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5 research outputs found
Concerning “Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes” by Farwell Gonzalez et al.
Author
Farwell Gonzalez KD
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1
Author
Colombatti A
Farwell Gonzalez KD
+5Â more
Gibson MA
Kielty CM
Racchi M
Sakai LY
The International HapMap Project
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration
Author
A Iglesias
A Inoue
+31Â more
A Mourao
Alexa Hart
Carolyn Jones
CL Alamillo
CL Beaulieu
Directors ABo
EA Worthey
Erika Palmaer
H Laduca
HL Rehm
I Callebaut
Igor Petrik
International HapMap C
JJ Johnston
JW Yang
K Ye
KD Farwell
KD Farwell Gonzalez
KJHS Carss
KW Gripp
LE Westerfield
MN Bainbridge
RJ Butterfield
RJ Gorlin
S Bonnal
S Soden
Sara Cherny
Sha Tang
SK Gandomi
Y Yang
Zöe Powis
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Author
A McTague
A Suls
+59Â more
Abraam M. Yakoub
AJ Tanaka
AP Spicer
AS Hyde
BJ Sommer
BM Zimmer
C Dong
CK Bauer
DEV Pires
DY Stainier
E Flex
E. Morava
EC Walsh
FO Desmet
G Grady
H Li
HH Freeze
IE Scheffer
J Muenzer
J Reumers
J Tian
J Zhang
K Neveling
K Nishimura
KA Jagadeesh
KD Farwell
KS Pollard
M Gonzalez
M Kircher
M Lek
MA Lancaster
MJ GarcĂa-GarcĂa
MS Reuter
N Guex
N Sobreira
P Cingolani
PH Chia
Q Li
RN Wilkinson
S Appenzeller
S Egger
S Egger
S Egger
S Soleman
S Superina
SC Baraban
SM Chambers
SP Choksi
Stefano Volpi
T Bonifert
T Torisawa
U Hacker
Venkatachalam Rajakannan
W Driever
X Lin
X Wu
X Xu
X Xu
Xiaoming Liu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Molecular diagnostic experience of whole-exome sequencing in adult patients
Author
A Iglesias
A Rauch
+61Â more
ACMG Board of Directors
Arthur L. Beaudet
C DiVincenzo
C Li
CE Prada
CF Wright
Chad A. Shaw
Christine M. Eng
CS Bennette
CS Richards
CT Caskey
DA Wheeler
Donna Muzny
DR Williams
EA Worthey
Eric Boerwinkle
Fan Xia
FT Collison
G Beffagna
H Lee
J de Ligt
J Jurgens
James R. Lupski
Jennifer E. Posey
Jill A. Rosenfeld
JM Statland
JR Lupski
JR Lupski
KD Farwell
LM Amendola
LM Boyden
MA DePristo
Magdalena Walkiewicz
Matthew Bainbridge
MF Wangler
ML Gonzalez-Garay
MN Bainbridge
MN Bainbridge
MN Bainbridge
RC Green
RC Green
Regis A. James
Richard A. Gibbs
Richard E. Person
S Köhler
S Levy
S Richards
Sharon E. Plon
Shweta Dhar
SJ Gross
TJ Albert
TN Eble
Tomasz Gambin
V. Reid Sutton
Wojciech Wiszniewski
Xia Wang
Y Yang
Y Yang
Yaping Yang
Zeynep H. C. Akdemir
Zhiyv Niu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref