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	Pierre Hainaut	1	1,441	5	1
1	Magali Olivier	1	1,441	2	1
1	Ewy A Mathé	1	1,441	1	1
4	Francis H Glorieux	1	620	2	1
4	Paul J Coucke	2	759	1	1
4	Raymond Dalgleish	1	620	1	1
4	Peter H Byers	1	620	1	1
4	Aileen M Barnes	1	620	1	1
4	Deborah Krakow	1	620	1	1
4	Wayne A Cabral	1	620	1	1
4	Joan C Marini	2	683	1	1
4	Antonella Forlino	1	620	2	1
4	Monica Mottes	1	620	1	1
14	Jochen Hampe	1	324	3	2
14	David N Cooper	3	442	1	3
14	Michael Krawczak	2	344	2	2
17	Judith Offman	1	296	1	1
17	Giovanna Zambruno	1	296	2	1
17	Elena Botta	1	296	1	1
20	Helena Paula Brentani	1	263	2	1
20	Bruce J Tonge	1	263	1	1
20	Carla Rosenberg	1	263	2	1
20	Ana Cristina Krepischi	1	263	2	1
20	Wei Chen	1	263	1	2
26	Sylvain Hanein	2	246	1	1
26	Jean-Michel Rozet	3	360	1	1
26	Josseline Kaplan	1	224	1	1
26	Elisa Fazzi	1	224	3	2
26	Isabelle Perrault	2	246	1	1
31	Hensin Tsao	1	222	1	1
32	Robert J Harvey	1	213	1	3
32	Fiona Francis	1	213	1	1
32	Jamel Chelly	3	423	1	1
32	Christian Siebold	1	213	1	2
32	Karine Poirier	2	316	1	2
32	David Keays	1	213	2	2
32	Laurent Pasquier	2	238	1	2
32	Sylvie Odent	1	213	1	1
40	Eng King Tan	1	212	3	1
40	Eng-King Tan	1	212	3	1
42	Eamonn R Maher	1	209	3	1
42	Emma R Woodward	1	209	1	1
44	Radek Cmejla	1	203	1	1
44	Jana Cmejlova	1	203	1	1
44	Jiri Petrak	1	203	1	1
47	Daria V Babushok	1	184	1	1
48	Sylvie Tuffery-Giraud	1	178	1	1
48	Dalil Hamroun	1	178	1	1
48	Christophe Beroud	2	285	1	2
51	George P Patrinos	1	175	1	1
51	Maria Samara	1	175	1	1
51	Webb Miller	2	254	3	4
54	Nathan A Ellis	1	169	1	1
55	Joris Robert Vermeesch	2	238	1	1
55	Koenraad Devriendt	1	166	1	2
55	Suzanna Gm Frints	1	166	1	1
58	Per Magne Ueland	1	164	4	3
59	Alexis Brice	3	331	4	3
59	Marc Cruts	2	278	1	1
59	Christine Van Broeckhoven	3	325	1	1
59	Julie Van der Zee	2	278	1	1
63	Santiago Rodriguez de Cordoba	1	160	2	6
63	Marina Noris	1	160	4	3
63	Margarita López-Trascasa	1	160	1	2
63	Stephen J Perkins	1	160	1	1
63	Elena Goicoechea De Jorge	1	160	2	4
63	Peter F Zipfel	1	160	4	6
63	Giuseppe Remuzzi	1	160	11	3
63	Christine Skerka	1	160	1	3
71	Barbara Plecko	1	158	1	1
71	Barbara Plecko	1	158	1	1
73	Anand Swaroop	2	189	2	2
73	Artur V Cideciyan	1	148	1	1
73	Geoffrey K Aguirre	1	148	2	2
73	Samuel G Jacobson	1	148	2	1
73	Edwin M Stone	1	148	6	4
73	Bo Chang	1	148	1	2
73	Hemant Khanna	1	148	2	2
80	Julie De Backer	1	139	1	3
80	Natzi Sakalihasan	1	139	1	1
