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6 research outputs found
A Mutation in TTF1 / NKX2.1 Is Associated With Familial Neuroendocrine Cell Hyperplasia of Infancy
Author
1000 Genomes Project Consortium
Adzhubei
+50 more
Alan S. Brody
Amin
Austin
Breedveld
Brody
Bullard
Bullard
Cameron
Choi
Christophe-Hobertus
Cottin
Cutz
DeFelice
Deterding
Deterding
Deutsch
Devriendt
Gail H. Deutsch
Galambos
Garcia
Guillot
Hamvas
Johnson
Johnson
Johnson
Kimura
Kleinlein
Kolla
Krude
Lawrence M. Nogee
Lisa R. Young
Loyd
Lukkarinen
Ng
NHLBI Exome Sequencing Project (ESP)
Perrin
Pohlenz
Popler
Popler
Ronald E. Bokulic
Schindler
Stahlman
Steele
Sunday
Tagne
Teissier
Thomas
Wambach
Wert
Young
Publication venue
'American College of Chest Physicians'
Publication date
Field of study
No full text
Crossref
SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes
Author
Adler
Ambily Sivadas
+47 more
Ankit Verma
Anoop Kumar
Anop Singh Ranawat
Atkinson
Atul Kumar Kashyap
Auton
Ayuso
Balloy
Chambers
Drmanac
Exome Variant Server NHLBI Exome Sequencing Project (ESP)
Fakhro
Feero
Gu
Gupta
Hamel
Hunter
Jin
Jithesh
Judith Mary Hariprakash
Kitzman
Lek
Majumder
Mallick
Metspalu
Mondal
Nangia
Ngamphiw
Paras Sehgal
Parmeggiani
Patowary
Rijith Jayarajan
Rowmika Ravi
Sankar
Schuster
Sen
Shamsudheen Karuthedath Vellarikkal
Sivadas
Sridhar Sivasubbu
Vigneshwar Senthivel
Vijayalakshmi Mahadevan
Vinod Scaria
Vishal Dixit
Wang
Wong
Xing
Yngvadottir
Publication venue
'Oxford University Press (OUP)'
Publication date
Field of study
No full text
Crossref
Nicotine N-glucuronidation relative to N-oxidation and C-oxidation and UGT2B10 genotype in five ethnic/racial groups
Author
1000 Genomes Project Consortium
Benowitz
+50 more
Benowitz
Benowitz
Benowitz
Berg
Berg
Bloom
Bloom
Brown
Caraballo
Chen
Chen
Chen
Chen
Chen
Daniel O. Stram
Delaneau
Derby
Derby
Elizabeth F. Thompson
Fujieda
Haiman
Hecht
Howie
Hukkanen
Jalas
Kaivosaari
Kato
Kolonel
Kuehl
Kumasaka
Loic Le Marchand
Lynne R. Wilkens
Murphy
Murphy
NHLBI Exome Sequencing Project (ESP)
Patel
Patten
Perez-Stable
Roethig
Scherer
Sharon E. Murphy
Siegel
Sung-Shim L. Park
von Weymarn
Wagenknecht
Wang
Wassenaar
Wong
Yesha Patel
Zhu
Publication venue
'Oxford University Press (OUP)'
Publication date
Field of study
No full text
Crossref
exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels
Author
1000 Genomes Project Consortium
Adzhubei
+48 more
B. Maranhao
Cideciyan
Cukras
DePristo
Ensembl
Ferrer-Costa
forge
Friedman
G.A. Silva
Gonzalez-Fernandez
Herz
I. of Medical Genetics in Cardiff
International HapMap 3 Consortium
J.F. Hejtmancik
J.L. Duncan
J.R. Heckenlively
Jeon
Joernvall
K.E. Branham
Kaul
Kaul
Kozomara
Kumar
L. for the Molecular Diagnosis of Inherited Eye Diseases
Le Quesne Stabej
Li
Li
M.A. Naeem
McGee
Nakamura
NCBI
NCBI
Niwa
P. Biswas
P.L. Lee
R. Ayyagari
Reese
S. Riazuddin
S.A. Riazuddin
S.N. Khan
Schwarz
Seelow
Tavtigian
Toomes
UCSC
W. NHLBI GO Exome Sequencing Project (ESP)
Wang
Yamamoto
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Heterogeneous Pulmonary Phenotypes Associated With Mutations in the Thyroid Transcription Factor Gene NKX2-1
Author
Aaron Hamvas
Amin
+47 more
Ann C. Halbower
Benjamin Planer
Boggaram
Breedveld
Cao
Carré
Danielle N. Alfano
Davé
DeFelice
Derek A. Uchida
Deutsch
Devriendt
F. Sessions Cole
Frances V. White
Galambos
Griese
Guillot
Iwatani
Jill A. Rosenfeld
Kerr
Kimura
Kleinlein
Kolla
Krude
Lawrence M. Nogee
Lee D. Williames
Li
Lisa R. Young
Maquet
Mark J. Stephan
Megan K. Dishop
Minoo
Minoo
Moeller
Moya
NHLBI Exome Sequencing Project (ESP)
Pohlenz
Robert Roger Lebel
Robin R. Deterding
Shulenin
Silberschmidt
Susan E. Wert
Teissier
Tryka
Wert
Willemsen
Zannini
Publication venue
'American College of Chest Physicians'
Publication date
Field of study
No full text
Crossref
A homozygous variant in TBPL2
Author
1000 Genomes
Adzhubei
+57 more
Akhtar
Akhtar
Alazami
Ashburner
Auton
Bartfai
Bonnet
Brown
Chen
Chen
Chen
Dean
Deato
Dekel
Desmet
ESP6500: National Heart Lung, and Blood Institute Grand Opportunity (NHLBI GO) Exome Sequencing Project (ESP)
Fastp
FastQC
Feng
Gazdag
Gazdag
gnomAD: Genome Aggregation Database
GO: Gene Ontology
Hebsgaard
HSF: Human Splicing Finder
Jacobi
Jallow
Jones
Kanehisa
Karczewski
KEGG: Kyoto Encyclopedia of Genes and Genomes
Kumar
MacArthur
Martianov
Martianov
Mehlmann
Mu
Muller
MutationTaster
NetGene2
NNSplice: Splice Site Prediction by Neural Network also named as BDGP: Berkeley Drosophila Genome Project
O'Connor
Polyphen-2: Polymorphism Phenotyping v2
Reese
Richards
Robinson
Schwarz
SIFT: Sorting Intolerant from Tolerant
Su
Wang
Wassarman
Xiao
Xu
Yan
Yang
Yu
Zhang
Publication venue
'Oxford University Press (OUP)'
Publication date
Field of study
No full text
Crossref