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5 research outputs found
Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering
Author
Abecasis
Altshuler
+36 more
Azizieh
Bentley
Cheung
Chidi Ahaghotu
Chowdhury
Collins
Cornelius F. Boerkoel
Cottingham
David R. Adams
Donahue
Fledel-Alon
Frazer
Gudbjartsson
Hannah Carlson-Donohoe
Jiang
Kong
Kruglyak
Lange
Li
MaryPat Jones
Meyers
NISC Comparative Sequencing Program
O'Connell
Ott
Riordan
Roach
Roach
Settara Chandrasekharappa
Smith
St Hilaire
Tan
Ted Han
Thomas C. Markello
Ursula Harper
William A. Gahl
Yair Anikster
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Ribosomal protein gene deletions in Diamond-Blackfan anemia
Author
Adrianna Vlachos
Alkan
+46 more
Boria
Campagnoli
Chatr-Aryamontri
Cmejla
Conlin
David M. Bodine
de Smith
Devlin
Doherty
Draptchinskaia
Eva Atsidaftos
Farrar
Farrar
Flygare
Gazda
Gazda
Gazda
Gazda
Gazda
Gregory
Gunderson
Gustavsson
Hannah Carlson-Donohoe
Iafrate
Jason E. Farrar
Jeffrey M. Lipton
Konno
Kuramitsu
Lipton
Locke
McGowan
O'Donohue
Quarello
Robert J. Arceci
Robledo
Sharp
Song
Steven R. Ellis
Thomas C. Markello
Vlachos
Vlachos
Wagenstaller
Wang
Wat
Willig
Zhang
Publication venue
'American Society of Hematology'
Publication date
Field of study
No full text
Crossref
Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia
Author
Andrew R. Cullinane
Anikster
+50 more
Bentley
Boissy
Bonilla
Boztug
Boztug
Carla Ciccone
Cheung
Costin
Dawn M. Maynard
Dell'Angelica
Devriendt
Gnirke
Gronskov
Halaban
Hannah Carlson-Donohoe
Horwitz
Huizing
James A. Curry
Johnston
Kevin O'Brien
King
Klein
Lei
Li
Livak
Marjan Huizing
Martin
Meral Gunay-Aygun
Morgan
Newton
Ng
Ng
NISC Comparative Sequencing Program
Oh
Otto
Person
Petrolonis
Pigault
Rinchik
Rundshagen
Suzuki
Teer
Teer
Thierry Vilboux
Thomas C. Markello
Tomita
Toyofuku
Welte
William A. Gahl
Zhang
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
Author
A Gnirke
A Gusev
+49 more
A. Marchler-Bauer
Andrea Gropman
Anne Madeo
C Brenner
C St Hilaire
C Zweier
Camilo Toro
Catherine Groden
CM De Praeter
Colleen Wahl
Cornelius F. Boerkoel
Cynthia J. Tifft
D Di Bella
David A. Ferrick
David Adams
Dennis M.D. Landis
DR Bentley
F Bonn
F Brugman
Fred Gill
Gretchen Golas
Hannah Carlson-Donohoe
I Manoli
James C. Mullikin
JE Wampler
JJ Johnston
JK Teer
K Grohmann
K Wang
Karin Fuentes Fajardo
Lynne Wolfe
Michele Nehrebecky
Murat Sincan
N Siva
NE Hellman
QS Padiath
Rena Godfrey
RR Allingham
S Millecamps
Sandra Yang
SP Colgan
ST de Bot
ST Sherry
Thomas C. Markello
TM Pierson
Tyler Mark Pierson
W Bi
WA Gahl
William A. Gahl
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref