James Lespinasse

ScholarGPS® ID: 18636820232495

Affiliation

University of Pittsburgh, Pittsburgh, United States

Affiliation History

Field

Medicine

Discipline

Obstetrics and Gynecology

Top Specialties

Metrics Summary

Publication Count

Predicted Citations

2,976

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

Add Delete
Breast cancer risk in NF1 -deleted patients (journal article) Pacot, Laurence \| Masliah-Planchon, Julien \| Petcu, Adina \| Terris, Benoit \| Gauthier Villars, Marion \| Lespinasse, James \| Wolkenstein, Pierre \| Vincent-Salomon, Anne \| Vidaud, Dominique \| Pasmant, Eric Journal of Medical Genetics (2023). 10.1136/jmg-2023-109682 Cite \| Source
Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome (journal article) Marbach, Felix \| Lipska‐Ziętkiewicz, Beata S. \| Knurowska, Agata \| Michaud, Vincent \| Margot, Henri \| Lespinasse, James \| Tran Mau Them, Frédéric \| Coubes, Christine \| Park, Joohyun \| Grosch, Sarah \| ... \| Schaaf, Christian P. American Journal of Medical Genetics Part A, volume 188, issue 9, pages 2627-2636 (2022). 10.1002/ajmg.a.62884 Cited by (1) \| Cite \| Source
DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility (journal article) Fiévet, Alice \| Bellanger, Dorine \| Zahed, Laila \| Burglen, Lydie \| Derrien, Anne‐Céline \| Dubois d'Enghien, Catherine \| Lespinasse, James \| Parfait, Béatrice \| Pedespan, Jean‐Michel \| Rieunier, Guillaume \| ... \| Stern, Marc‐Henri Human Mutation, volume 41, issue 3, pages 608-618 (2020). 10.1002/humu.23955 Cited by (6) \| Cite \| Source
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders (journal article) Grelet, Maude \| Blanck, Véronique \| Sigaudy, Sabine \| Philip, Nicole \| Giuliano, Fabienne \| Khachnaoui, Khaoula \| Morel, Godelieve \| Grotto, Sarah \| Sophie, Julia \| Poirsier, Céline \| ... \| De Sandre-Giovannoli, Annachiara Orphanet Journal of Rare Diseases, volume 14, issue 1 (2019). 10.1186/s13023-019-1189-z Cited by (5) \| Cite \| Source
Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (journal article) Jønch, Aia Elise \| Douard, Elise \| Moreau, Clara \| Van Dijck, Anke \| Passeggeri, Marzia \| Kooy, Frank \| Puechberty, Jacques \| Campbell, Carolyn \| Sanlaville, Damien \| Lefroy, Henrietta \| ... \| Jacquemont, Sébastien Journal of Medical Genetics, volume 56, issue 10, pages 701-710 (2019). 10.1136/jmedgenet-2018-105879 Cited by (40) \| Cite \| Source
Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature (journal article) Lamotte, Anna \| Martinez, Guillaume \| Devillard, Françoise \| Hograindleur, Jean-Pascal \| Satre, Véronique \| Coutton, Charles \| Harbuz, Radu \| Amblard, Florence \| Lespinasse, James \| Benchaib, Mehdi \| ... \| Hennebicq, Sylviane Basic and Clinical Andrology, volume 28, issue 1 (2018). 10.1186/s12610-018-0069-z Cited by (11) \| Cite \| Source \| Open Access
Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia (journal article) Bogliolo, Massimo \| Bluteau, Dominique \| Lespinasse, James \| Pujol, Roser \| Vasquez, Nadia \| d'Enghien, Catherine Dubois \| Stoppa-Lyonnet, Dominique \| Leblanc, Thierry \| Soulier, Jean \| Surrallés, Jordi Genetics in Medicine, volume 20, issue 4, pages 458-463 (2018). 10.1038/gim.2017.124 Cited by (52) \| Cite \| Source
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1 (journal article) Piard, Juliette \| Lespinasse, James \| Vlckova, Marketa \| Mensah, Martin A. \| Iurian, Sorin \| Simandlova, Martina \| Malikova, Marcela \| Bartsch, Oliver \| Rossi, Massimiliano \| Lenoir, Marion \| ... \| Van Maldergem, Lionel American Journal of Medical Genetics Part A, volume 176, issue 3, pages 668-675 (2018). 10.1002/ajmg.a.38604 Cited by (11) \| Cite \| Source \| Open Access
Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1 (journal article) Chatron, Nicolas \| Thibault, Lucie \| Lespinasse, James \| Labalme, Audrey \| Schluth-Bolard, Caroline \| Till, Marianne \| Edery, Patrick \| Touraine, Renaud \| des Portes, Vincent \| Lesca, Gaetan \| Sanlaville, Damien Molecular Syndromology, volume 8, issue 6, pages 325-330 (2017). 10.1159/000479455 Cited by (5) \| Cite \| Source \| Open Access
