Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases von Díaz‐González, Francisca, Parrón‐Pajares, Manuel, Lucas‐Castro, Elsa, Modamio‐Høybjør, Silvia, Sentchordi‐Montané, Lucia, Seidel, Verónica, Prieto, Pablo, Tarraso‐Urios, Guillermo, Codina‐Sola, Marta, Cueto‐González, Anna M., Ballesta‐Martínez, Mary J., Santos‐Simarro, Fernando, Sousa, Sergio B., Heath, Karen E.

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Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient von Cueto-González, Anna M., Fernández-Cancio, Mónica, Fernández-Alvarez, Paula, García-Arumí, Elena, Tizzano, Eduardo F.

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Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier–Gorlin syndrome variant von Mehrjoo, Yosra, Campeau, Philippe M., Al Abdi, Lama, Aldowaish, Abdullah, Abouyousef, Omar, Alkuraya, Fowzan S., Codina‐Solà, Marta, Cueto‐González, Anna M., Wurtele, Hugo

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Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome von Shaheen, Ranad, Aglan, Mona, Keppler-Noreuil, Kim, Faqeih, Eissa, Ansari, Shinu, Horton, Kim, Ashour, Adel, Zaki, Maha S., Al-Zahrani, Fatema, Cueto-González, Anna M., Abdel-Salam, Ghada, Temtamy, Samia, Alkuraya, Fowzan S.

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New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder von Szot, Justin O., Slavotinek, Anne, Chong, Karen, Brandau, Oliver, Nezarati, Marjan, Cueto‐González, Anna M., Patel, Millan S., Devine, Walter P., Rego, Shannon, Acyinena, Alicia P., Shannon, Patrick, Myles‐Reid, Diane, Blaser, Susan, Mieghem, Tim V., Yavuz‐Kienle, Halenur, Skladny, Heyko, Miller, Kristen, Riera, Miereia D. T., Martínez, Silvia A., Tizzano, Eduardo F., Dupuis, Lucie, James Stavropoulos, Dimitri, McNiven, Vanda, Mendoza‐Londono, Roberto, Elliott, Alison M., Phillips, Robert S., Chapman, Gavin, Dunwoodie, Sally L.

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Correspondence on “Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype” by Zanoni et al... von Cueto-González, Anna Ma, Fernández-Álvarez, Paula, Palafoll, Irene Valenzuela, Lasa-Aranzasti, Amaia, Vendrell Bayona, Teresa, Tizzano, Eduardo F.

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Living in Limbo: Aspiration-attainment Gap, Occupational Health Risks, and Intergenerational Mobility of Mexican Origin Migrant Farm Workers in El Paso, Texas von Paat, Yok Fong, Saucedo, Carlos Marentes, Rojas, Rosemary, Muñoz, Jennifer, Molina, Alexis Andrea, Yoshimoto, Mitsue, Sanchez, Sheralyn, Gonzalez, Anna M., De La Hoya, Rosemarie

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Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease von Grenier, Celine, Lopes, Filipa M., Cueto-González, Anna M., Rovira-Moreno, Eulàlia, Gander, Romy, Jarvis, Benjamin W., McCloskey, Karen D., Gurney, Alison M., Beaman, Glenda M., Newman, William G., Woolf, Adrian S., Roberts, Neil A.

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Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain) von Martin‐Nalda, Andrea, Cueto‐González, Anna M., Argudo‐Ramírez, Ana, Marin‐Soria, Jose L., Martinez‐Gallo, Monica, Colobran, Roger, Plaja, Albert, Castells, Neus, Riviere, Jacques, Tizzano, Eduardo F., Soler‐Palacin, Pere

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Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis von Castells-Sarret, Neus, Cueto-González, Anna M, Borregan, Mar, López-Grondona, Fermina, Miró, Rosa, Tizzano, Eduardo, Plaja, Alberto

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A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region von Plaja, Alberto, Castells, Neus, Cueto-González, Anna M., del Campo, Miguel, Vendrell, Teresa, Lloveras, Elisabet, Izquierdo, Luis, Borregan, Mar, Rodríguez-Santiago, Benjamín, Carrió, Anna, Miró, Rosa, Tizzano, Eduardo

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PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants von Grimes, H, Ansari, M, Ashraf, T, Cueto-González, Anna Mª, Calder, A, Day, M, Fernandez Alvarez, P, Foster, A, Lahiri, N, Repetto, G M, Scurr, I, Varghese, V, Low, Karen J

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Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio von Castells-Sarret, Neus, Cueto-González, Anna M, Borregan, Mar, López-Grondona, Fermina, Miró, Rosa, Tizzano, Eduardo, Plaja, Alberto

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Implications of sleep-disordered breathing in pregnancy von Facco, Francesca L., MD, Ouyang, David W., MD, Zee, Phyllis C., MD, PhD, Strohl, Anna E., MD, Gonzalez, Anna B., MD, Lim, Courtney, MD, Grobman, William A., MD, MBA

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Perinatal and obstetric outcomes of dichorionic vs trichorionic triplet pregnancies von Lopes Perdigao, Joana, MD, Straub, Heather, MD, Zhou, Ying, PhD, Gonzalez, Anna, MD, Ismail, Mahmoud, MD, Ouyang, David W., MD

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Elevated neonatal insulin-like growth factor I is associated with fetal hypertrophic cardiomyopathy in diabetic women von Gonzalez, Anna B., MD, Young, Luciana, MD, Doll, Jennifer A., PhD, Morgan, Gina M., MS, Crawford, Susan E., MD, Plunkett, Beth A., MD, MPH

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Amiodarone Induced Thyrotoxicosis: Should Surgery Always Be Delayed? von Ferreira, Nuno, MD, Arbelaez, Alejandro, MD, Gonzalez, Anna, MD, Roca, Marius, MD

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Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement von Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B, Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, 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-González, Anna M, Dominguez-Garrido, Elena, Duijkers, Floor A, Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A, Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M, Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N, Smith, David F, Stevens, Markus F, Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M, Van Wijk, Michiel P, Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C

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Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient von Cueto-González, Anna M, Fernández-Cancio, Mónica, Fernández-Alvarez, Paula, García-Arumí, Elena, Tizzano, Eduardo F

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Comparative genomic hybridisation as a first option in genetic diagnosis: 1000 cases and a cost–benefit analysis von Castells-Sarret, Neus, Cueto-González, Anna M., Borregan, Mar, López-Grondona, Fermina, Miró, Rosa, Tizzano, Eduardo, Plaja, Alberto

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