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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
Philip M Hopkins
1
444
1
1
2
Nicholas W Morrell
2
564
1
1
2
Oliver Eickelberg
1
368
2
1
2
Rajiv D Machado
1
368
1
1
2
Olivier Sitbon
1
368
1
2
2
Anna Fijalkowska
1
368
2
1
2
Horst Olschewski
1
368
4
2
2
Micheala A Aldred
2
564
1
1
2
Marc Humbert
2
564
2
2
2
Werner Seeger
1
368
8
1
2
Florent Soubrier
1
368
1
1
2
Adam Torbicki
1
368
1
1
2
Grzegorz Szewczyk
1
368
1
1
2
Nazzareno Galie
2
564
1
2
2
Gérald Simonneau
2
564
2
3
2
Bart Janssen
1
368
1
1
17
Sikandar G Khan
1
365
1
1
17
Kenneth H Kraemer
1
365
2
1
20
Jessie Theuns
1
306
2
2
20
Daniel Pirici
1
306
1
2
20
Samir Kumar-Singh
2
368
1
2
20
Marc Cruts
3
382
1
3
20
Christine Van Broeckhoven
5
485
1
3
25
Hans Christian Hennies
1
252
3
3
26
Uwe Wollina
1
198
2
1
26
Junko Oshima
1
198
1
1
26
Chih-Chao Yang
2
228
1
1
26
Emanuela Lucci-Cordisco
1
198
1
1
26
Elif Arioglu Oral
1
198
2
1
26
Markus Schuelke
1
198
1
2
26
George M Martin
1
198
1
1
33
Hiroki Morizono
1
184
1
1
34
Ping Liang
3
257
1
2
35
Mauno Vihinen
4
343
1
1
35
Smith Cie
1
176
1
1
37
Beat Thony
1
167
1
1
38
Fadi Bitar
1
166
1
1
38
Mona Nemer
1
166
1
1
38
Ghassan Dbaibo
1
166
1
1
38
Georges M Nemer
1
166
1
1
43
Chitra Kannabiran
1
163
1
1
44
Sian Ellard
2
262
1
3
45
Douglas C Wallace
1
152
1
2
46
Johan T Den Dunnen
1
145
2
4
46
Martijn Breuning
1
145
1
1
48
Takashi Shimokawa
1
144
2
1
48
Peter G Zaphiropoulos
1
144
1
1
50
Stefan Heinen
1
143
1
2
50
Santiago Rodriguez de Cordoba
2
199
1
2
50
Peter F Zipfel
2
222
1
1
50
Christine Skerka
1
143
1
2
50
Pilar Sánchez-Corral
1
143
1
1
50
Michael S Jackson
1
143
1
2
56
Xiaoping Miao
1
142
1
1
56
Xuemei Zhang
1
142
1
1
59
Ian M Carr
1
140
1
1
60
Claudia Spits
1
137
1
3
61
Aaron D Bossler
1
136
1
2
61
Arupa Ganguly
1
136
1
1
63
Thierry Soussi
2
132
1
2
63
Chikashi Ishioka
1
125
2
2
63
Dalil Hamroun
1
125
1
1
63
Christophe Beroud
1
125
1
2
67
Cristina Sobacchi
1
122
1
1
67
Veronica Marrella
1
122
1
1
67
Anna Villa
1
122
1
1
70
Richard Reinhardt
1
120
1
5
70
Jamel Chelly
1
120
2
6
70
Andreas Tzschach
1
120
3
2
70
Martine Raynaud
1
120
1
2
70
Hans-Hilger Ropers
1
120
3
3
75
Mirella Filocamo
2
153
1
1
75
Luciano Merlini
3
319
1
1
75
Emanuele Buratti
2
122
1
2
75
Massimiliano Rossi
1
115
1
1
79
Dominique Audenaert
2
177
1
1
79
Liesbet Deprez
1
114
1
1
79
Arvid Suls
1
114
1
1
79
Peter De Jonghe
2
177
1
4
83
Hans R Waterham
1
113
2
3
84
Nigel G Laing
1
112
2
2
84
Kati M Donner
1
112
1
1
84
Vilma-Lotta Lehtokari
1
112
1
1
84
Corrado Angelini
2
164
1
2
84
Caroline A Sewry
1
112
1
1
89
Miklos Sahin-Toth
1
110
2
2
90
Guy Van Camp
2
210
1
2
90
Per-Inge Carlsson
1
109
1
1
90
Dirk J Snyders
1
109
