,
Simon
Edvardson
,
Polina
Stepensky
,
Amiram
Nir
,
Zeev
Perles
,
Sagui
Gavri
,
Julius
Golender
,
Nurit
Yaakobi-Simhayoff
,
Avraham
Shaag
,
Azaria J J T
Rein
,
Orly
Elpeleg
Original article: A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by
KCNJ11
mutation
(13 January, 2014)
Mamdouh
Albaqumi
,
Fatimah A
Alhabib
,
Hanan E
Shamseldin
,
Firdous
Mohammed
,
Fowzan S
Alkuraya
Genome-wide studies
Original article:
POMK
mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability
(20 February, 2014)
Anja
von Renesse
,
Mina V
Petkova
,
Susanne
Lützkendorf
,
Jan
Heinemeyer
,
Esther
Gill
,
Christoph
Hübner
,
Arpad
von Moers
,
Werner
Stenzel
,
Markus
Schuelke
Issue Information
Table of Contents (PDF)
Front Cover
Front Matter (PDF)