80	Fransiska Malfait	1	139	1	1
80	Sofie Symoens	1	139	1	1
84	Meg R Gerstenblith	1	135	1	1
84	Maria Concetta Fargnoli	1	135	1	1
84	Maria Teresa Landi	1	135	1	1
87	David I Wilson	1	134	1	1
87	Gabriella Milan	1	134	1	2
87	Pietro Maffei	1	134	2	2
87	Tom Hearn	1	134	1	1
87	Roberto Vettor	1	134	2	2
87	W Venus So	1	134	1	1
93	Stefan Aretz	1	130	1	1
94	Meredith Wilson	1	128	1	1
95	Marco Tartaglia	1	123	3	2
95	Karen Gripp	1	123	2	2
95	Graeme C Black	2	159	1	2
95	Giuseppe Zampino	1	123	2	2
95	Bruno Dallapiccola	2	189	3	3
95	Andrea Ballabio	3	212	1	1
95	Katherine A Rauen	1	123	2	2
95	Gilda Cobellis	1	123	1	1
95	Claudio Carta	1	123	2	2
95	Xinhua Shu	1	123	1	1
105	Xavier Roca	1	122	1	1
106	Hans R Waterham	1	121	1	3
106	Ronald J A Wanders	1	121	2	4
106	William S Oetting	1	121	1	1
106	Sacha Ferdinandusse	1	121	1	1
106	Saara E Ollila	1	121	1	1
106	John Christodoulou	2	131	1	2
106	Anne B Moser	1	121	1	1
106	Philip A Chan	1	121	1	1
114	Vorasuk Shotelersuk	1	120	1	1
115	Silvio Garofalo	1	118	1	1
115	Roberto Giorda	2	159	1	1
115	Renata Bocciardi	1	118	1	1
115	Orsetta Zuffardi	2	159	4	6
115	Maria Teresa Divizia	1	118	1	1
115	Margherita Lerone	2	120	1	1
115	Sara Tavella	1	118	1	1
115	Michael Bader	1	118	3	6
115	Giorgio Gimelli	2	159	1	2
124	Rong Mao	1	117	2	2
124	David K Crockett	1	117	1	1
126	Rik Vandenberghe	1	116	1	3
126	Jean-Jacques Martin	1	116	1	1
126	Kristel Sleegers	1	116	2	5
126	Patrick Santens	1	116	1	2
126	Frederic Rousseau	1	116	1	1
126	Nathalie Brouwers	1	116	1	2
126	Sebastian Maurer-Stroh	1	116	1	2
133	Douglas A Brooks	1	113	1	2
133	Roberto Giugliani	1	113	3	4
133	Litsa Karageorgos	1	113	1	1
136	Michael O Woods	1	110	1	1
137	Arthur H M Burghes	1	107	1	2
137	Jean-Claude Kaplan	1	107	1	1
139	Vera M Kalscheuer	1	103	1	2
139	Stephen G Young	1	103	1	3
139	Bert B A De Vries	1	103	1	1
139	Jeffrey H Miner	1	103	3	5
139	A P M De Brouwer	1	103	1	1
139	Hans Van Bokhoven	1	103	3	4
139	Andreas Tzschach	1	103	3	3
139	Martine Raynaud	1	103	1	1
139	Jozef Gecz	1	103	2	4
139	Hans-Hilger Ropers	1	103	3	3
139	Annalisa Passariello	1	103	1	2
150	Patrick Edery	1	98	1	1
150	Hildegard Kehrer-Sawatzki	1	98	1	2
150	Dominique Bonneau	3	209	1	2
150	David Baux	1	98	1	1
154	Yi-Wen Lin	1	96	1	1
155	Stanislas Lyonnet	2	111	2	4
155	Tania Attie-Bitach	2	167	2	4
155	Colin A Johnson	1	92	3	4
155	Emmanuelle Genin	1	92	3	2
159	Michel D Ferrari	1	89	4	6
159	Martin Dichgans	1	89	1	2
159	Michael Pusch	1	89	1	1
159	Gisela M Terwindt	1	89	1	4
163	Ali Muhammad Waryah	1	87	1	1
163	Ozgul M Alper	1	87	1	1
163	Robert J Morell	1	87	1	1
163	Thomas B Friedman	2	164	2	1
167	Janice Holton	1	85	3	5
168	Kazuhiro Yamakawa	1	83	1	3
168	Antonio V Delgado-Escueta	1	83	1	2
168	Philippe Lory	1	83	2	4
168	Toshimitsu Suzuki	1	83	1	1
168	Arnaud Monteil	1	83	1	1
173	Jacques Young	1	81	1	1
173	Geert R Mortier	2	153	3	4
173	Slawomir Wolczynski	1	81	1	2
176	Petra Liskova	2	147	1	1
176	Govindasamy Kumaramanickavel	1	80	3	1
176	Celine V Cluzeau	1	80	1	1
176	Eranga N Vithana	1	80	1	1
180	Maria-Christina Zennaro	1	79	1	2
180	Xavier Jeunemaitre	1	79	2	5
180	Laurent Villard	2	112	1	3
180	Hanno J Bolz	1	79	1	2
180	Peter Charbel Issa	1	79	2	4
180	Belinda M Giardine	1	79	1	3
180	Dimitrios T Papadimitriou	1	79	1	1
180	Jerome Fagart	1	79	2	1
180	Mauno Vihinen	2	89	1	1
180	Laura L Elnitski	1	79	1	2
180	Emilie Dambroise	1	79	1	1
180	Ross Hardison	1	79	2	4
180	Laurence Legeai-Mallet	1	79	1	1
194	Rima Slim	1	78	1	1
194	Rashmi Bagga	1	78	1	1
196	Richard J H Smith	1	77	6	10
197	Simon A Gayther	2	84	1	2
197	Paul D P Pharoah	2	84	1	9
197	Ian J Jacobs	2	84	2	4
197	Susan J Ramus	2	84	1	2
201	Stylianos Antonarakis	1	75	4	9
201	Mathieu Clément-Ziza	1	75	1	3
203	B Menten	1	72	1	1
203	Cedric Le Caignec	1	72	2	1
203	Frank Speleman	1	72	1	5
203	Bernard Thienpont	1	72	1	3
203	Frank R Kooy	2	87	1	4
208	Laurence Colleaux	1	71	1	2
208	Guntram Borck	1	71	1	1
210	Markus Schuelke	1	70	1	2
210	Ulf-Peter Guenther	1	70	1	1
212	Claude Ferec	3	187	1	2
212	Jian-Min Chen	3	187	1	2
212	Miklos Sahin-Toth	1	68	1	3
215	Stephen J Tuft	1	67	1	3
215	Panagiotis Deloukas	1	67	5	9
215	Alison J Hardcastle	1	67	1	1
215	Shomi S Bhattacharya	1	67	1	2
215	Katerina Jirsova	1	67	1	1
215	DeQuincy Prescott	1	67	1	2
221	Enza Maria Valente	1	66	3	4
221	Stefano Goldwurm	1	66	2	2
221	Roberta Marongiu	1	66	1	1
221	Francesco Brancati	1	66	2	4
221	Angelo Antonini	1	66	4	5
221	Gianni Pezzoli	1	66	2	3
227	Marguerite Neerman-Arbez	1	65	2	2
227	Alain Puisieux	1	65	1	1
229	Mirella Filocamo	3	142	1	1
229	Barbara Tappino	1	64	1	1
229	Stefano Regis	1	64	1	1
229	Fabio Corsolini	1	64	1	1
229	Camillo Rosano	1	64	1	1
234	Sergey Leikin	1	63	1	3
234	Andrzej Fertala	1	63	1	1
234	Simon Easteal	1	63	2	5
234	Anthony F. Jorm	1	63	6	11
234	Elena Makareeva	1	63	1	2
239	Valerie Malan	1	62	1	3
