Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission") by Kirk, Edwin P, Ong, Royston, Boggs, Kirsten, Hardy, Tristan, Righetti, Sarah, Kamien, Ben, Roscioli, Tony, Amor, David J, Bakshi, Madhura, Chung, Clara W T, Colley, Alison, Jamieson, Robyn V, Liebelt, Jan, Ma, Alan, Pachter, Nicholas, Rajagopalan, Sulekha, Ravine, Anja, Wilson, Meredith, Caruana, Jade, Casella, Rachael, Davis, Mark, Edwards, Samantha, Archibald, Alison, McGaughran, Julie, Newson, Ainsley J, Laing, Nigel G, Delatycki, Martin B

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Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome by Dagar, Vinod, Hutchison, Wendy, Muscat, Andrea, Krishnan, Anita, Hoke, David, Buckle, Ashley, Siswara, Priscillia, Amor, David J, Mann, Jeffrey, Pinner, Jason, Colley, Alison, Wilson, Meredith, Sachdev, Rani, McGillivray, George, Edwards, Matthew, Kirk, Edwin, Collins, Felicity, Jones, Kristi, Taylor, Juliet, Hayes, Ian, Thompson, Elizabeth, Barnett, Christopher, Haan, Eric, Freckmann, Mary-Louise, Turner, Anne, White, Susan, Kamien, Ben, Ma, Alan, Mackenzie, Fiona, Baynam, Gareth, Kiraly-Borri, Cathy, Field, Michael, Dudding-Byth, Tracey, Algar, Elizabeth M

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16p13.11 Microdeletion in a Patient With Hemiconvulsion-Hemiplegia-Epilepsy Syndrome: A Case Report by Miteff, Christina I., Smith, Robert L., Bain, Nicole L., Subramanian, Gopinath, Brown, Janis E., Kamien, Ben

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Handbook of Paediatrics by Kamien, Ben

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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia by Zambonin, Jessica L, Bellomo, Allison, Ben-Pazi, Hilla, Everman, David B, Frazer, Lee M, Geraghty, Michael T, Harper, Amy D, Jones, Julie R, Kamien, Benjamin, Kernohan, Kristin, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R, Gibbons, Melissa, Collins, Abigail, Fogel, Brent L, Dudding-Byth, Tracy, Boycott, Kym M

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DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A / KAT6B variants by Vos, Niels, Reilly, Jack, Elting, Mariet W, Campeau, Philippe M, Coman, David, Stark, Zornitza, Tan, Tiong Yang, Amor, David J, Kaur, Simran, StJohn, Miya, Morgan, Angela T, Kamien, Benjamin A, Patel, Chirag, Tedder, Matthew L, Merla, Giuseppe, Prontera, Paolo, Castori, Marco, Muru, Kai, Collins, Felicity, Christodoulou, John, Smith, Janine, Zeev, Bruria Ben, Murgia, Alessandra, Leonardi, Emanuela, Esber, Natacha, Martinez-Monseny, Antonio, Casas-Alba, Didac, Wallis, Matthew, Mannens, Marcel, Levy, Michael A, Relator, Raissa, Alders, Marielle, Sadikovic, Bekim

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Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy by Kamien, Benjamin, Harraway, James, Lundie, Ben, Smallhorne, Lex, Gibbs, Vicki, Heath, Anna, Fullerton, Janice M.

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Characterization of a 520kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy by Kamien, Benjamin, Harraway, James, Lundie, Ben, Smallhorne, Lex, Gibbs, Vicki, Heath, Anna, Fullerton, Janice M

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Characterization of a 520kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy: Additional informatio... by Kamien, Benjamin, Harraway, James, Lundie, Ben, Smallhorne, Lex, Gibbs, Vicki, Heath, Anna, Fullerton, Janice M

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Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A) by Kaur, Simranpreet, Van Bergen, Nicole J., Ben-Zeev, Bruria, Leonardi, Emanuela, Tan, Tiong Y., Coman, David, Kamien, Benjamin, White, Susan M., St John, Miya, Phelan, Dean, Rigbye, Kristin, Lim, Sze Chern, Torres, Michelle C., Marty, Melanie, Savva, Elena, Zhao, Teresa, Massey, Sean, Murgia, Alessandra, Gold, Wendy A., Christodoulou, John

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Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy: Additional informati... by Kamien, Benjamin, Harraway, James, Lundie, Ben, Smallhorne, Lex, Gibbs, Vicki, Heath, Anna, Fullerton, Janice M.

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Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy: additional informati... by Kamien, Benjamin, Harraway, James, Lundie, Ben, Smallhorne, Lex, Gibbs, Vicki, Heath, Anna, Fullerton, Janice M

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