1.
Genetic variance in Nitric Oxide Synthase and Endothelin Genes among children with and without Endothelial Dysfunction
Siriporn
Chatsuriyawong,
David
Gozal,
Leila
Kheirandish-Gozal,
Rakesh
Bhattacharjee,
Ahamed
A
Khalyfa,
Yang
Wang,
Hakon
Hakonarson,
Brendan
Keating,
Wasana
Sukhumsirichart,
Abdelnaby
Khalyfa
Journal of Translational Medicine 2013, 11 :227 (25 September 2013)
Abstract | Full text | PDF | PubMed
2.
The broad autism phenotype predicts child functioning in autism spectrum disorders
Christina
R
Maxwell,
Julia
Parish-Morris,
Olivia
Hsin,
Jennifer
C
Bush,
Robert
T
Schultz
Journal of Neurodevelopmental Disorders 2013, 5 :25 (22 September 2013)
Abstract | Full text | PDF | PubMed
3.
Efficient digest of high-throughput sequencing data in a reproducible report
Zhe
Zhang,
Jeremy
Leipzig,
Ariella
Sasson,
Angela
M
Yu,
Juan
C
Perin,
Hongbo
M
Xie,
Mahdi
Sarmady,
Patrick
V
Warren,
Peter
S
White
BMC Bioinformatics 2013, 14 (Suppl 11):S3 (13 September 2013)
Abstract | Full text | PDF
4.
Kids Safe and Smokefree (KiSS): a randomized controlled trial of a multilevel intervention to reduce secondhand tobacco smoke exposure in children
Stephen
J
Lepore,
Jonathan
P
Winickoff,
Beth
Moughan,
Tyra
C
Bryant-Stephens,
Daniel
R
Taylor,
David
Fleece,
Adam
Davey,
Uma
S
Nair,
Melissa
Godfrey,
Bradley
N
Collins
BMC Public Health 2013, 13 :792 (30 August 2013)
Abstract | Full text | PDF | PubMed
5.
Oral food challenge to wheat: a near-fatal anaphylaxis and review of 93 food challenges in children
Antonella
Cianferoni,
Karishma
Khullar,
Rushani
Saltzman,
Joel
Fiedler,
Jackie
P
Garrett,
David
R
Naimi,
Jonathan
M
Spergel
World Allergy Organization Journal 2013, 6 :14 (21 August 2013)
Abstract | Full text | PDF | PubMed
|
Editor’s summary
A retrospective study looking at 93 cases of oral food challenge in children indicates that wheat can be a risk factor for severe reaction, including anaphylaxis, despite the perception that the risk for severe reaction to wheat is lower than that for egg, milk and peanut.
6.
Genotype-phenotype correlations in recessive RYR1 -related myopathies
Kimberly
Amburgey,
Angela
Bailey,
Jean
H
Hwang,
Mark
A
Tarnopolsky,
Carsten
G
Bonnemann,
Livija
Medne,
Katherine
D
Mathews,
James
Collins,
Jasper
R
Daube,
Gregory
P
Wellman,
Brian
Callaghan,
Nigel
F
Clarke,
James
J
Dowling
Orphanet Journal of Rare Diseases 2013, 8 :117 (6 August 2013)
Abstract | Full text | PDF | PubMed
7.
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
Kai
Wang,
Cecilia
Kim,
Jonathan
Bradfield,
Yunfei
Guo,
Elina
Toskala,
Frederick
G
Otieno,
Cuiping
Hou,
Kelly
Thomas,
Christopher
Cardinale,
Gholson
J
Lyon,
Ryan
Golhar,
Hakon
Hakonarson
Genome Medicine 2013, 5 :67 (26 July 2013)
Abstract | Full text | PDF | PubMed
|
Editor’s summary
DNA and RNA sequencing identifies mutations within RBCK1 in children with a previously undiagnosed disease characterised by progressive muscular weakness and cardiomyopathy.
8.