239	Didier Lacombe	1	62	4	8
239	Thierry Frébourg	1	62	2	2
242	Joanne Voisey	1	61	1	1
242	Hitoshi Horigome	1	61	1	1
244	Christina Zeitz	2	107	1	1
244	Minna Mannikko	1	60	2	3
244	Timothy D Spector	1	60	4	15
247	Hannie Kremer	1	58	1	1
247	Ersan Kalay	1	58	1	1
247	Frans P M Cremers	1	58	4	6
247	Yelda Birinci	1	58	1	1
247	Nathalie S Seta	1	58	1	2
247	Rob W J Collin	1	58	1	1
247	Bayram Toraman	1	58	1	1
254	Peter M George	1	57	4	2
254	Ursula R Jewell	1	57	1	1
256	Michel De Vos	1	56	1	1
257	George Davey Smith	1	55	15	23
257	Elisabetta Tabolacci	1	55	1	2
257	Deborah A Lawlor	1	55	8	12
257	Maria Teresa Bassi	2	57	1	1
257	Avan Aihie Sayer	1	55	2	4
257	Stephen O'rahilly	1	55	7	10
257	Germana Meroni	1	55	1	1
257	Cyrus Cooper	2	73	5	11
257	Karen Tan	1	55	1	1
266	Joaquin Arenas	1	54	2	3
266	Alejandro Lucia	1	54	5	8
266	Blázquez A	1	54	1	1
266	Gisela Nogales	1	54	2	3
266	Miguel Angel Martín	1	54	2	3
272	Efraim H Rosenberg	1	53	1	1
272	Charles E Schwartz	1	53	2	5
272	Suzanne Lesage	1	53	1	1
275	Robert Desnick	1	52	1	3
276	Lene J Rasmussen	1	51	1	2
276	Robert Hofstra	2	63	1	6
276	Rolf H Sijmons	2	63	1	2
276	Lionel Val Maldergem	1	51	1	1
276	Kathleen A Hill	2	67	1	2
276	Kelly D Farwell Hagman	2	67	1	2
276	Maria Pia Cosma	1	51	1	2
283	Han-Wook Yoo	1	50	1	1
283	Thomas Rosenberg	1	50	1	1
283	John M Graham	1	50	2	3
286	Michel Tsimaratos	1	49	1	3
286	Caterina Cancrini	1	49	1	1
286	Encarna Guillén-Navarro	1	49	1	1
286	Gul Nihal Ozdemir	1	49	1	1
286	Onur Sakallıoğlu	1	49	1	1
286	Jorge M Saraiva	1	49	1	2
286	Asbj�rg Stray-Pedersen	1	49	2	1
286	Pierre Cochat	1	49	2	3
286	Cornelius F Boerkoel	1	49	2	2
286	Anja Stein	1	49	1	1
286	Cristina Rusu	1	49	1	1
286	Helen Fryssira	1	49	1	1
286	Thomas Lücke	1	49	2	3
299	Jessie Theuns	1	47	1	3
299	Vincent Timmerman	1	47	1	5
299	Robin Lemmens	1	47	2	4
299	Arseni Markoff	1	47	1	2
299	John Neidhardt	1	47	1	1
299	Ludo Van Den Bosch	1	47	2	7
299	Sophie Janssens	1	47	1	3
299	Peter De Jonghe	1	47	1	3
307	Leonardo Salviati	1	46	2	2
307	Elisha D O Roberson	1	46	1	1
307	Patrice Bouvagnet	1	46	1	1
307	Hongliang Liu	1	46	1	3
307	Jun Aruga	1	46	1	4
307	Sabrina Sacconi	1	46	1	1
307	Hongbing Shen	1	46	1	3
307	Giuseppe Basso	1	46	4	8
307	Qingyi Wei	1	46	6	8
307	Eva Trevisson	1	46	2	2
307	Luca Cesaro	1	46	1	1
307	Elisha Do Roberson	1	46	1	1
320	Gangqiao Zhou	1	45	1	2
321	Ottavia Porzio	1	44	1	1
321	Susan A Slaugenhaupt	1	44	1	3
