Robin D. Clark - Publications, H-index & Citations

Robin D. Clark

University of Birmingham

47H指数

346论文数

8.2K被引数

收录论文 38

发表时间

Exploring the sub-nanometre domain: Evaluating mass loading effects on platinum nanocluster catalysts fabricated via magnetron sputtering 探索亚纳米领域：评估磁控溅射制备的铂纳米团簇催化剂的负载质量效应

Electrochemistry Communications

IF4.2

2025-12-11

OAAI

Richard O.D. Clark; Eman Alharbi; Gazi Aliev; Wolfgang Theis; Emerson C. Kohlrausch; Jesum Alves Fernandes; Neil V. Rees

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti 长读长测序技术对于色素失禁症的精准诊断是必需的。

Human Genetics and Genomics Advances

IF3.6

2025-06-12

OAAI

Monica H. Wojcik; Robin D. Clark; Abdallah F. Elias; Casie A. Genetti; Jill A. Madden; Dana Simpson; Linda Golkar; Miranda P.G. Zalusky; Angela L. Miller; Araceli Rodriguez; Joy Goffena; Camille A. Dash; Nikhita Damaraju; Sophia B. Gibson; Sophie H.R. Storz; Zachary B. Anderson; Jonas A. Gustafson; Isabelle Thiffault; Emily G. Farrow; Tomi Pastinen; Danny E. Miller

Novel Fabrication and Characterization of a Bespoke Ultralow Loading Platinum Nanocluster on Carbon Black Catalyst 新型定制超低载量铂纳米团簇碳黑催化剂的制备与表征

JOURNAL OF PHYSICAL CHEMISTRY C

IF3.2

2025-04-01

PREAI

Clark, Richard O. D.; Alharbi, Eman; Aliev, Gazi N.; Theis, Wolfgang; Kohlrausch, Emerson C.; Fernandes, Jesum Alves; Rees, Neil V.

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-10-01

OAAI

Petit, Florence; Longoni, Mauro; Wells, Julie; Maser, Richard S.; Bogenschutz, Eric L.; Dysart, Matthew J.; Contreras, Hannah T. M.; Frenois, Frederic; Pober, Barbara R.; Clark, Robin D.; Giampietro, Philip F.; Ropers, Hilger H.; Hu, Hao; Loscertales, Maria; Wagner, Richard; Ai, Xingbin; Brand, Harrison; Jourdain, Anne-Sophie; Delrue, Marie-Ange; Gilbert-Dussardier, Brigitte; Devisme, Louise; Keren, Boris; McCulley, David J.; Qiao, Lu; Hernan, Rebecca; Wynn, Julia; Scott, Tiana M.; Calame, Daniel G.; Coban-Akdemir, Zeynep; Hernandez, Patricia; Hernandez-Garcia, Andres; Yonath, Hagith; Lupski, James R.; Shen, Yufeng; Chung, Wendy K.; Scott, Daryl A.; Bult, Carol J.; Donahoe, Patricia K.; High, Frances A.

Genotype-phenotype correlations in RHOBTB2- associated neurodevelopmental disorders

GENETICS IN MEDICINE

IF6.2

2023-08-01

OAAI

Langhammer, Franziska; Maroofian, Reza; Badar, Rueda; Gregor, Anne; Rochman, Michelle; Ratliff, Jeffrey B.; Koopmans, Marije; Herget, Theresia; Hempel, Maja; Kortuem, Fanny; Heron, Delphine; Mignot, Cyril; Keren, Boris; Brooks, Susan; Botti, Christina; Ben-Zeev, Bruria; Argilli, Emanuela; Sherr, Elliot H.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Bakhtiari, Somayeh; Kruer, Michael C.; Salih, Mustafa A.; Kuechler, Alma; Muller, Eric A.; Blocker, Karli; Kuismin, Outi; Park, Kristen L.; Kochhar, Aaina; Brown, Kathleen; Ramanathan, Subhadra; Clark, Robin D.; Elgizouli, Magdeldin; Melikishvili, Gia; Tabatadze, Nazhi; Stark, Zornitza; Mirzaa, Ghayda M.; Ong, Jinfon; Grasshoff, Ute; Bevot, Andrea; von Wintzingerode, Lydia; Jamra, Rami A.; Hennig, Yvonne; Goldenberg, Paula; Al Alam, Chadi; Charif, Majida; Boulouiz, Redouane; Bellaoui, Mohammed; Amrani, Rim; Al Mutairi, Fuad; Tamim, Abdullah M.; Abdulwahab, Firdous; Alkuraya, Fowzan S.; Khouj, Ebtissal M.; Alvi, Javeria R.; Sultan, Tipu; Hashemi, Narges; Karimiani, Ehsan G.; Ashrafzadeh, Farah; Imannezhad, Shima; Efthymiou, Stephanie; Houlden, Henry; Sticht, Heinrich; Zweier, Christiane

