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Human Mutation
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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
Peter J Oefner
2
744
2
1
1
Wenzhong Xiao
1
674
1
1
3
John Moult
1
649
2
1
4
Hope Northrup
1
292
1
1
4
David G Birch
2
303
1
2
4
Richard A Lewis
1
292
1
1
4
Helen Mintz-Hittner
1
292
1
1
8
Glenn E Green
1
267
1
1
8
Val C Sheffield
1
267
3
2
8
Colleen A Campbell
1
267
1
1
8
Richard J H Smith
2
278
3
3
12
Hans R Waterham
1
261
2
2
12
Ronald J A Wanders
1
261
2
1
12
Garry R Cutting
1
261
1
2
12
Aurora Pujol
1
261
1
1
12
Stephan Kemp
1
261
1
1
17
Nancy B Spinner
2
300
1
1
18
Paolo Marchetti
1
215
1
1
18
Enrico Ricevuto
1
215
1
1
18
Paolo Radice
1
215
1
1
18
Gianni Cuda
1
215
1
1
18
Francesco S Costanzo
1
215
1
1
18
Pierfrancesco Tassone
1
215
1
1
18
Francesco Baudi
1
215
1
1
18
Alessandra Viel
2
232
1
2
26
Maria João Saraiva
1
200
2
3
27
Brage Storstein Andresen
2
191
1
2
27
Peter Bross
1
178
1
2
27
Thomas J Corydon
2
191
1
1
30
Jutta Gärtner
1
175
2
1
31
Antonio Rossi
1
173
1
1
31
Andrea Superti-Furga
1
173
1
4
33
Herve Avet-Loiseau
1
168
1
1
33
Denis Puthier
1
168
1
1
33
Erwan Pennarun
1
168
1
1
33
stéphane Bézieau
1
168
1
1
37
Edward Tuddenham
1
159
1
2
37
Geoffrey Kemball-Cook
1
159
1
1
37
John H Mcvey
1
159
2
1
40
Olga Beltcheva
1
156
1
1
41
Gouri Yogalingam
1
153
1
1
41
Timothy Barrett
2
161
1
1
41
Farhat Khanim
2
161
1
1
44
Jaroslav A Hubacek
1
149
2
3
44
Helen H Hobbs
1
149
1
2
46
J David Taylor
1
140
1
2
47
Eric Boerwinkle
1
137
1
1
47
Peter A Doris
1
137
1
1
49
Pärt Peterson
2
198
1
1
49
Stylianos Antonarakis
2
200
2
4
49
Hamish S Scott
2
200
1
2
52
Orland Diez
1
103
1
1
52
Carles Pericay
1
103
1
1
52
Ana Vega
1
103
1
1
52
Angel Carracedo
2
127
3
3
56
Genevieve de Saint Basile
2
128
1
1
56
Luigi Daniele Notarangelo
2
128
1
5
56
Mauno Vihinen
1
100
1
3
59
Carlo Rivolta
2
131
1
1
59
Valeria Tiranti
2
93
1
3
59
Massimo Zeviani
1
91
3
5
62
Kathleen A Hill
1
88
1
1
63
Edward H Schuchman
1
76
3
4
63
Ian D Krantz
1
76
2
2
63
Konrad Sandhoff
1
76
2
3
63
Torsten F Schwede
1
76
1
1
63
David A Piccoli
1
76
1
2
68
Lloyd D Fricker
1
75
2
2
68
Stefania Bortoluzzi
2
100
1
2
68
Benjamin Glaser
1
75
2
2
71
Doron Lancet
1
74
1
4
71
Tadej Battelino
1
74
1
1
71
Jan Lebl
1
74
3
2
71
Daniela Cihakova
1
74
1
1
75
Barry Wolf
1
72
1
1
76
Geoff K Chambers
1
70
1
4
76
Giuseppe Passarino
1
70
1
2
76
Generoso Andria
1
70
1
1
79
Bruce Rannala
1
67
1
3
80
Kwang-Jen Hsiao
1
61
1
1
80
Susan Treves
1
61
1
2
80
Francesco Zorzato
1
61
1
1
80
Martin Hergersberg
1
61
2
3
80
Alessandra Baumer
1
61
1
2
85
Gianluca Tell
1
60
1
2
85
Giuseppe Novelli
1
60
3
4
85
Juha Kere
2
89
2
5
85
Giuseppe Damante
1
60
2
3
89
Sylvie Langlois
1
58
1
1
90
Javier Alonso
2
59
1
1
90
Diana Blaydon
1
55
1
1
92
Gabriele Siciliano
1
54
1
2
92
Luciano Merlini
1
54
1
5
92
Franco Taroni
1
54
1
2
92
Astrid Dempfle
1
54
1
1
92
Heike Bickeböller
1
54
1
1
92
Matthias Wjst
1
54
3
2
92
André Reis
1
54
4
7
92
Silvia Baratta
1
54
1
1
92
Micaela Milani
1
54
1
1
92
H-Erich Wichmann
1
54
1
4
102
Jeremy P Cheadle
1
53
1
1
102
Julian R Sampson
1
53
1
1
102
Isabel Karen Temple
2
92
1
1
102
Geoffrey N Hendy
1
53
3
3
102
Lilia D'Souza-Li
1
53
1
1
107
Jeremy Nathans
1
52
2
6
107
Steven J Pittler
1
52
1
1
107
Samuel G Jacobson
1
52
2
5
110
Filippo M Santorelli
2
78
2
3
110
Alessandra Tessa
1
51
1
3
110
Claudio Bruno
1
51
1
2
113
Constantinos Deltas
1
49
1
1
114
Lee-Jun C Wong
1
48
2
2
115
Luca Frulloni
1
47
2
2
115
Macarena Gomez Lira
1
47
1
1
117
Anil K Lalwani
1
46
2
4
118
Muralitharan Shanmugakonar
1
45
1
1
118
Marco Cicardi
1
45
1
3
120
Mirella Filocamo
1
43
1
1
120
Gloria Bonuccelli
1
43
1
1
120
Fabio Corsolini
1
43
1
1
123
Christine Petit
1
41
1
9
123
Stéphane Blanchard
1
41
1
2
126
Dominique Germain
2
52
1
2
126
Carmen Ayuso
2
79
1
2
128
Francesco Filippini
1
39
1
3
128
Felipe J Chaves
1
39
3
3
128
Francesca Simonelli
1
39
1
2
128
Julie S Sibbring
1
39
1
1
128
Francesco Testa
1
39
1
2
128
Massimo Mangino
1
39
1
1
128
Andrew Oliver Mungo Wilkie
1
39
1
3
128
Ivan Conte
1
39
1
1
128
Jill Clayton-Smith
1
39
1
2
128
Alfredo Ciccodicola
1
39
1
1
128
Oscar Puig
1
39
1
2
128
Maria Giuseppina Miano
1
39
1
1
128
Peter Lobel
1
39
2
3
128
Pablo Marin-Garcia
1
39
1
1
142
Gert Matthijs
1
38
1
5
142
Peter H Byers
1
38
1
5
142
Anna Jakubowska
4
97
1
1
142
Jörg Schmidtke
1
38
1
1
142
Jens M Hertz
1
38
1
2
142
Michael B Petersen
1
38
2
1
142
Tomasz Huzarski
2
59
1
1
149
Alessandra Ferlini
1
37
1
1
149
Roberto Gambari
1
37
1
5
149
Nicoletta Bianchi
1
37
1
4
149
Carlo Mischiati
1
37
1
4
149
Amalia Martínez Mir
1
37
1
1
149
Susanna Balcells
1
37
1
1
155
Alessandra Renieri
1
36
1
4
155
Pietro Rubegni
1
36
1
2
155
Sergio Mondillo
1
36
2
1
155
Ilaria Meloni
1
36
2
3
159
Andrew Collins
1
35
2
6
159
Fyodor Kondrashov
1
35
1
1
159
Pui-Yan Kwok
1
35
1
8
159
Igor B Rogozin
1
35
2
6
163
Robert A Hegele
1
32
2
7
164
Robert A Waterland
1
31
1
1
164
Randy L Jirtle
1
31
1
4
166
Alfredo Corell
1
30
2
2
166
Wlodzimierz J Krzyzosiak
2
47
1
1
166
Miguel Carasol
1
30
1
1
166
Andrzej Mackiewicz
1
30
3
2
170
Viktor Kožich
2
37
1
4
170
Tomas Freiberger
2
44
1
1
170
Bohumila Janosikova
1
29
1
2
170
Jitka Sokolová
1
29
1
2
174
Deborah L Stabley
1
28
1
1
174
Grace M Hobson
1
28
1
1
174
Lawrence Baum
1
28
1
1
174
Marios A Cariolou
1
28
1
1
174
Moses S Elisaf
1
28
2
4
174
Christelle Cauffiez
2
37
1
2
174
Wai-Man Chan
1
28
1
1
181
Enrico Bertini
1
27
2
7
181
Wilson A Silva
2
33
1
3
181
Gerd Schmitz
1
27
6
19
181
Miriam Zago
1
27
1
1
185
Lenka Dvořáková
1
26
1
1
185
Jiri Zeman
1
26
1
2
185
Gabriela Storkanova
1
26
1
1
185
Johannes Berger
1
26
1
3
185
Martin Hrebicek
1
26
1
3
185
Rafael De Cid
1
26
1
1
185
Nuria Lopez-Bigas
1
26
1
2
192
Paolo Gasparini
1
25
2
8
192
David G Cox
1
25
1
1
192
Federico Canzian
1
25
1
3
192
Marcella Vacca
1
25
1
2
192
Massimo Carella
1
25
1
2
192
Bruno Giometto
1
25
1
2
198
Lars Olson
1
24
2
3
198
Clara Ruiz-Ponte
1
24
1
2
198
Göran Larson
1
24
1
2
198
Per-Anders Jansson
1
24
2
2
202
Michael L Hunter
2
26
1
1
202
Michael Hunter
1
23
1
1
204
Paal S Andersen
1
21
3
7
204
Rodney J Scott
2
40
1
3
204
Janusz Jm Menkiszak
1
21
1
1
204
Tomasz Byrski
1
21
2
3
204
Jacek Gronwald
1
21
1
3
204
Jan A Lubiński
1
21
1
1
204
Michael Christiansen
1
21
3
12
211
Jeffrey R Gruen
1
20
1
2
211
Nicoletta Resta
1
20
1
3
211
Joel Gelernter
1
20
3
6
211
Alessandro Stella
1
20
1
2
215
Grzegorz Kurzawski
1
19
1
2
215
D Comas
1
19
2
4
215
Jurg Ott
1
19
1
5
215
Jaume Bertranpetit
1
19
3
5
219
Salvatore Pucciarelli
1
17
2
3
219
Anna Monica Rosaria Bianco
1
17
1
1
219
Rosario Liguori
1
17
1
1
219
Emanuela Lucci-Cordisco
1
17
1
2
219
Maurizio Genuardi
1
17
2
6
219
Anagnostis Argiriou
1
17
1
1
225
Bonald C Figueiredo
1
16
1
2
225
Daniel L Metzger
1
16
1
4
225
Ra Eeles
1
16
1
1
225
Kwame Anyane-Yeboa
1
16
1
1
225
Guy Van Vliet
1
16
1
1
230
Ilhan Tezcan
1
15
1
1
230
Hirokazu Kanegane
