Hynes, Kim, Tarpey, Patrick, Haan, Eric, Turner, Gillian, Christodoulou, John, Leonard, Helen, Gill, Deepak, Stratton, Michael R., Gecz, Jozef, Scheffer, Ingrid E., Dibbens, Leanne M., Bayly, Marta A., Berkovic, Samuel F., Smith, Raffaella, Al Raisi, Zahyia, Turner, Samantha J., Brown, Natasha J., Desai, Tarishi D.. British Medical Association; 2010. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.

Mackay, Jessica, Nixon, Gillian M., Vora, Komal, Crock, Patricia, Verge, Charles, Musthaffa, Yassmin, Blecher, Greg, Caudri, Daan, Leonard, Helen, Jacoby, Peter, Wilson, Andrew, Choong, Catherine S., Lafferty, Antony R., Downs, Jenny, Ambler, Geoff, Kapur, Nitin, Bergman, Philip B., Schofield, Cara, Seton, Chris, Tai, Andrew, Tham, Elaine. Springer; 2022. Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study.

Mackay, Jessica, McCallum, Zoe, Ambler, Geoffrey R., Vora, Komal, Nixon, Gillian, Bergman, Philip, Shields, Nora, Milner, Kate, Kapur, Nitin, Crock, Patricia, Caudri, Daan, Curran, Jaqueline, Verge, Charles, Seton, Chris, Tai, Andrew, Tham, Elaine, Musthaffa, Yassmin, Lafferty, Antony R., Blecher, Greg, Harper, Jessica, Schofield, Cara, Nielsen, Aleisha, Wilson, Andrew, Leonard, Helen, Choong, Catherine S., Downs, Jenny. Wiley-Blackwell Publishing; 2019. Requirements for improving health and well-being of children with Prader-Willi syndrome and their families.

Choong, Catherine S., Nixon, Gillian M., Schofield, Cara, Seton, Chris, Tai, Andrew, Tham, Elaine, Vora, Komal, Crock, Patricia, Verge, Charles, Musthaffa, Yassmin, Blecher, Greg, Wilson, Andrew, Blackmore, A. Marie, Downs, Jenny, Chen, Wai, Jacoby, Peter, Leonard, Helen, Lafferty, Antony R., Ambler, Geoff, Kapur, Nitin, Bergman, Philip B.. Springer; 2022. Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome.