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8 research outputs found

Reply to E. Vicente et al.

Author: ATG Chiu
CE Walker
G Gatta
M Mazzucato
S Nguengang Wakap
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

Regarding the estimations of people affected by rare diseases

Author: E Vicente
G Calleri
M Haendel
M Mazzucato
N Boyd
S Nguengang Wakap
T Richter
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

Diagnostic utility of whole-genome sequencing for nephronophthisis

Author: A Anna
C Di Resta
C Di Resta
DA Braun
DA Braun
DR Adams
F Hildebrandt
F Luo
H Olbrich
K Tory
MF Stokman
R Vaz-Drago
S Nguengang Wakap
S Richards
SC Sanderson
YJ Choi
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

A call to arms against ultra-rare diseases

Author: A Jo
A Margolis
AT Vessoni
BT Wilson
EO Lillie
K Copley-Merriman
N Duan
RL Kravitz
S Nguengang Wakap
ST Crooke
ST Crooke
ST Crooke
ST Crooke
ST Crooke
ST Crooke
ST Crooke
T Richter
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

GenomeDiver: a platform for phenotype-guided medical genomic diagnosis

Author: CA Deisseroth
CCY Chung
D Schofield
D Smedley
D Trujillano
H Hu
HL Rehm
JA Odgis
JM Zook
K Splinter
K Wang
LM Amendola
PN Robinson
R Thompson
RJ Pengelly
S Köhler
S Nguengang Wakap
T Brown
T Groza
T-C Hsieh
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

Incidence and natural history of isolated abdominal aortic dissection: A population-based assessment from 1995 to 2015

Author: Ahmed
Becquemin
Beigi
Clouse
DeMartino
Farber
Faries
Gustavo S. Oderich
Holper
Huynh
Indrani Sen
Jill Colglazier
Jonker
Kang
Kouvelos
Lawrence
Liu
López-Bastida
Manju Kalra
Mario D'Oria
Mozes
Nguengang Wakap
Randall R. DeMartino
Salome Weiss
Shu
Thomas C. Bower
Trimarchi
Wang
Weiss
Wu
Zhou
Publication venue: 'Elsevier BV'
Publication date
Field of study

Demographics, in-hospital analysis, and prevalence of 33 rare diseases with effective treatment in Shanghai

Author: A Coppola
A Janecka
A Mehta
AE Roberts
AL Firth
B Wolf
C Schey
CA Stanley
D Buchbinder
DD De Leon
DL Nelson
DP Merke
E Martin
EH Schuchman
G Binder
H Ozen
HA Cheema
HI Woo
I Melnikova
J Donadieu
J Gao
J He
JD Fine
JM Lipton
L Luzzatto
L Pena
M Bitzan
M Noris
MA Angulo
MD Tischkowitz
MT Vanier
P Goel
P Song
PA Russo
PL Magoulas
PR Blackburn
RA Williams
S Dharssi
S Gong
S Kolker
S Nguengang Wakap
S Simon
WB Dobyns
X Cai
X Zhou
XX Xin
Y Cui
Y Cui
YA Zarate
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

Author: Alex D. Brown
Antonarakis
Ashley Farlow
Azure Hermes
Bastien Llamas
Baynam
Baynam
Baynam
Bentley
Bentley
Boe Rambaldini
Bonadia
Boycott
Brendan J. McMorran
Carola G. Vinuesa
Carr
Cecchi
Chen
Clarkson
Claussnitzer
Claw
Cliff J. Meldrum
Cooper
Dawkins
Delatycki
Devashi Paliwal
Fridman
Gareth Baynam
Glenn Pearson
Graham J. Mann
Greg R. Pratt
Gregg
Gregg
Grody
Guo
Gurdasani
Gwynne
Haendel
Hardip R. Patel
Harper
Holsinger
Hudson
Hugh J.S. Dawkins
Jack S. Nunn
John C. Skinner
Karczewski
Kennedy
Khoury
King
Kraft
Kwon
Kylie G. Gwynne
Lew
Lyndon Ormond-Parker
Lynette W. Russell
Mallick
Manrai
Marcel E. Dinger
Martin
Mastantuoni
Matthew C. Cook
Matthew Silcocks
McGonigle
Megan Davis
Michael S. Dobbie
Misty R. Jenkins
Ndugga-Kabuye
Neil J. Orr
Nguengang Wakap
Panaretto
Peiris
Pratt
Ravi Savarirayan
Rebekah E. McWhirter
Renzo F. Balboa
Richards
Rowe
Ruth M. Arkell
Saul J. Newman
Schrijver
Shayne A. Bellingham
Shivashankar H. Nagaraj
Simon Easteal
Simon H. Jiang
Sirugo
Sivasubbu
Stephen Leslie
Stevens
Sun
Tom Calma
van der Hout
van der Hout
Walsh
Warren Kaplan
Wendy E. Hoy
Wright
Yap
Yassine Souilmi
Zheng
Publication venue: 'Elsevier BV'
Publication date
Field of study

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