1
15
1
3
232
Alex V Levin
1
14
1
2
232
Kyuyoung Song
1
14
1
2
232
Elise Heon
1
14
1
3
235
Luc Michiels
1
11
1
1
235
Zahid Shah
1
11
1
1
235
Cecile Notarnicola
1
11
1
2
235
Tohru Takeuchi
1
11
1
2
235
Anand Swaroop
1
11
1
4
235
Daisuke Yamamoto
1
11
1
1
235
Frans P M Cremers
1
11
2
4
235
Marina Toompuu
1
11
1
1
235
Ricardo M Fujita
1
11
1
1
235
Raffaele Manna
1
11
1
3
235
Howard T Jacobs, Howy Jacobs
1
11
3
5
235
Cíntia Barros Santos-Rebouças
1
11
1
1
235
Takamasa Ueno
1
11
1
2
248
Trinidad Caldes
1
10
1
1
248
Javier Godino
1
10
1
1
248
Martin F Lavin
1
10
3
5
248
Gilbert Vassart
1
10
1
1
252
Anna Murray
1
9
1
1
252
Anthony S Weiss
1
9
2
4
252
Sarah Ennis
1
9
2
2
252
Jean-Marc Lo Guidice
1
9
1
5
252
Thomas A Morton
1
9
1
2
257
Niels Grarup
1
8
1
3
257
David M Demarini
1
8
2
4
257
Stefano Landi
1
8
1
1
257
Peter H Gæde
1
8
2
4
257
Oluf Borbye Pedersen
1
8
3
6
262
Kazuya Yamagata
1
7
1
2
262
Eva Machackova
1
7
1
1
262
Rikako Uenaka
1
7
1
1
262
Ja-Lok Ku
1
7
1
1
262
Lenka Foretova
1
7
1
2
262
David A Lomas
2
12
1
2
262
Brian J Morris
1
7
1
5
262
Adam V Benjafield
1
7
1
2
270
Yuval Yaron
1
6
2
2
270
Avi Orr-Urtreger
1
6
2
4
270
Shuan-Pei Lin
1
6
1
2
270
Yoram Nevo
1
6
1
2
274
Stefania Corti
1
5
2
4
274
Giacomo P Comi
1
5
2
10
274
Anna Członkowska
1
5
1
2
274
Locatelli Federica
1
5
1
1
274
Rachele Cagliani
1
5
1
4
279
Arif B Ekici
1
4
1
1
279
Paul J Goodfellow
1
4
1
5
279
Tom Kristensen
1
4
2
4
279
David E Cohn
1
4
1
5
279
Ursula Kassner
1
4
1
1
279
David M Mutch
1
4
1
2
279
Arseni Markoff
1
4
1
2
286
Adriana Alvarez-Rodríguez
1
3
1
1
286
Lisa A Schimmenti
1
3
1
1
286
Barbara Triggs-Raine
1
3
1
3
289
Jeanne Amiel
1
2
4
11
289
Jeffrey C Murray
1
2
2
4
289
Jamel Chelly
1
2
2
6
289
Jesús Prieto
1
2
4
12
289
Guillermo Antiñolo
1
2
2
4
289
Simon G Gregory
1
2
2
5
289
Karine Poirier
1
2
1
1
289
Sergio Recalde
1
2
1
1
289
Raquel Urtasun
1
2
1
1
289
Agustín Ruíz
1
2
2
3
289
Yoriko Watanabe
1
2
1
2
300
Ge Zhang
1
1
1
2
300
Angelique Mularoni
1
1
1
1
300
Orna P Tighe
1
1
1
2
300
David T Croke
1
1
1
3
305
Partha P Majumder
1
0
2
8
305
Vincent Timmerman
1
0
1
9
305
Jeanette Erdmann
1
0
2
3
305
Anna-Maria Barciszewska
1
0
1
0
305
Bidyut Roy
1
0
1
3
305
Nilabja Sikdar
1
0
1
0
305
Peter De Jonghe
1
0
2
6
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