1
1
90
Erik Fransen
1
109
1
1
90
Lut Van Laer
1
109
1
1
95
Enrico Bertini
2
131
4
4
95
Jeroen van Reeuwijk
1
106
1
1
95
Hans Van Bokhoven
1
106
5
4
95
Hans Scheffer
1
106
2
1
95
Pascale Guicheney
1
106
2
3
100
Jo Vandesompele
1
105
2
7
100
Geert R Mortier
2
180
1
2
100
Ludwine M Messiaen
1
105
1
3
100
Frank Speleman
1
105
3
9
100
Anna L Gloyn
1
105
1
3
100
Eric Legius
1
105
2
3
106
David S Rosenblatt
1
103
2
2
107
Shuen-Iu Hung
1
101
1
2
107
Paul Van de Heyning
1
101
3
6
107
Lee, Ming Ta Michael
1
101
1
1
110
Carlo Rivolta
1
100
1
1
111
Milena Cannella
1
98
2
3
111
Sophie Nicole
1
98
1
1
111
Catherine Boileau
1
98
1
1
111
Paul N Baird
1
98
3
1
111
Matthias Ballmaier
1
98
1
2
111
Gabor Matyas
1
98
1
2
111
Haluk A Topaloglu
1
98
1
1
111
Manuela Germeshausen
1
98
1
3
111
Vittorio Maglione
1
98
2
2
111
Ferdinando Squitieri
1
98
2
4
111
Robyn H. Guymer
1
98
2
1
111
Hϋlya Kayserili
2
156
1
2
111
Catherine A Mccarty
1
98
2
2
111
Morgane Stum
1
98
1
1
125
Stéphanie Baulac
1
93
1
2
125
Christel Depienne
1
93
2
2
125
Alexis Arzimanoglou
1
93
1
2
128
Heather Hampel
1
90
1
2
128
Albert de la Chapelle
1
90
1
3
128
Mark Clendenning
1
90
1
2
131
John Christodoulou
2
96
1
5
132
Georgia Chenevix-Trench
1
88
3
5
132
Patrick Concannon
1
88
1
3
132
Mark E Jenkins
1
88
3
4
132
Amanda B Spurdle
1
88
2
3
136
Bert Vogelstein
1
87
5
5
136
Victor E Velculescu
1
87
2
6
136
Laura D Wood
1
87
1
2
139
Daniel Hohl
1
84
1
1
139
Ina Knerr
1
84
1
1
139
Laurence Feldmeyer
1
84
1
1
139
Jacques S Beckmann
1
84
1
3
139
Marcel Huber
1
84
2
2
139
Ute Spiekerkötter
1
84
1
1
145
Todd E Scheetz
3
158
1
2
145
Val C Sheffield
2
92
1
3
145
Terry A Braun
2
92
1
2
145
Edwin M Stone
3
158
1
4
149
Stephen J Perkins
1
79
2
2
150
Cynthia A James
1
77
1
5
150
Daniel P Judge
1
77
1
5
150
Alain Puisieux
1
77
1
3
153
Paul J Coucke
1
75
1
4
153
Robert Hofstra
1
75
1
4
153
Gaetan Lesca
1
75
1
3
153
Marjolijn J L Ligtenberg
1
75
1
1
153
Nicoline Hoogerbrugge
1
75
2
3
153
Johan Gille
1
75
1
2
153
Jan C Oosterwijk
1
75
1
2
160
Maurizio Averna
1
74
4
2
161
Andrew J Lotery
1
73
1
1
161
Graeme C Black
1
73
1
1
161
Daniel F Schorderet
1
73
1
1
161
Caroline C W Klaver
1
73
1
2
161
Tomoyuki Nakamura
1
73
1
2
161
Arthur Ab Bergen
1
73
1
3
161
Richard P O Jones
1
73
1
1
168
Vincenzo Sorrentino
1
72
1
1
168
Vincenzo Sorrentino
1
72
1
1
170
Xiaowei Chen
1
66
1
2
170
Louise S Bicknell
1
66
1
2
170
Deborah Krakow
1
66
2
5
170
John H Fingert
1
66
1
1
170
Andrea Superti-Furga
1
66
2
3
170
Robert F Mullins
1
66
1
3
170
Robert Ritch
1
66
6
6
177
Deborah L Stabley
1
65
2
2
178
Bart De Strooper
1
62
3
5
178
Rik Vandenberghe
1
62
1
5
178
Nathalie Brouwers
1
62
2
3
181
Evelyne Heyer
1
61
1
3
181
Etienne Patin
