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Fernando Santos‐Simarro

Hospital Universitari Son Espases

30H-index
139Paper Count
4.8KCitation Count
Published Papers 42
Publication Date
Genetic counseling in pediatrics: Clinical implications and challenges in genomic medicine
err2025-12-01
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errChaparro, Diana Salinas; Cabello, Patricia Munoz; Serrano, Gema Escribano; Lopez, Maite Torres; Tizzano, Eduardo F.; Martinez-Monseny, Antonio F.; Santos-Simarro, Fernando
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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
err2025-11-10
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errGhayda M. Mirzaa; Keqin Yan; Raissa Relator; Mathieu Levesque; Pranisha Jayasinghe; Sara Timpano; Binnaz Yalcin; Stephan Collins; Alban Ziegler; Emily Pao; Nora Oyama; Elise Brischoux-Boucher; Juliette Piard; Kristin G. Monaghan; Maria. J. Guillen Sacoto; William B. Dobyns; Kristen L. Park; Daniel Martin Fernández-Mayoralas; Alberto Fernández-Jaén; Parul Jayakar; María Palomares-Bralo; Fernando Santos-Simarro; Alfredo Brusco; Vincenzo Antona; Elisa Giorgio; Malin Kvarnung; Bertrand Isidor; Solène Conrad; Benjamin Cogné; Wallid Deb; Kyra E. Stuurman; Katalin Štěrbová; Noor Smal; Sarah Weckhuysen; Renske Oegema; A. Micheil Innes; Daniel. C. Koboldt; Tawfeg Ben-Omran; Rebecca C. Yeh; Michael C. Kruer; Somayeh Bakhtiari; Antigone Papavasiliou; Sébastien Moutton; Sophie Nambot; Sirisak Chanprasert; Sarah A. Paolucci; Kait Miller; Barbara Burton; Katherine Kim; Emily O’Heir; Zandre Bruwer; Kirsten. A. Donald; Tjitske Kleefstra; Amy Goldstein; Brad Angle; Kelly Bontempo; Peter Miny; Pascal Joset; Florence Demurger; Emma Hobson; Lewis Pang; Lori Carpenter; Dong Li; Dominique Bonneau; Bekim Sadikovic; David J. Picketts
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Rapid genome sequencing in neonatal and pediatric intensive care units. Evidence and current situation
err2025-11-01
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errMiguez, Marta Pacio; Garcia-Min, Sixto; Del Pozo, Angela; Suso, Juan Jose Menendez; Alcala, Francisco J. Climent; Holgado, Maria Sanchez; Garcia, Patricia Alvarez; Rodriguez, Carmen Jimenez; Santos-Simarro, Fernando; Palomares-Bralo, Maria
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Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders
err2025-09-22
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PREAI
errJohnny Bou-Rouphael; Auriane Cospain; Thomas Courtin; Boris Keren; Corentine Marie; Marion Lesieur-Sebellin; Delphine Heron; Jean-Madeleine de Sainte Agathe; Solveig Heide; Elodie Lejeune; Chloe Quelin; François Lecoquierre; Mathilde Nizon; Bertrand Isidor; Thomas Besnard; Benjamin Cogne; Xenia Latypova; Jonathan Levy; Pascal Joset; Katharina Steindl; Maria Palomares-Bralo; Fernando Santos-Simarro; Mary Ann Thomas; Amina Abubakar; Sally Ann Lynch; Amelie J. Müller; Tobias B. Haack; Martin Zenker; Michael Parker; Emma Clossick; Michael Spiller; Renarta Crookes; Muriel Holder-Espinasse; Allan Bayat; Rikke S. Møller; Tomasz Stanislaw Mieszczanek; Pierre de la Grange; Julien Buratti; Pierre Marijon; Sabir Ataf; Ryan Gavin; Carlos Parras; Bassem A. Hassan; Cyril Mignot; Laïla El Khattabi
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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series
err2025-07-01
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errSarah M. Brooker MD, PhD; Maria Novelli MD; Robert Coukos PhD; Neha Prakash MBBS; Walaa A. Kamel MD; Marta Amengual-Gual MD; Mathieu Anheim MD, PhD; Giulia Barcia MD, PhD; Tanya Bardakjian MS; Franciska Baur MD; Steffen Berweck MD; Bigna K. Bölsterli MD; Melanie Brugger MD; Thomas Cassini MD; Nicolas Chatron MD; Brian Corner MS; Hormos Salimi Dafsari MD; Jean-Madeleine de Sainte Agathe MD; Colin A. Ellis MD; Kimberly M. Ezell APRN, FNP; Cendrine Foucard MD; Steven J. Frucht MD; Maria C. Garcia MBBS; Deepak Gill MBBS, FRACP; Anne Guimier MD; Rizwan Hamid MD, PhD; Damià Heine-Suñer PhD; Peter Herkenrath MD; Marie Hully MD; Ioannis U. Isaias MD, PhD; Louis Januel MD; Chloe Laurencin MD; Taylor Laut MS; Alinoe Lavillaureix MD; Gaetan Lesca MD, PhD; Marion Lesieur-Sebellin MD; Luca Magistrelli MD, PhD; Cecilia Marelli MD, PhD; Heather C. Mefford MD, PhD; Bryce A. Mendelsohn MD; Saadet Mercimek-Andrews MD, PhD; Claire Miller MD, PhD; Shekeeb S. Mohammad MBBS, PhD, FRACP; Francesca Morgante MD, PhD; Sirisha Nandipati MD; Thomas Opladen MD; Mahesh Padmanaban MD; Micaela Pauni MD; Gianni Pezzoli MD; Amelie Piton PhD; Francis Ramond MD, PhD; Giulietta M. Riboldi MD, PhD; Christelle Rougeot-Jung MD; Fernando Santos-Simarro MD, PhD; Ingrid E. Scheffer MBBS, PhD; Naoual Serari M2; Christine M. Stahl MD; Ann Stembridge Kung MS; Susana Tarongí Sanchez MD; Christel Thauvin-Robinet MD, PhD; Marianne Till MD; Christine Tranchant MD, PhD; Christopher Troedson MBBS, FRACP; Thomas F. Tropea DO, MPH; Olivier Vanakker MD, PhD; Patricia Vega MD; Maxi Leona Wiese MD; Udo Wieshmann MD, PhD, FRCP; Laura J. Williams MB BCh BAO, MD; Thomas Wirth MD; Michael Zech MD; Hans Zempel MD, PhD; Emmanuel Roze MD, PhD; Vincenzo Leuzzi MD; Serena Galosi MD, PhD; Victor S. C. Fung PhD, FRACP; Gemma Carvill PhD; Dimitri Krainc MD, PhD; Elizabeth Gerard MD; Niccolò E. Mencacci MD, PhD
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Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD
err2024-12-02
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PREAI
errVendrell, Xavier; Abuli, Anna; Serra, Clara; Guillen, Juan Jose; Rueda, Joaquin; Garcia-Planells, Javier; Santos-Simarro, Fernando; Quiroga, Ramiro; Abellan, Fernando; Oancea-Ionescu, Raluca; Guillen-Navarro, Encarna
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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
err2024-07-01
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errHaghshenas, Sadegheh; Bout, Hidde J.; Schijns, Josephine M.; Levy, Michael A.; Kerkhof, Jennifer; Bhai, Pratibha; Mcconkey, Haley; Jenkins, Zandra A.; Williams, Ella M.; Halliday, Benjamin J.; Huisman, Sylvia A.; Lauffer, Peter; de Waard, Vivian; Witteveen, Laura; Banka, Siddharth; Brady, Angela F.; Galazzi, Elena; van Gils, Julien; Hurst, Anna C. E.; Kaiser, Frank J.; Lacombe, Didier; Martinez-Monseny, Antonio F.; Fergelot, Patricia; Monteiro, Fabiola P.; Parenti, Ilaria; Persani, Luca; Santos-Simarro, Fernando; Simpson, Brittany N.; Alders, Marielle; Robertson, Stephen P.; Sadikovic, Bekim; Menke, Leonie A.
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Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
err2024-06-01
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PREAI
errPalma-Milla, Carmen; Prat-Planas, Aina; Soengas-Gonda, Emma; Centeno-Pla, Monica; Sanchez-Pozo, Jaime; Lazaro-Rodriguez, Irene; Quesada-Espinosa, Juan F.; Arteche-Lopez, Ana; Olival, Jonathan; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Cancho-Candela, Ramon; Vazquez-Lopez, Maria; Seidel, Veronica; Martinez-Monseny, Antonio F.; Casas-Alba, Didac; Grinberg, Daniel; Balcells, Susanna; Serrano, Mercedes; Rabionet, Raquel; Martin, Miguel A.; Urreizti, Roser
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Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
err2024-03-12
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errLacombe, Didier; Bloch-Zupan, Agnes; Bredrup, Cecilie; Cooper, Edward B.; Houge, Sofia Douzgou; Garcia-Minaur, Sixto; Kayserili, Hulya; Larizza, Lidia; Gonzalez, Vanesa Lopez; Menke, Leonie A.; Milani, Donatella; Saettini, Francesco; Stevens, Cathy A.; Tooke, Lloyd; van der Zee, Jill A.; Van Genderen, Maria M.; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia H. M.; Cueto-Gonzalez, Anna M.; Dominguez-Garrido, Elena; Duijkers, Floor A.; Fergelot, Patricia; Halstead, Elisabeth; Huisman, Sylvia A.; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah M.; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Pena, Rebecca Rodriguez; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany N.; Smith, David F.; Stevens, Markus F.; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Palafoll, Irene Valenzuena; van der Kaay, Danielle C. M.; Van Wijk, Michiel P.; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul C.
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Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment
err2023-07-29
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errCarcavilla, Atilano; Cambra, Ana; Santome, Jose L.; Seidel, Veronica; Cruz, Jaime; Alonso, Milagros; Pozo, Jesus; Valenzuela, Irene; Guillen-Navarro, Encarna; Santos-Simarro, Fernando; Gonzalez-Casado, Isabel; Rodriguez, Amparo; Medrano, Constancio; Lopez-Siguero, Juan Pedro; Ezquieta, Begona
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YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
err2023-07-01
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errDenomme-Pichon, Anne-Sophie; Collins, Stephan C.; Bruel, Ange-Line; Mikhaleva, Anna; Wagner, Christel; Vancollie, Valerie E.; Thomas, Quentin; Chevarin, Martin; Weber, Mathys; Prada, Carlos E.; Overs, Alexis; Palomares-Bralo, Marta; Santos-Simarro, Fernando; Pacio-Miguez, Marta; Busa, Tiffany; Legius, Eric; Bacino, Carlos A.; Rosenfeld, Jill A.; Le Guyader, Gwenael; Egloff, Matthieu; Le Guillou, Xavier; Mencarelli, Maria Antonietta; Renieri, Alessandra; Grosso, Salvatore; Levy, Jonathan; Dozieres, Blandine; Desguerre, Isabelle; Vitobello, Antonio; Duffourd, Yannis; Lelliott, Christopher J.; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence; Yalcin, Binnaz
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Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
err2023-03-15
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errMaghnie, Mohamad; Semler, Oliver; Guillen-Navarro, Encarna; Selicorni, Angelo; Heath, Karen E.; Haeusler, Gabriele; Hagenaes, Lars; Merker, Andrea; Leiva-Gea, Antonio; Lopez Gonzalez, Vanesa; Raimann, Adalbert; Rehberg, Mirko; Santos-Simarro, Fernando; Ertl, Diana-Alexandra; Gregersen, Pernille Axel; Onesimo, Roberta; Landfeldt, Erik; Jarrett, James; Quinn, Jennifer; Rowell, Richard; Pimenta, Jeanne; Cohen, Shelda; Butt, Thomas; Shediac, Renee; Mukherjee, Swati; Mohnike, Klaus
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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
err2023-02-07
err12
PREAI
errAerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde
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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort (vol 24, pg 1753, 2022)
err2023-02-01
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errvan der Sluijs, Pleuntje J.; Joosten, Marieke; Alby, Caroline; Attie-Bitach, Tania; Gilmore, Kelly; Dubourg, Christele; Fradin, Melanie; Wang, Tianyun; Kurtz-Nelson, Evangeline C.; Ahlers, Kaitlyn P.; Arts, Peer; Barnett, Christopher P.; Ashfaq, Myla; Baban, Anwar; van den Born, Myrthe; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia; Carriero, Miriam; Cesario, Claudia; Chong, Karen; Cueto-Gonzalez, Anna Maria; Dempsey, Jennifer C.; Diderich, Karin E. M.; Doherty, Dan; Farholt, Stense; Gerkes, Erica H.; Gorokhova, Svetlana; Govaerts, Lutgarde C. P.; Gregersen, Pernille A.; Hickey, Scott E.; Lefebvre, Mathilde; Mari, Francesca; Martinovic, Jelena; Northrup, Hope; O'Leary, Melanie; Parbhoo, Kareesma; Patrier, Sophie; Popp, Bernt; Santos-Simarro, Fernando; Stoltenburg, Corinna; Thauvin-Robinet, Christel; Thompson, Elisabeth; Vulto-van Silfhout, Anneke T.; Zahir, Farah R.; Scott, Hamish S.; Earl, Rachel K.; Eichler, Evan E.; Vora, Neeta L.; Wilnai, Yael; Giordano, Jessica L.; Wapner, Ronald J.; Rosenfeld, Jill A.; Haak, Monique C.; Santen, Gijs W. E.
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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
err2022-11-29
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errMartinez-Cayuelas, Elena; Blanco-Kelly, Fiona; Lopez-Grondona, Fermina; Swafiri, Saoud Tahsin; Lopez-Rodriguez, Rosario; Losada-Del Pozo, Rebeca; Mahillo-Fernandez, Ignacio; Moreno, Beatriz; Rodrigo-Moreno, Maria; Casas-Alba, Didac; Lopez-Gonzalez, Aitor; Garcia-Minaur, Sixto; Mori, Maria Angeles; Pacio-Minguez, Marta; Rikeros-Orozco, Emi; Santos-Simarro, Fernando; Cruz-Rojo, Jaime; Quesada-Espinosa, Juan Francisco; Sanchez-Calvin, Maria Teresa; Sanchez-Del Pozo, Jaime; Fonz, Raquel Bernado; Isidoro-Garcia, Maria; Ruiz-Ayucar, Irene; Alvarez-Mora, Maria Isabel; Blanco-Lago, Raquel; De Azua, Begona; Eiris, Jesus; Garcia-Penas, Juan Jose; Gil-Fournier, Belen; Gomez-Lado, Carmen; Irazabal, Nadia; Lopez-Gonzalez, Vanessa; Madrigal, Irene; Malaga, Ignacio; Martinez-Menendez, Beatriz; Ramiro-Leon, Soraya; Garcia-Hoyos, Maria; Prieto-Matos, Pablo; Lopez-Pison, Javier; Aguilera-Albesa, Sergio; Alvarez, Sara; Fernandez-Jaen, Alberto; Llano-Rivas, Isabel; Gener-Querol, Blanca; Ayuso, Carmen; Arteche-Lopez, Ana; Palomares-Bralo, Maria; Cueto-Gonzalez, Anna; Valenzuela, Irene; Martinez-Monseny, Antonio; Lorda-Sanchez, Isabel; Almoguera, Berta
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
err2022-11-01
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errKayumi, Sayaka; Perez-Jurado, Luis A.; Palomares, Maria; Rangu, Sneha; Sheppard, Sarah E.; Chung, Wendy K.; Kruer, Michael C.; Kharbanda, Mira; Amor, David J.; McGillivray, George; Cohen, Julie S.; Garcia-Minaur, Sixto; van Eyk, Clare L.; Harper, Kelly; Jolly, Lachlan A.; Webber, Dani L.; Barnett, Christopher P.; Santos-Simarro, Fernando; Pacio-Miguez, Marta; del Pozo, Angela; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A.; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R.; Bhoj, Elizabeth J.; Li, Dong; Ortiz-Gonzalez, Xilma R.; Keena, Beth; Zackai, Elaine H.; Goldberg, Ethan M.; de Nanclares, Guiomar Perez; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernandez-Cuesta, Maria Angeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L.; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E.; Stegmann, Alexander P. A.; Sinnema, Margje; Stevens, Servi C. J.; Nicolai, Joost; Lesca, Gaetan; Lion-Francois, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W.; Procopio, Rebecca A.; Millan, Francisca; Morrow, Michelle M.; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J.; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H.; Gecz, Jozef; Corbett, Mark A.
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Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
err2022-08-21
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errLevy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, Maria Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S.; Cherick, Florian; Foroutan, Aidin; Friez, Michael J.; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A.; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J.; Maitz, Silvia; Milani, Donatella; Morgan, Angela T.; Oegema, Renske; Ostergaard, Elsebet; Pallares, Nathalie R.; Piccione, Maria; Plomp, Astrid S.; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W. E.; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella M.; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J.; Vergano, Samantha A.; Vos, Niels; Walden, Kellie K.; Azmanov, Dimitar; Balci, Tugce B.; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A.; Mannens, Marcel M. A. M.; Roscioli, Tony; Siu, Victoria; Amor, David J.; Baynam, Gareth; Bend, Eric G.; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M.; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A.; Fleming, Mark D.; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D.; McNeill, Alisdair; Menke, Leonie A.; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A.; Stevenson, Roger E.; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L.; Sadikovic, Bekim
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PIGN encephalopathy: Characterizing the epileptology
err2022-02-18
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errBayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G.
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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
err2022-01-01
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errLevy, Michael A.; McConkey, Haley; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; Fletcher, Robin S.; Cherik, Florian; Foroutan, Aidin; Friez, Michael J.; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A.; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J.; Maitz, Silvia; Milani, Donatella; Morgan, Angela T.; Oegema, Renske; Ostergaard, Elsebet; Pallares, Nathalie Ruiz; Piccione, Maria; Pizzi, Simone; Plomp, Astrid S.; Poulton, Cathryn; Reilly, Jack; Relator, Raissa; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W. E.; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella Maria; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J.; Vergano, Samantha A.; Vos, Niels; Walden, Kellie K.; Azmanov, Dimitar; Balci, Tugce; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A.; Mannens, Marcel M. A. M.; Roscioli, Tony; Siu, Victoria; Amor, David J.; Baynam, Gareth; Bend, Eric G.; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M.; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A.; Fleming, Mark D.; Genevieve, David; Kerrnohan, Kristin D.; McNeill, Alisdair; Menke, Leonie A.; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A.; Stevenson, Roger E.; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L.; Sadikovic, Bekim
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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
err2021-12-11
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errKumble, Smitha; Levy, Amanda M.; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane-Yeboa, Kwame; Benke, Paul J.; Berger, Sara M.; Bjerglund, Lise; Campos-Xavier, Belinda; Ciliberto, Michael; Cohen, Julie S.; Comi, Anne M.; Curry, Cynthia; Damaj, Lena; Denomme-Pichon, Anne-Sophie; Emrick, Lisa; Faivre, Laurence; Fasano, Mary Beth; Fievet, Alice; Finkel, Richard S.; Garcia-Minaur, Sixto; Gerard, Amanda; Gomez-Puertas, Paulino; Guillen Sacoto, Maria J.; Hoffman, Trevor L.; Howard, Lillian; Iglesias, Alejandro D.; Izumi, Kosuke; Larson, Austin; Leiber, Anja; Lozano, Reymundo; Marcos-Alcalde, Inigo; Mintz, Cassie S.; Mullegama, Sureni V.; Moller, Rikke S.; Odent, Sylvie; Oppermann, Henry; Ostergaard, Elsebet; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Paulson, Anna M.; Platzer, Konrad; Posey, Jennifer E.; Potocki, Lorraine; Revah-Politi, Anya; Rio, Marlene; Ritter, Alyssa L.; Robinson, Scott; Rosenfeld, Jill A.; Santos-Simarro, Fernando; Sousa, Sergio B.; Weber, Mathys; Xie, Yili; Chung, Wendy K.; Brown, Natasha J.; Tumer, Zeynep
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