Citation Rankings
Highly Cited Researchers

Medical and Health Sciences / Medical Genetics Highly Cited Researchers 25 Scientists Citation Rankings - 2025

The Citation Rankings (Highly Cited Researchers) list highlight the most cited and influential researchers across a vast range of scientific fields, covering 197 main and sub-disciplines, including the Art and Humanities Citation Rankings and Social Sciences and Humanities Citation Rankings. This service, offered exclusively by AD Scientific Index, aims to provide a balanced perspective by excluding data from CERN and other statistical sources that disproportionately favor certain researchers, particularly in the social sciences and humanities. This unique approach addresses the advantages researchers with multi-author publications and CERN involvement hold over others. Furthermore, citation rankings help uncover rule violations and unethical practices within the research community. For more detailed citation analyses, explore the Scientists Last 6 Years Citation Index, Universities Total Citations Rankings 2025, and Universities Last 6 Years Citations Rankings 2025.

* Total Citation Counts Rankings
Ranking Based On Selection: 1
United States
Stephen T Warren
Department of Human Genetics
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
51,621
8,810
0.171
* Total Citation Counts Rankings
Ranking Based On Selection: 2
United States
Peng Jin
Unstable Repeats
Epigenetics
Fragile X
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
31,933
12,680
0.397
* Total Citation Counts Rankings
Ranking Based On Selection: 3
United States
Stephanie L Sherman
Down syndrome
Fragile X-associated disorders
Meiosis
Human Genetics
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
27,073
6,849
0.253
* Total Citation Counts Rankings
Ranking Based On Selection: 4
United States
William Wilcox
Medical Genetics
Inborn Errors of Metabolism
Genetic Skeletal Disorders
Dwarfisms
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
22,220
6,788
0.305
* Total Citation Counts Rankings
Ranking Based On Selection: 5
United States
Karen Conneely
statistical genetics
epigenomics
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
17,805
7,534
0.423
* Total Citation Counts Rankings
Ranking Based On Selection: 6
United States
Michael P Epstein
Statistical Genetics
Genetic Epidemiology
Human Genetics
Biostatistics
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
15,388
5,132
0.334
* Total Citation Counts Rankings
Ranking Based On Selection: 7
United States
Joseph F Cubells
autism
copy number variants
22q11 Deletion Syndrome
Fragile X syndrome
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
15,129
4,277
0.283
* Total Citation Counts Rankings
Ranking Based On Selection: 8
United States
David Weinshenker
Neuroscience
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
12,022
5,063
0.421
* Total Citation Counts Rankings
Ranking Based On Selection: 9
United States
Yuan Xue
molecular genetics
Mendelian skeletal dysplasia
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
10,394
8,364
0.805

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* Total Citation Counts Rankings
Ranking Based On Selection: 10
United States
Michael E Zwick
Human Genetics
Genomics
Population Genetics
Pediatric Genetics
Population Biology
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
10,376
5,403
0.521
* Total Citation Counts Rankings
Ranking Based On Selection: 11
United States
Michael Gambello
tuberous sclerosis
human genetics
newborn screening
neurogenetics
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
8,649
2,962
0.342
* Total Citation Counts Rankings
Ranking Based On Selection: 12
United States
Bing Yao
Epigenetics
Genetics
Neurogenesis
Brain disorders
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
7,787
4,326
0.556
* Total Citation Counts Rankings
Ranking Based On Selection: 13
United States
Andrew Escayg
human genetics
neurological disorders
epilepsy
drug discovery
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
7,709
2,441
0.317
* Total Citation Counts Rankings
Ranking Based On Selection: 14
United States
Judith L Fridovich Keil
metabolic disease
genetic causes of developmental delay
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
5,322
1,183
0.222
* Total Citation Counts Rankings
Ranking Based On Selection: 15
United States
Arunkanth Ankala
Muscular dystrophy
Clinical genetics and genomics
New gene discovery for NMDs
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
2,192
1,100
0.502
* Total Citation Counts Rankings
Ranking Based On Selection: 16
United States
Alice Tanner
Genetics
genetic counseling
genetic testing
clinical molecular genetics
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
1,882
494
0.262
* Total Citation Counts Rankings
Ranking Based On Selection: 17
United States
Kathryn Garber
Human Genetics
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
1,591
339
0.213
* Total Citation Counts Rankings
Ranking Based On Selection: 18
United States
Ha Eun Kong
Human genetics
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
1,371
1,021
0.745
* Total Citation Counts Rankings
Ranking Based On Selection: 19
United States
Suresh Venkateswaran
Bioinformatics
Inflammatory Bowel Disease
Human Genetics
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
1,366
1,097
0.803
* Total Citation Counts Rankings
Ranking Based On Selection: 20
United States
Yang Wang
General Molecular Diagnosis
Molecular diagnosis of gastrointestinal cancers
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
1,312
533
0.406
* Total Citation Counts Rankings
Ranking Based On Selection: 21
United States
Patricia Hall
Biochemical Genetics
Human Genetics
Newborn Screening
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
1,231
716
0.582
* Total Citation Counts Rankings
Ranking Based On Selection: 22
United States
Babi Ramesh Reddy Nallamilli
Clinical genetics
Muscular Dystrophy
Next generation sequencing (NGS) technologies
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
1,151
687
0.597
* Total Citation Counts Rankings
Ranking Based On Selection: 23
United States
Jing Xie
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
974
415
0.426
* Total Citation Counts Rankings
Ranking Based On Selection: 24
United States
Syed Hussain Mehdi Askree
Molecular Genetics
Biochemical Genetics
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
575
114
0.198
* Total Citation Counts Rankings
Ranking Based On Selection: 25
United States
Nicholas Johnson
Human Genetics
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
113
103
0.912
* Total Citation Counts Rankings
Rankings
9,785
United States
4,648
31
Ranking Based On Selection: 1
Stephen T Warren
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
51,621
8,810
0.171
* Total Citation Counts Rankings
Rankings
20,858
United States
9,651
68
Ranking Based On Selection: 2
Peng Jin
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
31,933
12,680
0.397
* Total Citation Counts Rankings
Rankings
26,851
United States
12,270
86
Ranking Based On Selection: 3
Stephanie L Sherman
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
27,073
6,849
0.253
Down syndrome
Fragile X-associated disorders
Meiosis
Human Genetics
* Total Citation Counts Rankings
Rankings
35,798
United States
16,020
115
Ranking Based On Selection: 4
William Wilcox
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
22,220
6,788
0.305
Medical Genetics
Inborn Errors of Metabolism
Genetic Skeletal Disorders
Dwarfisms
* Total Citation Counts Rankings
Rankings
48,639
United States
21,088
152
Ranking Based On Selection: 5
Karen Conneely
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
17,805
7,534
0.423
* Total Citation Counts Rankings
Rankings
59,128
United States
25,125
187
Ranking Based On Selection: 6
Michael P Epstein
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
15,388
5,132
0.334
Statistical Genetics
Genetic Epidemiology
Human Genetics
Biostatistics
* Total Citation Counts Rankings
Rankings
60,457
United States
25,657
192
Ranking Based On Selection: 7
Joseph F Cubells
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
15,129
4,277
0.283
autism
copy number variants
22q11 Deletion Syndrome
Fragile X syndrome
* Total Citation Counts Rankings
Rankings
80,872
United States
33,080
233
Ranking Based On Selection: 8
David Weinshenker
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
12,022
5,063
0.421
* Total Citation Counts Rankings
Rankings
96,184
United States
38,465
263
Ranking Based On Selection: 9
Yuan Xue
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
10,394
8,364
0.805
* Total Citation Counts Rankings
Rankings
96,388
United States
38,545
265
Ranking Based On Selection: 10
Michael E Zwick
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
10,376
5,403
0.521
Human Genetics
Genomics
Population Genetics
Pediatric Genetics
Population Biology