1
61
1
3
181
Lluis Quintana-Murci
1
61
2
2
184
David M Baguley
1
60
3
3
184
Martin P Snead
1
60
1
1
184
Allan J Richards
1
60
1
1
187
Seamas C Donnelly
1
59
1
3
187
Simonetta Monti
1
59
1
2
187
Daniel Grinberg
3
95
1
2
187
Pieter Hiemstra
1
59
1
6
187
Sally L Chappell
2
66
1
2
187
Kevin Morgan
1
59
1
1
194
Francesco Carinci
1
58
1
1
194
Hannie Kremer
1
58
2
3
194
Laurence Colleaux
1
58
1
3
194
Ersan Kalay
1
58
1
1
194
Thomas Braulke
1
58
1
2
194
Frans P M Cremers
1
58
2
5
194
Erwin van Wijk
1
58
2
3
194
Stephan Tiede
1
58
1
2
194
Celine V Cluzeau
1
58
1
1
194
Marcella Martinelli
1
58
1
1
194
Guntram Borck
1
58
1
1
194
Luca Scapoli
1
58
1
1
194
Christian Kubisch
1
58
2
2
207
Olga Anczukow
1
57
1
1
208
Stephen J Chanock
2
65
6
11
208
José Antonio Enríquez
1
56
1
3
208
Jeffery P Struewing
1
56
1
2
208
Raquel Moreno-Loshuertos
1
56
1
2
208
M Esther Gallardo
1
56
1
2
208
Montserrat Garcia-Closas
1
56
4
5
208
Parveen Bhatti
1
56
1
1
208
Jolanta Lissowska
1
56
6
7
208
Louise A Brinton
1
56
3
8
208
Beata Pepłońska
1
56
1
4
218
Esmé Waanders
1
55
1
1
218
Doris Hendig
1
55
1
2
218
Ulrich M Zanger
1
55
3
4
218
Rene Hm Te Morsche
1
55
1
1
218
Matthias Schwab
1
55
1
1
223
Anne Durandy
1
54
1
9
223
Sophie Peron
1
54
1
3
225
Yonghong Li
1
53
2
3
225
Christoph Röcken
1
53
4
9
225
Steven J Schrodi
1
53
1
2
228
Federico Zara
1
52
5
9
228
Andrea Martinuzzi
1
52
1
8
228
Carlo Minetti
1
52
3
8
228
Giacomo P Comi
2
90
1
2
228
Guillermo Antiñolo
1
52
2
2
228
Costanza Lamperti
1
52
1
1
228
Massimiliano Filosto
1
52
1
1
228
Claudio Bruno
1
52
2
6
228
Denise Cassandrini
1
52
2
2
228
Diana Valverde
1
52
1
2
228
José M Millán
1
52
2
2
228
Olimpia Musumeci
2
90
2
1
228
Carmen Ayuso
1
52
3
3
228
Amparo Navea
1
52
1
2
242
José Ramón Fernández Lorenzo
1
51
1
1
242
Antonio Salas
1
51
4
7
242
Angel Carracedo
1
51
5
7
245
Tosso Leeb
1
50
4
3
245
Markus Keiser
1
50
1
1
245
Hassan Y Naim
1
50
2
2
248
Simone Spuler
1
49
1
1
248
Jutta Gärtner
2
67
1
3
248
Hendrik Rosewich
1
49
1
1
251
Dirk Roos
1
48
2
2
251
Mustafa Yavuz koker
1
48
1
1
251
Martin de Boer
1
48
1
2
251
Susanta Roychoudhury
1
48
1
1
251
Stephen Jolles
1
48
1
2
251
Michael A Levine
1
48
1
2
257
Carlos Martín Restrepo
1
47
1
1
257
Anthony P Monaco
1
47
3
3
257
John D Rioux
1
47
4
9
257
Vito Annese
1
47
1
3
257
Mark Joseph Daly
1
47
6
11
257
Carmelo Bernabeu
1
47
1
4
257
Jochen Hampe
3
106
1
7
257
Luisa Maria Botella
1
47
1
2
257
Carol A Wise
1
47
1
1
257
Cathryn M Lewis
2
80
1
3
257
Christopher G Mathew
2
80
1
5
257
Africa Fernandez-L
1
47
1
2
257
John Mansfield
2
80
1
1
270
Hava Peretz
1
46
1
1
270
Meytal Landau
1
46
1
1
270
Meena Upadhyaya
1
46
1
4
270
Gareth Evans
1
46
9
16
270
Barry S Coller
1
46
2
2
275