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2022-07-24

OAAI

Thomas, Ajay X.; Link, Nichole; Robak, Laurie A.; Demmler-Harrison, Gail; Pao, Emily C.; Squire, Audrey E.; Michels, Savannah; Cohen, Julie S.; Comi, Anne; Prontera, Paolo; di Pianella, Alberto Verrotti; Di Cara, Giuseppe; Garavelli, Livia; Caraffi, Stefano Giuseppe; Fusco, Carlo; Zuntini, Roberta; Parks, Kendall C.; Sherr, Elliott H.; Hashem, Mais O.; Maddirevula, Sateesh; Alkuraya, Fowzan S.; Contractar, Isphana A. F.; Neil, Jennifer E.; Walsh, Christopher A.; Bellen, Hugo J.; Chao, Hsiao-Tuan; Clark, Robin D.; Mirzaa, Ghayda M.

Response to Biesecker et al.

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-09-01

OAAI

Biesecker, Leslie G.; Adam, Margaret P.; Alkuraya, Fowzan S.; Amemiya, Anne R.; Bamshad, Michael J.; Beck, Anita E.; Bennett, James T.; Bird, Lynne M.; Carey, John C.; Chung, Brian; Clark, Robin D.; Cox, Timothy C.; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B.; Giampietro, Philip F.; Girisha, Katta M.; Glass, Ian A.; Graham, John M., Jr.; Gripp, Karen W.; Haldeman-Englert, Chad R.; Hall, Bryan D.; Innes, A. Micheil; Kalish, Jennifer M.; Keppler-Noreuil, Kim M.; Kosaki, Kenjiro; Kozel, Beth A.; Mirzaa, Ghayda M.; Mulvihill, John J.; Nowaczyk, Malgorzata J. M.; Pagon, Roberta A.; Retterer, Kyle; Rope, Alan F.; Sanchez-Lara, Pedro A.; Seaver, Laurie H.; Shieh, Joseph T.; Slavotinek, Anne M.; Sobering, Andrew K.; Stevens, Cathy A.; Stevenson, David A.; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C.; Weaver, David D.; Williams, Marc S.; Zackai, Elaine; Zarate, Yuri A.

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

JOURNAL OF MEDICAL GENETICS

IF3.7

2021-07-28

OAAI

Velmans, Clara; O'Donnell-Luria, Anne H.; Argilli, Emanuela; Tran Mau-them, Frederic; Vitobello, Antonio; Chan, Marcus C. Y.; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Aubert Mucca, Marion; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denomme-Pichon, Anne-Sophie; de Dios, John Karl; England, Eleina; Funalot, Benoit; Gerard, Marion; Joseph, Maries; Kennedy, Colleen; Kumps, Camille; Willems, Marjolaine; van de Laar, Ingrid M. B. H.; Aarts-Tesselaar, Coranne; van Slegtenhorst, Marjon; Lehalle, Daphne; Leppig, Kathleen; Lessmeier, Lennart; Pais, Lynn S.; Paterson, Heather; Ramanathan, Subhadra; Rodan, Lance H.; Superti-Furga, Andrea; Chung, Brian H. Y.; Sherr, Elliott; Netzer, Christian; Schaaf, Christian P.; Erger, Florian

A dyadic approach to the delineation of diagnostic entities in clinical genomics

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-01-01

OAAI

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly

DEVELOPMENTAL CELL

IF8.7

2019-12-01

OAAI

Link, Nichole; Chung, Hyunglok; Jolly, Angad; Withers, Marjorie; Tepe, Burak; Arenkiel, Benjamin R.; Shah, Priya S.; Krogan, Nevan J.; Aydin, Hatip; Geckinli, Bilgen B.; Tos, Tulay; Isikay, Sedat; Tuysuz, Beyhan; Mochida, Ganesh H.; Thomas, Ajay X.; Clark, Robin D.; Mirzaa, Ghayda M.; Lupski, James R.; Bellen, Hugo J.

