Sensory processing in 16p11.2 deletion and 16p11.2 duplication
Smith, Harriet, Lane, Chloe, Al‐Jawahiri, Reem, Freeth, Megan
Published in Autism research (01.11.2022)
Published in Autism research (01.11.2022)
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Speech, language and communication phenotyping in rare genetic syndromes: Commentary on Speech and language deficits are central to SETBP1 haploinsufficiency disorder
Freeth, Megan, Al-Jawahiri, Reem, Smith, Harriet, Stokes, Louis
Published in European journal of human genetics : EJHG (01.08.2021)
Published in European journal of human genetics : EJHG (01.08.2021)
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Short report: Behavioural characterisation of SOX11 syndrome
Al-Jawahiri, Reem, Stokes, Louis, Smith, Harriet, McNeill, Alisdair, Freeth, Megan
Published in Research in developmental disabilities (01.12.2023)
Published in Research in developmental disabilities (01.12.2023)
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Sensory processing in Sotos syndrome and Tatton-Brown-Rahman Syndrome
Smith, Harriet, Lane, Chloe, Al-Jawahiri, Reem, Freeth, Megan
Published in Journal of psychopathology and clinical science (Print) (01.08.2023)
Published in Journal of psychopathology and clinical science (Print) (01.08.2023)
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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
Al-Jawahiri, Reem, Foroutan, Aidin, McConkey, Haley, Levy, Michael, Haghshenas, Sadegheh, Rooney, Kathleen, Turner, Jasmin, Shears, Debbie, Holder, Muriel, Lefroy, Henrietta, Castle, Bruce, Reis, Linda M., Semina, Elena V., Nickerson, Deborah, Bamshad, Michael, Leal, Suzanne, Lachlan, Katherine, Chandler, Kate, Clayton-Smith, Jill, Hug, Franziska Phan, Pitteloud, Nelly, Bartoloni, Lucia, Hoffjan, Sabine, Park, Soo-Mi, Thankamony, Ajay, Lees, Melissa, Wakeling, Emma, Naik, Swati, Hanker, Britta, Girisha, Katta M., Agolini, Emanuele, Giuseppe, Zampino, Alban, Ziegler, Tessarech, Marine, Keren, Boris, Afenjar, Alexandra, Zweier, Christiane, Smol, Thomas, Nobuhiko, Okamoto, Sekiguchi, Futoshi, Tsuchida, Naomi, Matsumoto, Naomichi, Kou, Ikuyo, Yonezawa, Yoshiro, Ikegawa, Shiro, Callewaert, Bert, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., FionaMaleady-Crowe, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pullinger, John, Rendon, Augusto, TimRogers, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Williams, Eleanor, Kleinendorst, Lotte, Donaldson, Alan, Alders, Marielle, De Paepe, Anne, Sadikovic, Bekim, McNeill, Alisdair
Published in Genetics in medicine (01.06.2022)
Published in Genetics in medicine (01.06.2022)
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