Marius Ader
1
45
2
1
275
Martin Hersberger
1
45
2
4
275
Arpad Palfi; A Palfi; Palfi, A; Pálfi, A
1
45
1
1
279
P H B Bolton-Maggs
1
44
2
4
279
William D Foulkes
1
44
5
9
279
Tae-Joon Cho
1
44
1
3
279
Soo Kyung Koo
1
44
1
1
279
Sung-Chul Jung
1
44
2
2
279
Lili Li
1
44
1
1
285
Jesús Argente
1
43
2
3
285
Pilar Rodríguez-Pombo
1
43
1
1
285
Karen E Heath
1
43
1
1
285
Sara Benito-Sanz
1
43
1
1
285
Pablo Lapunzina
1
43
2
2
285
Darya Gorbenko del Blanco
1
43
1
1
285
Paulino Gomez-Puertas
1
43
2
2
285
Angel Campos-Barros
1
43
1
1
294
John D Potter
1
42
2
12
294
Ian H Law
1
42
1
1
294
James Robinson
1
42
1
1
294
Alfred L George
1
42
1
5
294
Leomar Y Ballester
1
42
1
1
294
Steven G E Marsh
1
42
4
4
294
Katherine Mathews
1
42
1
2
294
D Woodrow Benson
1
42
1
5
302
Michela Raponi
1
41
1
1
302
George P Patrinos
1
41
1
1
302
Alberto Auricchio
1
41
3
5
302
Michele De Luca
1
41
2
4
302
Enrico Maria Surace
1
41
1
2
302
Valeria Marigo
1
41
1
3
302
Andrea Ballabio
1
41
2
4
302
Diana Baralle
1
41
1
4
310
Hr Waterham
1
40
1
1
311
Flora Peyvandi
1
39
4
6
311
Roberta Palla
1
39
2
3
311
Nicola Longo
1
39
3
3
311
Antonio Torroni
2
46
1
6
311
Giuliana Merati
1
39
1
1
311
Igor Vorechovsky
1
39
1
3
311
Fulvio Cruciani
1
39
1
2
311
Raimondo De Cristofaro
1
39
1
1
311
Haixin Lei
1
39
1
1
311
Jana Kralovicova
1
39
1
2
311
Tamim H Shaikh
1
39
1
1
322
Mario Cazzola
1
38
3
5
322
José Antonio García Erce
1
38
4
3
322
Nicoletta Resta
1
38
1
4
322
Paolo Arosio
1
38
1
2
322
Patrizia Suppressa
1
38
1
1
322
Warren D Kruger
1
38
1
1
322
Sonia Levi
1
38
1
2
322
Paolo Arosio
1
38
1
2
322
Serena Pagliarani
1
38
1
1
322
Anna Domaszewska
1
38
1
1
322
Daniela Melis
1
38
1
1
322
Maurizio Ferrari
1
38
4
3
334
Thierry Bienvenu
1
37
2
4
334
Marie Legendre
1
37
1
2
336
Wei Li
1
36
1
1
336
Jonathan W Bourne
1
36
1
1
338
Beatriz Martínez-Delgado
1
35
1
2
338
Ana Osorio
1
35
1
3
338
Rogelio González Sarmiento
1
35
1
4
338
Marina Pollan
1
35
2
5
338
Abdou ElSharawy
1
35
1
1
338
Lorenzo Melchor
1
35
1
1
338
Marta Cuadros
1
35
1
1
338
Eladio Andrés Velasco
1
35
1
2
338
Philip Rosenstiel
1
35
1
5
347
Ada Funaro
1
34
1
4
347
Rong Mao
1
34
3
7
347
Chung Yeng Looi
1
34
1
1
347
Alfredo Brusco
1
34
1
3
347
Yoji Sasahara
1
34
1
1
347
Wei Du
1
34
1
1
353
Roland G Roberts
1
33
1
1
354
Constantinos Deltas
1
32
1
2
354
Kyproula Christodoulou
1
32
1
1
354
Hossein Najmabadi
1
32
2
4
354
Marina Kleanthous
1
32
1
2
354
Farzin Pourfarzad
1
32
1
1
359
Benoit Guillet
1
31
1
1
360
Ming-Jen Lee
1
30
1
1
361
Brian F Meyer
1
28
3
1
361
Anas M Alazami
1
28
1
1
361
Sulaiman M Al-Mayouf
1
28
1
1
364
Erik A Sistermans
1
27
2
4
364
Lei Yang
1
27
1
1
364
William G Newman
1
27
1
2
364
Peter K Rogan
2
34
1
1
364