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30‐year French, retrospective, multicentre study (journal article) Gruchy, Nicolas \| Blondeel, Eleonore \| Le Meur, Nathalie \| Joly‐Hélas, Géraldine \| Chambon, Pascal \| Till, Marianne \| Herbaux, Martine \| Vigouroux‐Castera, Adeline \| Coussement, Aurélie \| Lespinasse, James \| ... \| Vialard, François Prenatal Diagnosis, volume 36, issue 6, pages 523-529 (2016). 10.1002/pd.4817 Cited by (11) \| Cite \| Source
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation (journal article) Lesca, Gaetan \| Moizard, Marie‐Pierre \| Bussy, Gerald \| Boggio, Dominique \| Hu, Hao \| Haas, Stefan A. \| Ropers, Hans‐Hilger \| Kalscheuer, Vera M. \| Des Portes, Vincent \| Labalme, Audrey \| ... \| Lespinasse, James American Journal of Medical Genetics Part A, volume 161, issue 12, pages 3063-3071 (2013). 10.1002/ajmg.a.36162 Cited by (31) \| Cite \| Source \| Open Access
Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis (journal article) Démurger, F. \| Pasquier, L. \| Dubourg, C. \| Dupé, V. \| Gicquel, I. \| Evain, C. \| Ratié, L. \| Jaillard, S. \| Beri, M. \| Leheup, B. \| ... \| David, V. Molecular Syndromology, volume 4, issue 6, pages 267-272 (2013). 10.1159/000353878 Cited by (18) \| Cite \| Source \| Open Access
Non-USH2A mutations in USH2 patients (journal article) Besnard, Thomas \| Vaché, Christel \| Baux, David \| Larrieu, Lise \| Abadie, Caroline \| Blanchet, Catherine \| Odent, Sylvie \| Blanchet, Patricia \| Calvas, Patrick \| Hamel, Christian \| ... \| Roux, Anne-Françoise Human Mutation, volume 33, issue 3, pages 504-510 (2012). 10.1002/humu.22004 Cited by (55) \| Cite \| Source
Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome (journal article) Gruchy, N. \| Vialard, F. \| Decamp, M. \| Choiset, A. \| Rossi, A. \| Le Meur, N. \| Moirot, H. \| Yardin, C. \| Bonnet-Dupeyron, M. N. \| Lespinasse, J. \| ... \| Leporrier, N. Human Reproduction, volume 26, issue 9, pages 2570-2575 (2011). 10.1093/humrep/der193 Cited by (25) \| Cite \| Source \| Open Access
Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism (journal article) Devillard, Françoise \| Guinchat, Vincent \| Moreno‐De‐Luca, Daniel \| Tabet, Anne‐Claude \| Gruchy, Nicolas \| Guillem, Pascale \| Nguyen Morel, Marie‐Ange \| Leporrier, Nathalie \| Leboyer, Marion \| Jouk, Pierre‐Simon \| ... \| Betancur, Catalina American Journal of Medical Genetics Part A, volume 152A, issue 9, pages 2346-2354 (2010). 10.1002/ajmg.a.33601 Cited by (17) \| Cite \| Source \| Open Access
Mild Intellectual Disability Associated with a Progeny of Father-Daughter Incest: Genetic and Environmental Considerations (journal article) Ansermet, François \| Lespinasse, James \| Gimelli, Stefania \| Béna, Frédérique \| Paoloni-Giacobino, Ariane Journal of Child Sexual Abuse, volume 19, issue 3, pages 337-344 (2010). 10.1080/10538711003788991 Cited by (6) \| Cite \| Source
Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 (journal article) Lyle, Robert \| Béna, Frédérique \| Gagos, Sarantis \| Gehrig, Corinne \| Lopez, Gipsy \| Schinzel, Albert \| Lespinasse, James \| Bottani, Armand \| Dahoun, Sophie \| Taine, Laurence \| ... \| Antonarakis, Stylianos E European Journal of Human Genetics, volume 17, issue 4, pages 454-466 (2009). 10.1038/ejhg.2008.214 Cited by (226) \| Cite \| Source \| Open Access
Fertility defects revealing germline biallelic nonsense NBN mutations (journal article) Warcoin, Mathilde \| Lespinasse, James \| Despouy, Gilles \| Dubois d'Enghien, Catherine \| Laugé, Anthony \| Portnoï, Marie-France \| Christin-Maitre, Sophie \| Stoppa-Lyonnet, Dominique \| Henri Stern, Marc Human Mutation, volume 30, issue 3, pages 424-430 (2009). 10.1002/humu.20904 Cited by (17) \| Cite \| Source
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing (journal article) Thauvin-Robinet, Christel \| Franco, Brunella \| Saugier-Veber, Pascale \| Aral, Bernard \| Gigot, Nadège \| Donzel, Anne \| Van Maldergem, Lionel \| Bieth, Eric \| Layet, Valérie \| Mathieu, Michèle \| ... \| Faivre, Laurence Human Mutation, volume 30, issue 2, pages E320-E329 (2009). 10.1002/humu.20888 Cited by (27) \| Cite \| Source \| Open Access
Characterization of an interstitial deletion 6q13–q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms (journal article) Lespinasse, James \| Gimelli, Stefania \| Béna, Frédérique \| Antonarakis, Stylianos E. \| Ansermet, François \| Paoloni-Giacobino, Ariane European Journal of Medical Genetics, volume 52, issue 1, pages 49-52 (2009). 10.1016/j.ejmg.2008.10.001 Cited by (10) \| Cite \| Source