321	Noam Shomron	1	44	2	2
321	Daniel F Schorderet	1	44	1	2
321	Alessandro Terrinoni	1	44	2	2
321	Philippe Froguel	1	44	8	14
321	El Chérif Ibrahim	1	44	1	2
321	Massimo Federici	1	44	1	2
329	Francisco Sánchez-Sánchez	1	43	1	1
329	Sibylle Mittnacht	1	43	1	2
329	Maria del Carmen Ramirez-Castillejo	1	43	1	1
329	Zai-Sheng Wu	1	43	1	3
333	Ana Osorio	2	83	1	2
334	Jesús Argente	1	41	2	2
334	Mercedes Robledo	1	41	2	7
334	Cristina Rodriguez-Antona	1	41	1	3
334	Marcos Malumbres	1	41	1	5
334	Sabrina Rita Giglio	1	41	1	2
334	Cristina Montero-Conde	1	41	2	3
334	Sergio Ruiz-Llorente	1	41	1	1
334	Maria Clara Bonaglia	1	41	1	3
334	Maurizio Genuardi	1	41	1	2
334	Alberto Cascon	1	41	1	6
344	Stephen H Tsang	1	40	1	2
344	Michael Larsen	1	40	2	2
344	Vinit B Mahajan	1	40	1	1
348	Hidenori Ito	1	39	2	1
348	Koh-ichi Nagata	1	39	1	1
350	Joël Zlotogora	1	38	2	2
350	Carmine Settembre	1	38	1	4
350	Willy Lissens	1	38	2	2
353	Peter J Scambler	1	36	1	4
353	John R Grigg	1	36	2	3
353	Robyn Jamieson	1	36	2	4
353	Ljubica Caldovic	2	62	1	1
353	Hiroki Morizono	1	36	2	1
358	Isabella Ceccherini	1	35	1	3
358	Francesca Lantieri	1	35	1	1
358	Tiziana Bachetti	1	35	1	1
358	Marco Di Duca	1	35	1	1
362	Ayse Fulya Teksen	1	34	1	1
362	Lars G Fritsche	1	34	1	3
362	Jan Senderek	1	34	1	3
362	Thomas Meitinger	1	34	2	8
362	Christian Kubisch	1	34	1	2
362	Bernhard Hf Weber	1	34	1	3
369	Steven N Lisgo	1	33	1	2
369	Marshall S Horwitz	1	33	1	4
369	N Rezaei	1	33	2	7
369	Vincent Cantagrel	1	33	1	1
369	William B Dobyns	1	33	3	7
369	Carlos Cardoso	1	33	1	1
369	Susan Lindsay	1	33	1	2
376	Kenji Wakai	1	31	6	9
376	Keitaro Matsuo	1	31	7	14
378	Maria Brion	1	30	2	2
378	Gemma Marfany	1	30	1	1
378	Angel Carracedo	1	30	3	8
378	Gui-sen Li	1	30	1	1
382	Dawn Coverley	1	29	1	2
382	Zhi-xiang Lu	1	29	1	1
382	Thomas O Krag	1	29	1	2
382	Shaw Jenq Tsai	1	29	1	3
382	H Sunny Sun	1	29	1	2
382	Bing Su	1	29	1	4
382	Martin P Snead	1	29	3	2
382	Allan J Richards	1	29	1	1
390	Maria Antonietta Mencarelli	2	29	1	3
390	Rosangela Artuso	2	29	1	3
390	Alessandra Renieri	2	29	2	6
390	Francesca Ariani	2	29	1	3
390	Anna Caciotti	1	27	1	1
390	Stanley F Nelson	1	27	4	13
390	Wim Wuyts	1	27	1	3
390	Ilaria Meloni	2	29	1	1
390	Francesca Mari	2	29	2	4
390	Donati Maria Alice	1	27	1	2
390	Chiara Pescucci	1	27	1	2
402	Gerhard Meissner	1	26	1	2
402	Steven F Dobrowolski	1	26	1	2
402	Susan Treves	1	26	1	5
402	Robert T Dirksen	1	26	2	5