Potential of the SPY intraoperative perfusion assessment system to reduce ischemic complications in immediate postmastectomy breast reconstruction
Mohit
Sood,
Paul
Glat
Annals of Surgical Innovation and Research 2013, 7 :9 (23 July 2013)
Abstract | Full text | PDF | PubMed
9.
ERBB3 is a marker of a ganglioneuroblastoma/ganglioneuroma-like expression profile in neuroblastic tumours
Annica
Wilzén,
Cecilia
Krona,
Baldur
Sveinbjörnsson,
Erik
Kristiansson,
Daniel
Dalevi,
Ingrid
Øra,
Katleen
De Preter,
Raymond
L
Stallings,
John
Maris,
Rogier
Versteeg,
Staffan
Nilsson,
Per
Kogner,
Frida
Abel
Molecular Cancer 2013, 12 :70 (8 July 2013)
Abstract | Full text | PDF | PubMed
10.
Association of arterial blood pressure and CPR quality in a child using three different compression techniques, a case report
Marko
Sainio,
Robert
M
Sutton,
Heini
Huhtala,
Joar
Eilevstjønn,
Jyrki
Tenhunen,
Klaus
T
Olkkola,
Vinay
M
Nadkarni,
Sanna
Hoppu
Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine 2013, 21 :51 (2 July 2013)
Abstract | Full text | PDF | PubMed
11.
Mutually dependent degradation of Ama1p and Cdc20p terminates APC/C ubiquitin ligase activity at the completion of meiotic development in yeast
Grace
S
Tan,
Rebecca
Lewandowski,
Michael
J
Mallory,
Randy
Strich,
Katrina
F
Cooper
Cell Division 2013, 8 :9 (1 July 2013)
Abstract | Full text | PDF | PubMed
12.
Standardized image interpretation and post processing in cardiovascular magnetic resonance: Society for Cardiovascular Magnetic Resonance (SCMR) Board of Trustees Task Force on Standardized Post Processing
Jeanette
Schulz-Menger,
David
A
Bluemke,
Jens
Bremerich,
Scott
D
Flamm,
Mark
A
Fogel,
Matthias
G
Friedrich,
Raymond
J
Kim,
Florian
von Knobelsdorff-Brenkenhoff,
Christopher
M
Kramer,
Dudley
J
Pennell,
Sven
Plein,
Eike
Nagel
Journal of Cardiovascular Magnetic Resonance 2013, 15 :35 (1 May 2013)
Abstract | Full text | PDF | PubMed
13.
Whole-genome sequencing in an autism multiplex family
Lingling
Shi,
Xu
Zhang,
Ryan
Golhar,
Frederick
G
Otieno,
Mingze
He,
Cuiping
Hou,
Cecilia
Kim,
Brendan
Keating,
Gholson
J
Lyon,
Kai
Wang,
Hakon
Hakonarson
Molecular Autism 2013, 4 :8 (18 April 2013)
Abstract | Full text | PDF | PubMed
14.
Mitotic bookmarking by transcription factors
Stephan
Kadauke,
Gerd
A
Blobel
Epigenetics & Chromatin 2013, 6 :6 (2 April 2013)
Abstract | Full text | PDF | PubMed
15.
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing
Jason
O'Rawe,
Tao
Jiang,
Guangqing
Sun,
Yiyang
Wu,
Wei
Wang,
Jingchu
Hu,
Paul
Bodily,
Lifeng
Tian,
Hakon
Hakonarson,
W Evan
Johnson,
Zhi
Wei,
Kai
Wang,
Gholson
J
Lyon
Genome Medicine 2013, 5 :28 (27 March 2013)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
|
Editor’s summary
Head-to-head comparison of widely used variant calling pipelines including SOAP, GATK and Complete Genomics using default parameters reveals discrepancies between the pipelines.
16.
