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Human Mutation
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top-authors
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most-cited
Human Mutation
3.5
(top 10%)
impact factor
6.9K
(top 5%)
papers
288.4K
(top 2%)
citations
193
(top 2%)
h
-index
3.6
(top 10%)
extended IF
7.6K
all documents
306.4K
doc citations
293
(top 2%)
g
-index
Top Authors (by article citations)
#
Author
Articles
Citations
R ARank
R CRank
1
Anne H O'donnell-Luria
4
228
1
1
1
Moriel H Singer-Berk
1
184
1
1
1
Sanna Gudmundsson
1
184
1
1
1
Matthew Solomonson
2
215
1
2
1
Daniel G Macarthur
2
215
1
1
1
Heidi L Rehm
5
253
2
1
1
Julia K Goodrich
1
184
1
1
1
William Phu
2
215
1
1
9
Karobi Moitra
1
45
1
1
9
Rando Allikmets
1
45
1
1
9
Michael C Dean
1
45
1
2
12
Emily O'Heir
1
31
2
1
12
Ben Weisburd
1
31
1
1
12
Gabrielle T Lemire
1
31
2
1
12
Stephanie L Parker; Stephanie P Ditroia
2
36
1
1
12
Grace E Vannoy
2
36
1
1
12
Lynn Pais
2
39
1
1
12
Lawrence J Babb
1
31
1
4
12
Katherine R Chao
1
31
1
2
20
Fiona Cunningham
2
40
1
2
20
Anja Thormann
1
30
2
2
20
Helen Schuilenburg
1
30
1
2
20
Benjamin Moore
1
30
2
2
20
Irina M Armean
1
30
1
2
20
Paul Flicek
1
30
4
5
20
Fiona Cunningham
2
40
1
4
20
Sarah E Hunt
2
40
2
2
20
Andrew D Yates
1
30
2
2
20
Emily Pritchard
1
30
2
2
30
Omar M Albagha
1
29
1
1
30
Dima Darwish
1
29
1
1
30
Chadi Saad
1
29
1
1
30
Karsten Suhre
1
29
4
3
30
Senthil Selvaraj
1
29
1
1
30
Hamdi Mbarek
1
29
2
3
30
Waleed H Omer
1
29
1
1
30
Yasser A Al-Sarraj
1
29
2
1
30
Khalid A Fakhro
1
29
2
1
30
Ikhlak Ahmed
1
29
1
1
30
Said I Ismail
1
29
2
1
30
Heba Yasin
1
29
1
1
30
Rozaimi Razali
1
29
1
1
30
Younes Mokrab
1
29
1
2
30
Wadha
1
29
2
1
30
Ramin Badii
1
29
2
1
30
Tasnim Fadl
1
29
1
1
48
Bin Alwi Zilfalil
1
20
1
1
48
Erik-jan Kamsteeg
1
20
1
1
48
Celeste Sm Bento
1
20
1
1
48
Kyriaki Michailidou
1
20
2
3
48
Rolph Pfundt
1
20
2
2
48
Bin Hashim Halim-Fikri
1
20
1
1
48
Jan Traeger-Synodinos
1
20
1
1
48
Xi Luo
1
20
1
3
48
Coralea Stephanou
1
20
1
1
48
Eirini Fylaktou
1
20
1
1
48
Cornelis L Harteveld
1
20
1
1
48
Landry E Nfonsam
1
20
1
1
48
Erin R Riggs
1
20
2
3
48
Courtney L Thaxton
1
20
1
1
48
John S Waye
1
20
1
1
48
Sanne P Smeekens
1
20
1
2
48
Marina Kleanthous
1
20
1
1
48
Christian Gilissen
1
20
3
4
48
Jordi Corominas Galbany
1
20
1
2
48
Petros Kountouris
1
20
1
1
48
Carsten W Lederer
1
20
1
1
70
Bao Jian Fan
1
19
1
1
70
Janey L Wiggs
1
19
3
3
72
Luana Licata
1
18
1
2
72
Angel Alonso
1
18
1
1
72
Pedro Lopes
1
18
1
1
72
Yves Sabbagh
1
18
2
1
72
Lucia Monaco
1
18
1
1
72
Ivo Glynne Gut
1
18
1
1
72
Raul Tonda
1
18
1
2
72
Ida Paramonov
1
18
1
1
72
Jordi Camps-Puchades
1
18
1
1
72
Jordi Rambla de Argila
2
28
1
2
72
Jean-Remi P Trotta
1
18
1
2
72
Peter Nick Robinson
2
35
1
2
72
Rajaram Kaliyaperumal
1
18
2
2
72
Luis A Perez-Jurado
1
18
1
1
72
Sergi Beltran
1
18
1
3
72
Julius O B Jacobsen
2
35
1
2
72
J Dylan Spalding
1
18
1
1
72
José María Fernández
1
18
1
2
72
Damian Smedley
2
35
1
2
72
David Salgado
1
18
1
1
72
Rachel Thompson
1
18
1
1
72
Erik A Imel
1
18
2
2
72
Irina T Zaharieva
2
26
1
1
72
Carles Hernandez-Ferrer
1
18
1
2
72
Manuel Posada
1
18
2
2
72
Orion J Buske
2
22
1
2
72
Ana Töpf
1
18
1
2
72
Rita Horvath
2
21
2
2
72
Marcos Fernandez-Callejo
1
18
1
1
72
Alberto Corvo'
1
18
1
1
72
Leslie Matalonga
1
18
1
1
72
Michael J Econs
1
18
1
1
72
Thomas O Carpenter
1
18
1
2
72
Britt Johnson
1
18
1
1
72
Marcella Attimonelli
1
18
1
1
72
Hanns Lochmüller
1
18
3
3
72
Christophe Beroud
1
18
1
2
72
Estrella Lopez
1
18
1
1
72
Steven Laurie
1
18
1
1
72
Deborah Mascalzoni
1
18
1
1
72
Ana Rath
1
18
1
1
72
Peter A 't Hoen
1
18
1
1
72
Holm Graessner
1
18
3
4
72
Davide Piscia
1
18
1
1
72
Kariena Dill
1
18
1
1
72
Anastasios Papakonstantinou
1
18
1
1
126
Brage Storstein Andresen
2
28
1
1
126
Valentina Cipriani
1
17
1
1
126
Justin Reese
1
17
1
1
126
Thomas K Doktor
2
28
1
1
126
Christopher J Mungall
1
17
1
7
126
Daniel Danis
1
17
1
2
132
Kevin M Flanigan
1
16
1
2
132
Benjamin W Darbro
1
16
1
1
132
Megan A Waldrop
1
16
1
1
132
John W Day
1
16
2
2
132
Bjarne Udd
1
16
1
1
132
Steven A Moore
1
16
1
1
132
Manu Jokela
1
16
1
1
132
Russell J Butterfield
1
16
2
3
132
Anne M Connolly
1
16
1
4
132
Richard S Finkel
2
23
1
6
132
Nicolas Wein
1
16
1
1
143
Jane E Churpek
1
15
1
2
143
Daniela del Gaudio
1
15
1
1
143
Lucy A Godley
1
15
1
1
146
Yiping Shen
1
12
1
1
146
Huifang Yan
1
12
1
1
146
Haiyan Wei
1
12
1
1
146
Marc Ferré
1
12
1
1
146
Yu Sun
2
14
1
1
146
Kun Sun
1
12
1
1
146
Xiantao Ye
1
12
1
1
146
Sophie Saunier
1
12
1
2
146
Tania Attie-Bitach
1
12
1
3
146
Laurence Heidet
1
12
1
1
146
Xianda Wei
1
12
1
4
146
cecile Jeanpierre
1
12
1
1
146
Bing Xiao
2
14
1
2
146
Yongguo Yu
2
14
1
2
146
Shixiu Liao
1
12
1
1
146
Zhixin Zhang
1
12
2
1
146
Yinggdi Liu
1
12
1
2
146
Johan T Den Dunnen
1
12
1
2
146
Dan Milea
1
12
2
2
146
Jing Peng
1
12
2
1
146
Wenjuan Qiu
2
14
1
2
146
Huiwen Zhang
2
14
1
1
146
Desheng Liang
1
12
1
4
146
Nan Pang
1
12
1
1
146
Pascal Reynier
1
12
3
2
146
Guy Lenaers
1
12
1
1
172
Andreas Halman
1
11
1
1
172
Xiao-Jin He
1
11
3
6
172
Virginie J M Verhoeven
1
11
2
3
172
Anneke Ja Kievit
1
11
1
1
172
Alicia Oshlack
1
11
2
4
172
James R Lupski
3
19
2
5
172
Zeynep Coban Akdemir
2
19
1
2
172
Huan Wu
1
11
2
5
172
Annechien Eg Haarman
1
11
1
1
172
Jessica X Chong
1
11
1
2
172
Ada Hamosh
3
29
1
3
172
Caroline C W Klaver
1
11
3
6
172
Danielle R Azzariti
1
11
1
1
172
Egor Dolzhenko
1
11
1
2
172
Alberta A H J Thiadens
1
11
1
2
172
Nara Lygia Sobreira
2
18
1
3
172
Victor Guryev
1
11
1
2
172
Jan Roelof Polling
1
11
1
3
172
David Valle
2
18
1
2
172
Shalini N Jhangiani
2
19
2
3
172
Renan P Martin
2
18
1
1
172
Bing Song
1
11
1
2
172
Yang Gao
1
11
2
3
172
Michael J Bamshad
1
11
3
3
172
Sjoukje E Loudon
1
11
1
2
172
Kym Boycott
4
29
1
2
172
Jennifer E Posey
2
18
3
3
172
Stepanka Zverinova
1
11
1
2
172
Nara Sobreira
2
18
1
3
201
Alessandro Iannaccone
1
10
1
2
201
Chenghong Yin
1
10
2
4
201
Ingo Helbig
1
10
6
8
201
Anthony J Brookes
1
10
1
1
201
Juha Törnroos
1
10
1
1
201
Xiaohua Jin
1
10
1
1
201
Claudia Vasallo
1
10
1
2
201
Tim Beck
1
10
1
1
201
Yousheng Yan
1
10
1
1
201
Andrew P Bevan
1
10
1
1
201
Carel B Hoyng
1
10
6
8
201
Allison R Ayala
1
10
1
1
201
Michel Michaelides
1
10
4
5
201
David Lewis-Smith
1
10
1
2
201
Matthew E Hurles
1
10
2
3
201
Kari E Branham
2
18
1
2
201
Shiva Ganesan
1
10
1
2
201
Lauren A Fromont
1
10
1
2
201
Linlin Zhang
1
10
1
1
201
Mark E Pennesi
1
10
1
3
201
Peter D Galer
1
10
1
1
201
Helen V Firth
1
10
2
4
201
Gary Saunders
1
10
1
2
201
Babita Singh
1
10
1
2
201
Jacque L Duncan
1
10
1
1
201
Colin D Veal
1
10
1
1
201
Michael Baudis
1
10
1
2
201
Ehsan Ullah
1
10
2
1
201
Isabelle Audo
2
18
1
2
201
Carmen C Brewer
1
10
1
1
201
Wendi Liang
1
10
1
1
201
Rhys H Thomas
1
10
3
4
201
Arcadi Navarro
1
10
1
2
201
Michael C Kaufman
1
10
2
4
201
Robert B Hufnagel
1
10
3
2
201
Elise Heon
1
10
1
1
201
Manuel Rueda
1
10
1
2
201
Rahel Paloots
1
10
1
1
201
Julia Foreman
1
10
1
1
201
Roberto Ariosa Hernández
1
10
1
2
201
Simon Brent
1
10
1
1
201
Julie Xian
1
10
1
3
201
Daniel Perrett
1
10
1
1
244
Caterina caputi
1
9
1
2
244
Tobias B Haack
1
9
6
9
244
Dilek Colak
1
9
1
1
244
Maha M Alrasheed
1
9
1
4
244
Reza Maroofian
2
9
2
4
244
Aldhalaan Hesham
1
9
1
1
244
Eva Morava
1
9
2
5
244
Silvia Tardivo
1
9
1
1
244
Maha Zaki
1
9
3
3
244
Michael Brudno
2
13
1
3
244
Laura Masuelli
1
9
2
6
244
Marjo S Van Der Knaap
1
9
1
4
244
Namik Kaya
1
9
1
1
244
Yılmaz Yıldız
1
9
1
1
244
Enrico Bertini
2
9
2
9
244
Gessica Vasco
1
9
1
1
244
Alessia Micalizzi
1
9
1
2
244
Timo Lassmann
1
9
1
1
244
Mehran Beiraghi Toosi
1
9
1
1
244
Enza Maria Valente
1
9
3
8
244
Vincenzo Leuzzi
1
9
2
6
244
Joseph G Gleeson
1
9
2
5
244
Roberta De Mori
1
9
1
1
244
Taila Hartley
2
13
1
2
244
Saskia B Wortmann
1
9
1
5
244
Donatella Farini
1
9
1
1
244
Antonia Ribes Rubio
1
9
1
2
244
Ranad Shaheen
1
9
1
2
244
Monia Ginevrino
1
9
1
2
244
Henry Houlden
1
9
6
11
244
Mahmoud Y Issa
1
9
1
1
244
Giulia Federici
1
9
1
1
244
Valentina Baglioni
1
9
1
1
244
Matteo P Ferla
1
9
1
4
244
Pasquale Striano
2
15
6
12
244
Ginevra Zanni
1
9
1
2
244
Angela Pistorio
1
9
1
2
244
Annapurna H Poduri
1
9
4
5
244
Jariya Upadia
1
9
1
1
244
Arun K Ramani
3
19
1
1
244
Javad Akhondian
1
9
1
1
244
Lorena Travaglini
1
9
1
1
244
Manuela Tolve
1
9
1
1
244
Denise Anderson
1
9
1
2
244
Tahsin Stefan Barakat
1
9
1
2
244
Matthew A Lines
1
9
1
1
244
Sara Nuovo
1
9
2
2
244
Rauan Kaiyrzhanov
1
9
1
3
244
Marcello Scala
2
15
1
1
244
Beth R Sheidley
1
9
1
4
244
Holger Prokisch
2
17
1
6
244
Carla Carducci
1
9
1
1
244
Frederic Tort
1
9
1
2
244
Claudio Sette
1
9
1
2
244
Cristina Skrypnyk
1
9
1
1
244
Fowzan S Alkuraya
1
9
5
5
244
Parul Jayakar
1
9
1
1
244
Hessa S Alsaif
1
9
1
2
244
Stephanie Efthymiou
1
9
2
1
244
Jenny C Taylor
1
9
1
9
244
Antonella Casella
1
9
2
2
244
Matthew Osmond
2
13
1
2
244
Brittney Johnstone
1
9
1
1
244
Elisa Lorefice
1
9
1
1
308
Ulrich Kellner
1
8
1
1
308
Sandrine M Caputo
1
8
1
3
308
Nobuhiko Okamoto
3
15
1
2
308
Herbert Jägle
1
8
1
1
308
Pierre Bitoun
1
8
1
1
308
Peggy Reuter
1
8
1
1
308
Andreas Janecke
3
11
1
2
308
Ditta Zobor
1
8
1
1
308
Linyan Meng
1
8
2
2
308
Virginie Verkarre
1
8
1
5
308
Daniel Natera-de Benito
1
8
1
1
308
Petra Liskova
1
8
1
1
308
Nelly Burnichon
1
8
1
1
308
Roberto Giorda
1
8
1
2
308
Elizabeth C Engle
1
8
1
2
308
Julia Meade
1
8
1
1
308
Eleanor Hay
1
8
1
2
308
Irina Golovleva
1
8
1
2
308
Franco Stanzial
1
8
1
1
308
Paulo A Otto
1
8
1
1
308
Bernd Wissinger
1
8
2
4
308
Haowei Du
2
8
2
5
308
Stephen H Tsang
1
8
1
4
308
Rahul Phadke
1
8
1
3
308
Evren Gumus
1
8
1
2
308
Ghassan Balousha
1
8
1
1
308
Sylvie Jaillard
2
15
1
2
308
Huda Y Zoghbi
1
8
1
3
308
Katharina Wimmer
1
8
1
1
308
Richard A Gibbs
2
15
2
10
308
Chong Ae Kim
2
8
2
2
308
Cláudia M B Carvalho
1
8
1
3
308
Hans Van Bokhoven
1
8
1
6
308
Alper Gezdirici
1
8
1
1
308
Paul A Sieving
1
8
1
3
308
Donna M Muzny
1
8
3
4
308
Fatemeh Peymani
1
8
1
2
308
Matthias Schmuth
1
8
1
1
308
Fernanda Porto
1
8
1
1
308
David G Hunter
1
8
4
3
308
David H Spencer
1
8
2
7
308
Richard Gallon
1
8
1
1
308
Dominique Stoppa-Lyonnet
1
8
2
4
308
Elfride De Baere
1
8
1
4
308
Jeffrey L. Neul
1
8
1
4
308
Angad Jolly
1
8
1
3
308
Janson J White
1
8
1
2
308
Alison Yeung
1
8
2
3
308
Mohammed Falana
1
8
1
1
308
Thierry Bienvenu
1
8
1
1
308
Juliana f mazzeu
2
8
1
2
308
Étienne Rouleau
1
8
2
1
308
Beatrice Bocquet
1
8
1
1
308
Elena Jane Tucker
1
8
1
3
308
Susanne Kohl
1
8
3
6
308
Vernon Reid Sutton
2
8
1
4
308
David G Birch
1
8
2
2
308
David Tulasne
1
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Katie L Ayers
1
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1
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2
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1
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2
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2
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Carmen Ayuso
1
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Delphine Blain
1
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1
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1
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1
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1
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Stéphane Richard
1
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1
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Richard G Weleber
1
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Thomas Rosenberg
1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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2
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308
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1
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1
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308
Eleni Papageorgiou
1
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2
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Samuel G Jacobson
1
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1
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1
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1
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2
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308
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1
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1
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308
Isabelle Meunier
1
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1
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308
Antoine De Pauw
1
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1
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1
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1
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André Márcio Vieira Messias
1
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1
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1
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1
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308
Molka Sebai
1
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1
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1
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1
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308
Dmitrii Smirnov
1
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1
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1
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1
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1
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1
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Molly C Schroeder
1
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Olga Østrup
1
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1
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2
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1
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5
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1
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Elizabeth S Wohler
1
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1
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1
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1
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1
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1
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Anne M Comi
1
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1
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1
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1
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1
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1
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2
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1
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2
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1
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1
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1
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11
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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2
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2
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1
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1
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1
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1
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1
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2
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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2
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1
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1
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1
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1
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2
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1
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1
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1
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1
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1
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1
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408
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1
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1
1
408
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1
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1
2
479
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1
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1
1
479
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1
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1
2
479
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1
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1
1
479
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1
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1
1
479
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1
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1
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479
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1
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1
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479
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1
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2
6
479
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1
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1
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1
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1
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1
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4
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1
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2
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1
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1
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1
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3
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1
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1
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1
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1
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1
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2
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1
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479
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1
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1
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1
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1
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1
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4
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1
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1
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479
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1
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1
1
479
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1
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3
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479
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1
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1
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479
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1
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1
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479
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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2
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1
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1
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2
3
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1
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1
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1
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1
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1
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3
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1
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1
2
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1
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1
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2
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1
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1
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1
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1
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1
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1
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1
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1
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1
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2
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
9
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1
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1
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1
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1
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1
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3
3
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1
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1
1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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1
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2
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1
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1
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1
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1
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1
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1
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1
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1
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2
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1
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1
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1
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1
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1
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1
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1
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1
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1
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2
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1
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1
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1
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1
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1
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1
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574
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2
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1
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574
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1
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1
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574
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1
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10
574
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1
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2
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574
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2
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16
574
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1
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1
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574
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1
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2
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574
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1
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1
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1
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3
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2
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1
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1
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1
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1
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1
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Seth A Brodie
1
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1
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1
3
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Maria Pettersson
1
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1
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1
2
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Steven X Chen
1
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1
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3
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1
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1
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1
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1
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Meredith Yeager
1
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Erin Thorpe
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1
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Alison Coffey
1
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Julie P Taylor
1
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1
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762
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1
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1
12
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1
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2
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1
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1
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1
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1
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1
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Chao-Kai Hsu
1
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2
10
843
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1
0
1
4
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