402	Ana Ferreiro	1	26	1	2
402	Sylvie Ducreux	1	26	2	1
408	David A. Mackey	1	25	4	7
408	Kathryn P Burdon	1	25	1	4
408	Gale Brightwell	1	25	2	4
408	Véronique David	1	25	1	2
408	Claude Bendavid	1	25	1	3
408	Sarah Ennis	1	25	1	1
415	Christiane Mühle	1	23	1	2
416	Alain Hovnanian	1	22	1	6
417	Ting-Fung Chan	1	21	1	2
417	Anita F Quigley	1	21	1	1
417	Pui-Yan Kwok	1	21	2	8
417	Robert Kapsa	1	21	1	2
417	Mark J Cook	1	21	2	8
417	Kym Lowes	1	21	1	1
423	Henk J Blom	1	20	1	3
423	Viktor Kožich	1	20	1	2
423	Guglielmina Pepe	1	20	1	3
423	Jitka Sokolová	1	20	1	1
423	Ewa Pronicka	1	20	1	3
423	Petr Vyleťal	1	20	1	1
423	Olga Rickards	1	20	2	4
423	Generoso Andria	1	20	2	8
431	Jeanne Amiel	1	19	2	7
432	David Roquis	1	18	1	1
432	Andrew Collins	1	18	2	4
432	Beate Niesler	1	18	1	2
432	Krzysztof Sobczak	1	18	2	3
432	Marta Olejniczak	1	18	1	1
432	David S Rosenblatt	1	18	1	1
432	Gudrun A Rappold	1	18	1	6
432	Tom R Gaunt	1	18	1	3
432	Edyta Jaworska	1	18	1	1
432	Piotr Kozlowski	1	18	1	3
432	Rohan Lewis	1	18	1	4
444	Giuliana Merati	1	17	1	1
445	Vanessa M Hayes	1	16	2	3
446	Stephen J Chanock	1	15	9	21
446	Eden R Martin	1	15	2	4
446	Jonathan L Haines	1	15	2	12
446	James G Taylor Vi	1	15	2	2
450	Dhaval S Patel	1	13	1	2
450	Paul C. Driscoll	1	13	2	3
450	Javier Alonso	1	13	1	2
450	Angelo Gámez Pozo	1	13	1	1
450	Acely Garza-Garcia	1	13	1	1
455	Murat Günel	1	12	1	3
455	Murat Terzi	1	12	1	1
455	Yasar Bayri	1	12	1	1
455	Richard P Lifton	1	12	2	6
455	Fatih Bayrakli	1	12	1	2
460	Allison Ashley-Koch	1	10	3	5
460	Christian Beetz	1	10	1	4
460	Paola Carrera	1	10	1	3
460	Christopher J Mcdermott	1	10	1	1
460	Johan T Den Dunnen	1	10	1	8
460	Michael Hutchinson	1	10	2	7
460	Pamela Shaw	1	10	3	10
460	Pamela J Shaw	1	10	2	8
468	Maurice van Steensel	1	9	4	8
469	Dwaipayan Bharadwaj	1	8	1	1
469	Anubha Mahajan	1	8	1	1
469	Sreenivas Chavali	1	8	1	1
472	Carmen Gherasim	1	7	1	1
473	Zheng-Hua Zhang	1	4	1	1
473	Thomas J Hudson	1	4	2	7
473	Peter J Oefner	1	4	2	4
473	Daniel Sinnett	1	4	1	8
473	Marion Kiechle	1	4	1	1
473	Norbert Arnold	1	4	1	6
479	Renato Borgatti	1	2	1	6
479	Albert de la Chapelle	1	2	2	7
479	Mark Clendenning	1	2	1	3
479	Agatino Battaglia	1	2	2	2
479	Livia Garavelli	1	2	1	6
479	Marco Fichera	1	2	2	5
479	Corrado Romano	1	2	3	6
479	Florian Kronenberg	1	2	5	14
479	Chiara Pantaleoni	1	2	2	5
488	Garry R Cutting	1	0	1	2

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