| An idiopathic epilepsy syndrome linked to 3q13. 3q21 and missense mutations in the extracellular calcium sensing receptor gene A Kapoor, P Satishchandra, R Ratnapriya, R Reddy, J Kadandale, ... Annals of Neurology: Official Journal of the American Neurological …, 2008 | 86 | 2008 |
| Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7 R Reddy, E Akoury, NM Phuong Nguyen, OA Abdul-Rahman, C Dery, ... European Journal of Human Genetics 21 (9), 957-964, 2013 | 76 | 2013 |
| Causative mutations and mechanism of androgenetic hydatidiform moles NMP Nguyen, ZJ Ge, R Reddy, S Fahiminiya, P Sauthier, R Bagga, ... The American Journal of Human Genetics 103 (5), 740-751, 2018 | 74 | 2018 |
| Phylogeography of mtDNA haplogroup R7 in the Indian peninsula G Chaubey, M Karmin, E Metspalu, M Metspalu, D Selvi-Rani, VK Singh, ... BMC Evolutionary Biology 8, 1-12, 2008 | 71 | 2008 |
| A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21. 3-q22. 3 R Ratnapriya, P Satishchandra, SD Kumar, G Gadre, R Reddy, A Anand Human genetics 125, 541-549, 2009 | 55 | 2009 |
| Comprehensive genotype–phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation NMP Nguyen, L Zhang, R Reddy, C Déry, J Arseneau, A Cheung, U Surti, ... Journal of Medical Genetics 51 (9), 623-634, 2014 | 37 | 2014 |
| The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions R Reddy, NMP Nguyen, G Sarrabay, M Rezaei, MCG Rivas, A Kavasoglu, ... European Journal of Human Genetics 24 (10), 1445-1452, 2016 | 28 | 2016 |
| Strontium fails to induce Ca2+ release and activation in human oocytes despite the presence of functional TRPV3 channels Y Lu, R Reddy, M Ferrer Buitrago, M Vander Jeught, J Neupane, ... Human Reproduction Open 2018 (3), hoy005, 2018 | 25 | 2018 |
| Comparative analysis of different nuclear transfer techniques to prevent the transmission of mitochondrial DNA variants M Tang, RR Guggilla, Y Gansemans, M Van der Jeught, A Boel, ... Molecular Human Reproduction 25 (12), 797-810, 2019 | 22 | 2019 |
| Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing R Reddy, S Fahiminiya, E El Zir, A Mansour, A Megarbane, J Majewski, ... PloS one 9 (9), e107326, 2014 | 19 | 2014 |
| Recurrent pregnancy loss in a woman with NLRP7 mutation: not all molar pregnancies can be easily classified as either “partial” or “complete” hydatidiform moles L Brown, S Mount, R Reddy, R Slim, C Wong, V Jobanputra, P Clifford, ... International Journal of Gynecological Pathology 32 (4), 399-405, 2013 | 19 | 2013 |
| Comparative analysis of mouse and human preimplantation development following POU5F1 CRISPR/Cas9 targeting reveals interspecies differences P Stamatiadis, A Boel, G Cosemans, M Popovic, B Bekaert, R Guggilla, ... Human Reproduction 36 (5), 1242-1252, 2021 | 17 | 2021 |
| Unraveling the causes of failed fertilization after intracytoplasmic sperm injection due to oocyte activation deficiency D Bonte, RR Guggilla, P Stamatiadis, P De Sutter, B Heindryckx Reproductomics, 243-277, 2018 | 9 | 2018 |
| Digital polymerase chain reaction for assessment of mutant mitochondrial carry-over after nuclear transfer for in vitro fertilization O Tytgat, MX Tang, W van Snippenberg, A Boel, RR Guggilla, ... Clinical Chemistry 67 (7), 968-976, 2021 | 5 | 2021 |
| Associations with Single Rare Heterozygous NLRP7 Variants for Chinese Patients with Sporadic Gestational Trophoblastic Diseases P Zhang, X Yu, J Ying, R Reddy, J Shi, X Zhu, Y Ding, Q Cheng, W Zhao, ... | | 2020 |
| A proof-of-concept study to investigate DNA repair mechanisms in the human embryo after the application of CRISPR/Cas9 gene editing in the germ line B Bekaert, A Boel, L De Witte, M Popovic, RR Guggilla, S Mishra, ... 21th BeSHG meeting: Reproductive Genetics, 2020 | | 2020 |
| RET Genotype & MEN2 Phenotype correlation in a large Indian Medullary Thyroid Carcinoma (MTC) cohort & influence of SNPs in 3 genetic pathways on MTC behavior V Mishra, P Kowtal, R Reddy, N Mahida, R Sarin EUROPEAN JOURNAL OF HUMAN GENETICS 27, 447-448, 2019 | | 2019 |
| The use of pronuclear transfer to overcome infertility disorders in mice B Heindryckx, A Boel, P Stamatiadis, M Van der Jeught, RR Guggilla, ... 35th Annual Meeting of the European-Society-of-Human-Reproduction-and …, 2019 | | 2019 |
| Mitochondrial DNA sequence variation in Sugali tribe of Andhra Pradesh RR Guggilla Centre for cellular and molecular biology, 2005 | | 2005 |
Rima SlimProfessor, Depts of Human Genetics and Obstetrics and Gynecology, McGill University在 mcgill.ca 的电子邮件经过验证