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Gain data-driven strategic insights into your institution’s academic performance, global positioning, and competitive strengths through advanced analysis and benchmarking

with 20 similarly ranked institutions at City, Country, Region, and Global levels. 

* Total Citation Counts Rankings
Rankings
118,620
United States
46,182
310
Ranking Based On Selection: 11
Michael Gambello
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
8,649
2,962
0.342
tuberous sclerosis
human genetics
newborn screening
neurogenetics
* Total Citation Counts Rankings
Rankings
133,239
United States
50,965
342
Ranking Based On Selection: 12
Bing Yao
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
7,787
4,326
0.556
* Total Citation Counts Rankings
Rankings
134,662
United States
51,455
346
Ranking Based On Selection: 13
Andrew Escayg
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
7,709
2,441
0.317
human genetics
neurological disorders
epilepsy
drug discovery
* Total Citation Counts Rankings
Rankings
196,675
United States
70,812
443
Ranking Based On Selection: 14
Judith L Fridovich Keil
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
5,322
1,183
0.222
metabolic disease
genetic causes of developmental delay
* Total Citation Counts Rankings
Rankings
419,261
United States
133,919
778
Ranking Based On Selection: 15
Arunkanth Ankala
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
2,192
1,100
0.502
Muscular dystrophy
Clinical genetics and genomics
New gene discovery for NMDs
* Total Citation Counts Rankings
Rankings
467,662
United States
147,073
833
Ranking Based On Selection: 16
Alice Tanner
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
1,882
494
0.262
Genetics
genetic counseling
genetic testing
clinical molecular genetics
* Total Citation Counts Rankings
Rankings
523,711
United States
161,816
898
Ranking Based On Selection: 17
Kathryn Garber
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
1,591
339
0.213
* Total Citation Counts Rankings
Rankings
574,515
United States
175,198
942
Ranking Based On Selection: 18
Ha Eun Kong
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
1,371
1,021
0.745
* Total Citation Counts Rankings
Rankings
575,743
United States
175,508
944
Ranking Based On Selection: 19
Suresh Venkateswaran
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
1,366
1,097
0.803
Bioinformatics
Inflammatory Bowel Disease
Human Genetics
* Total Citation Counts Rankings
Rankings
590,038
United States
179,057
961
Ranking Based On Selection: 20
Yang Wang
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
1,312
533
0.406
General Molecular Diagnosis
Molecular diagnosis of gastrointestinal cancers
* Total Citation Counts Rankings
Rankings
612,364
United States
184,817
993
Ranking Based On Selection: 21
Patricia Hall
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
1,231
716
0.582
Biochemical Genetics
Human Genetics
Newborn Screening
* Total Citation Counts Rankings
Rankings
636,582
United States
190,941
1,020
Ranking Based On Selection: 22
Babi Ramesh Reddy Nallamilli
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
1,151
687
0.597
Clinical genetics
Muscular Dystrophy
Next generation sequencing (NGS) technologies
* Total Citation Counts Rankings
Rankings
696,497
United States
205,762
1,089
Ranking Based On Selection: 23
Jing Xie
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
974
415
0.426
* Total Citation Counts Rankings
Rankings
878,059
United States
246,252
1,331
Ranking Based On Selection: 24
Syed Hussain Mehdi Askree
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
575
114
0.198
* Total Citation Counts Rankings
Rankings
1,567,302
United States
347,047
1,829
Ranking Based On Selection: 25
Nicholas Johnson
Citation Metrics
Total
Last 6 Years
Last 6 Years / Total
113
103
0.912
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