Child Neurology: Siblings with infantile epilepsy and developmental delay A circuitous path to genomic diagnosis

NEUROLOGY

IF8.5

2018-07-17

OAAI

Liu, Yin; Michelson, David; Clark, Robin; Gold, June-Anne

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2015-07-01

OAAI

Deml, Brett; Reis, Linda M.; Lemyre, Emmanuelle; Clark, Robin D.; Kariminejad, Ariana; Semina, Elena V.

Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome NPHP1基因座处的复发性CNVs和SNVs有助于致病等位基因导致bardet-biedl综合征

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2014-05-01

OAAI

Lindstrand, Anna; Davis, Erica E.; Carvalho, Claudia M. B.; Pehlivan, Davut; Willer, Jason R.; Tsai, I-Chun; Ramanathan, Subhadra; Zuppan, Craig; Sabo, Aniko; Muzny, Donna; Gibbs, Richard; Liu, Pengfei; Lewis, Richard A.; Banin, Eyal; Lupski, James R.; Clark, Robin; Katsanis, Nicholas

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2012-09-01

162

OAAI

Manzini, M. Chiara; Tambunan, Dimira E.; Hill, R. Sean; Yu, Tim W.; Maynard, Thomas M.; Heinzen, Erin L.; Shianna, Kevin V.; Stevens, Christine R.; Partlow, Jennifer N.; Barry, Brenda J.; Rodriguez, Jacqueline; Gupta, Vandana A.; Al-Qudah, Abdel-Karim; Eyaid, Wafaa M.; Friedman, Jan M.; Salih, Mustafa A.; Clark, Robin; Moroni, Isabella; Mora, Marina; Beggs, Alan H.; Gabriel, Stacey B.; Walsh, Christopher A.

Modulation of sexual behaviour in the rat by a potent and selective alpha(2)-adrenoceptor antagonist, delequamine (RS-15385-197)

BRITISH JOURNAL OF PHARMACOLOGY

IF7.7

2012-07-19

OAAI

Tallentire, D; McRae, G; Spedding, M; Clark, R; Vickery, B

RS-39604 - A POTENT, SELECTIVE AND ORALLY-ACTIVE 5-HT4 RECEPTOR ANTAGONIST

BRITISH JOURNAL OF PHARMACOLOGY

IF7.7

2012-07-19

OAAI

HEGDE, SS; BONHAUS, DW; JOHNSON, LG; LEUNG, E; CLARK, RD; EGLEN, RM

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2012-07-01

238

OAAI

Kleefstra, Tjitske; Kramer, Jamie M.; Neveling, Kornelia; Willemsen, Marjolein H.; Koemans, Tom S.; Vissers, Lisenka E. L. M.; Wissink-Lindhout, Willemijn; Fenckova, Michaela; van den Akker, Willem M. R.; Kasri, Nael Nadif; Nillesen, Willy M.; Prescott, Trine; Clark, Robin D.; Devriendt, Koenraad; van Reeuwijk, Jeroen; de Brouwer, Arjan P. M.; Gilissen, Christian; Zhou, Huiqing; Brunner, Han G.; Veltman, Joris A.; Schenck, Annette; van Bokhoven, Hans

Selective glucocorticoid receptor (type II) antagonists prevent weight gain caused by olanzapine in rats

EUROPEAN JOURNAL OF PHARMACOLOGY

IF4.7

2011-03-01

PREAI

Belanoff, Joseph K.; Blasey, Christine M.; Clark, Robin D.; Roe, Robert L.

Selective glucocorticoid receptor (type II) antagonist prevents and reverses olanzapine-induced weight gain

DIABETES OBESITY & METABOLISM

IF5.7

2010-04-20

OAAI

Belanoff, J. K.; Blasey, C. M.; Clark, R. D.; Roe, R. L.

Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2009-11-01

136

OAAI

Urban, Zsolt; Hucthagowder, Vishwanathan; Schuermann, Nura; Todorovic, Vesna; Zilberberg, Lior; Choi, Jiwon; Sens, Carla; Brown, Chester W.; Clark, Robin D.; Holland, Kristen E.; Marble, Michael; Sakai, Lynn Y.; Dabovic, Branka; Rifkin, Daniel B.; Davis, Elaine C.

研究方向