Race and gender variation in response to evoked inflammation
Jane
F
Ferguson,
Parth
N
Patel,
Rhia
Y
Shah,
Claire
K
Mulvey,
Ram
Gadi,
Prabhjot
S
Nijjar,
Haris
M
Usman,
Nehal
N
Mehta,
Rachana
Shah,
Stephen
R
Master,
Kathleen
J
Propert,
Muredach
P
Reilly
Journal of Translational Medicine 2013, 11 :63 (12 March 2013)
Abstract | Full text | PDF | PubMed
17.
Validation of ICD-9-CM codes for identification of acetaminophen-related emergency department visits in a large pediatric hospital
Sofia
de Achaval,
Chris
Feudtner,
Shana
Palla,
Maria
E
Suarez-Almazor
BMC Health Services Research 2013, 13 :72 (21 February 2013)
Abstract | Full text | PDF | PubMed
18.
Coronary artery involvement in pediatric Takayasu’s arteritis: Case report and literature review
Shaun
Mohan,
Sarah
Poff,
Kathryn
S
Torok
Pediatric Rheumatology 2013, 11 :4 (12 February 2013)
Abstract | Full text | PDF | PubMed
19.
Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis
and management
Katherine
Lord,
Diva
D
De León
International Journal of Pediatric Endocrinology 2013, 2013 :3 (6 February 2013)
Abstract | Full text | PDF | PubMed
20.
Lack of transient receptor potential vanilloid 1 channel modulates the development of neurogenic bladder dysfunction induced by cross-sensitization in afferent pathways
Qi
Lei,
Xiao-Qing
Pan,
Antonio
N
Villamor,
Tirsit
S
Asfaw,
Shaohua
Chang,
Steven
A
Zderic,
Anna
P
Malykhina
Journal of Neuroinflammation 2013, 10 :3 (11 January 2013)
Abstract | Full text | PDF | PubMed
21.
A 17 year old with isolated proximal tibiofibular joint arthritis
Scott
W
Canna,
Nancy
A
Chauvin,
Jon
M
Burnham
Pediatric Rheumatology 2013, 11 :1 (9 January 2013)
Abstract | Full text | PDF | PubMed
22.
An unruptured, thrombosed 10 cm right coronary artery aneurysm mimicking a pericardial cyst
Aakash
Chauhan,
Harsha
Musunuru,
Richard
L
Hallett,
Mark
Walsh,
Szabolcs
Szabo,
Walter
Halloran
Journal of Cardiothoracic Surgery 2013, 8 :2 (7 January 2013)
Abstract | Full text | PDF | PubMed
23.
A specific family of interspersed repeats (SINEs) facilitates meiotic synapsis in mammals
Matthew
E
Johnson,
Ross
A
Rowsey,
Sofia
Shirley,
Catherine
VandeVoort,
Jeffrey
Bailey,
Terry
Hassold
Molecular Cytogenetics 2013, 6 :1 (1 January 2013)
Abstract | Full text | PDF | PubMed
24.
Managing health worker migration: a qualitative study of the Philippine response to nurse brain drain
Roland
M
Dimaya,
Mary
K
McEwen,
Leslie
A
Curry,
Elizabeth
H
Bradley
Human Resources for Health 2012, 10 :47 (19 December 2012)
Abstract | Full text | PDF | PubMed
25.
High-resolution deep sequencing reveals biodiversity, population structure, and persistence of HIV-1 quasispecies within host ecosystems
Li
Yin,
Li
Liu,
Yijun
Sun,
Wei
Hou,
Amanda
C
Lowe,
Brent
P
Gardner,
Marco
Salemi,
Wilton
B
Williams,
William
G
Farmerie,
John
W
Sleasman,
Maureen
M
Goodenow
Retrovirology 2012, 9 :108 (17 December 2012)
Abstract | Full text | PDF | PubMed
|
Editor’s summary
Deep sequencing defines HIV-1 population complexity and structure, reveals the ebb and flow of dominant and rare viral variants in the host ecosystem, and identifies an evolutionary record of low-frequency cell-associated viral V3 variants that persist for years.