Michael C Dean
1
27
3
14
369
Filippo M Santorelli
1
25
7
14
369
Jan Traeger-Synodinos
1
25
1
3
369
Penelope C Ioannou
1
25
1
2
369
Simon M Laws
1
25
1
2
369
Hans Förstl
1
25
1
4
369
Eleonore Eymard-Pierre
1
25
1
2
369
Raul Estevez
1
25
1
1
376
Pui-Yan Kwok
1
24
2
7
376
Kari E North
1
24
2
6
376
Andre Franke
1
24
1
4
376
Michael Krawczak
1
24
1
6
376
Andreas Wollstein
1
24
1
1
381
Maurizio Costabile
1
23
1
1
381
Antonio Ferrante
1
23
1
1
381
Conxi Lazaro Garcia
1
23
1
2
381
Marjan Huizing
1
23
1
2
381
Alex Quach
1
23
1
1
381
Eduard Serra
1
23
1
1
381
Sara Larriba
1
23
1
1
381
Yair Anikster
1
23
1
1
389
Harald M Surowy
1
22
1
1
390
Iosif I Vaisman
1
21
1
3
390
Pierre Hainaut
1
21
1
7
390
Magali Olivier
1
21
1
3
390
Susanna Balcells
2
36
1
3
390
Roser Urreizti
2
36
1
1
390
Ewy A Mathé
1
21
1
2
390
Jaime Bernal
1
21
1
2
397
Lucio Bertario
1
20
1
6
397
Paolo Radice
1
20
1
4
397
Renato Mariani-Costantini
1
20
1
2
397
Laura De Lellis
1
20
1
1
397
Alessandro CAMA
1
20
1
2
402
Hong-Wen Deng
1
19
8
10
402
Peng Xiao
1
19
1
2
405
Ronald J A Wanders
1
18
4
13
405
Cecilia M Lindgren
1
18
1
6
405
Jacob O Odeberg
1
18
1
4
405
Juha Kere
1
18
3
14
405
Stephan Kemp
1
18
1
3
410
Jens Ledet Jensen
1
17
1
1
411
Matthias Titeux
1
16
2
4
411
Jose E Mejia
1
16
1
1
411
Alain Hovnanian
1
16
2
9
414
Ene Choo Tan
1
15
1
1
414
Danny Chuon
1
15
1
1
416
Nigel Mongan
1
14
1
4
416
Pavel Strnad
1
14
1
2
416
M Bishr Omary
1
14
3
8
416
Julie Van der Zee
1
14
1
3
421
Han-Wook Yoo
1
13
1
1
421
Nobuhiko Sakurai
1
13
1
1
421
Gu-Hwan Kim
1
13
1
1
421
Atsushi Yoshiki
1
13
1
2
421
Baldomero Oliva
1
13
2
3
421
Sm Singh, Shiva Singh
1
13
1
1
427
Claire K Ankuda
1
11
1
1
428
Grover C Bagby
1
10
3
7
428
Felipe J Chaves
1
10
1
3
428
Sebastián Blesa
1
10
1
2
428
Sergio Martinez Hervas
1
10
1
2
428
Leonid Padyukov
1
10
1
6
428
Abbot F Clark
1
10
2
3
428
Gerard Pals
1
10
1
4
435
Gianni Cuda
1
9
2
5
435
Francesco S Costanzo
1
9
2
2
435
Francesco Baudi
1
9
2
2
435
David J Fredman
1
9
1
2
435
Jeffrey D Zajac
1
9
1
3
435
Claes Wahlestedt
1
9
2
9
442
Marta Casado
1
7
1
4
442
Santiago Vernia
1
7
1
1
442
Alessandro Achilli
1
7
2
6
442
Francesco Rubino
1
7
1
1
442
Christopher E Pearson
1
7
1
2
442
Marco Baralle
1
7
1
3
442
Kathleen A Hill
1
7
1
2
442
Kelly D Farwell Hagman
1
7
1
3
442
Monica Santamaria
1
7
1
1
442
Antonio Hernández-Mijares
1
7
1
2
442
Delphine Eberlé
1
7
1
1
442
Joan Hm Knoll
1
7
1
2
442
Matteo Accetturo
1
7
1
1
455
Bernard W Futscher
1
5
1
4
456
Simon Easteal
1
4
1
2
456
Xavier Estivill
1
4
3
9
456
Ester Ballana
1
4
2
3
456
Didier Lacombe
1
4
3
8
456
Wenyi Wang
1
4
1
3
456
Juan Ramón González
1
4
1
3
462
Henry Völzke
1
0
2
10
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