1. A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies. Issue 1 (29th October 2022) Authors: Álvarez, Luis Francisco González; Tenorio‐Castaño, Jair; Poletta, Fernando A.; Santos‐Simarro, Fernando; Arias, Pedro; Gallego, Natalia; Orioli, Iêda Maria; Mundlos, Stefan; Castilla, Eduardo E.; Martínez‐Glez, Víctor; Martínez‐Frías, María Luisa; Ruiz‐Pérez, Víctor L.; Nevado, Julián; Lapunzina,... Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 100 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A New Overgrowth Syndrome is due to Mutations in RNF125. Issue 12 (December 2014) Authors: Tenorio, Jair; Mansilla, Alicia; Valencia, María; Martínez‐Glez, Víctor; Romanelli, Valeria; Arias, Pedro; Castrejón, Nerea; Poletta, Fernando; Guillén‐Navarro, Encarna; Gordo, Gema; Mansilla, Elena; García‐Santiago, Fé; González‐Casado, Isabel; Vallespín, Elena; Palomares, María; Mori, María A.;... Journal: Human mutation Issue: Volume 35:Issue 12(2014:Dec.) Page Start: 1436 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype. Issue 9 (2nd July 2022) Authors: Pacio‐Miguez, Marta; Parrón‐Pajares, Manuel; Gordon, Christopher T.; Santos‐Simarro, Fernando; Rodríguez Jiménez, Carmen; Mena, Rocio; Rueda Arenas, Inmaculada; F. Montaño, Victoria Eugenia; Fernández, María; Solís, Mario; del Pozo, Ángela; Amiel, Jeanne; García‐Miñaur, Sixto; Palomares‐Bralo, María Journal: American journal of medical genetics Issue: Volume 188:Issue 9(2022) Page Start: 2819 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Chondrodysplasia punctata associated with maternal Sjögren syndrome. Issue 6 (25th March 2014) Authors: Huarte, Natalia Marin; Santos‐Simarro, Fernando; Abascal, Ignacio Pastor; García‐Miñaur, Sixto; Omeñaca, Felix Journal: American journal of medical genetics Issue: Volume 164:Issue 6(2014.) Page Start: 1606 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques. Issue 10 (2nd August 2016) Authors: Tenorio, Jair; Romanelli, Valeria; Martin‐Trujillo, Alex; Fernández, García‐Moya; Segovia, Mabel; Perandones, Claudia; Pérez Jurado, Luis A.; Esteller, Manel; Fraga, Mario; Arias, Pedro; Gordo, Gema; Dapía, Irene; Mena, Rocío; Palomares, María; Pérez de Nanclares, Guiomar; Nevado, Julián; García‐... Other Names: Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor. Journal: American journal of medical genetics Issue: Volume 170:Issue 10(2016) Page Start: 2740 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature. Issue 3 (11th December 2020) Authors: Siccha, Sofía M.; Cueto, Anna María; Parrón‐Pajares, Manuel; González‐Morán, Gaspar; Pacio‐Miguez, Marta; Del Pozo, Ángela; Solís, Mario; Rodriguez‐Jimenez, Carmen; Caino, Silvia; Fano, Virginia; Heath, Karen E.; García‐Miñaúr, Sixto; Palomares‐Bralo, María; Santos‐Simarro, Fernando Journal: American journal of medical genetics Issue: Volume 185:Issue 3(2021) Page Start: 856 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses. Issue 5 (28th March 2019) Authors: Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Van Allen, Margot I.; Hulait, Gurdip; Aubertin, Gudrun; Muntoni, Francesco; Fry, Andrew E.; Annerén, Göran; Stattin, Eva‐Lena; Palomares‐Bralo, María; Santos‐Simarro, Fernando; Cucca, Franc... Journal: Clinical genetics Issue: Volume 95:Issue 5(2019) Page Start: 607 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. FGF9 mutation causes craniosynostosis along with multiple synostoses. Issue 11 (25th July 2017) Authors: Rodriguez‐Zabala, Maria; Aza‐Carmona, Miriam; Rivera‐Pedroza, Carlos I.; Belinchón, Alberta; Guerrero‐Zapata, Isabel; Barraza‐García, Jimena; Vallespin, Elena; Lu, Min; del Pozo, Angela; Glucksman, Marc J.; Santos‐Simarro, Fernando; Heath, Karen E. Journal: Human mutation Issue: Volume 38:Issue 11(2017) Page Start: 1471 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders. Issue 11 (21st August 2022) Authors: Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat‐Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; ... Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Further delineation of Malan syndrome. Issue 9 (25th June 2018) Authors: Priolo, Manuela; Schanze, Denny; Tatton‐Brown, Katrin; Mulder, Paul A.; Tenorio, Jair; Kooblall, Kreepa; Acero, Inés Hernández; Alkuraya, Fowzan S.; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K.; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nu... Journal: Human mutation Issue: Volume 39:Issue 9(2018) Page Start: 1226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