Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication
Badar, Sidrah A, Breman, Amy M, Christensen, Celanie K, Graham, Brett H, Golomb, Meredith R
Published in Cytogenetic and genome research (01.06.2022)
Published in Cytogenetic and genome research (01.06.2022)
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Updated consensus guidelines on the management of Phelan–McDermid syndrome
Srivastava, Siddharth, Sahin, Mustafa, Buxbaum, Joseph D., Berry‐Kravis, Elizabeth, Soorya, Latha Valluripalli, Thurm, Audrey, Bernstein, Jonathan A., Asante‐Otoo, Afua, Bennett, William E., Betancur, Catalina, Brickhouse, Tegwyn H., Passos Bueno, Maria Rita, Chopra, Maya, Christensen, Celanie K., Cully, Jennifer L., Dies, Kira, Friedman, Kate, Gummere, Brittany, Holder, J. Lloyd, Jimenez‐Gomez, Andres, Kerins, Carolyn A., Khan, Omar, Kohlenberg, Teresa, Lacro, Ronald V., Levi, Lori A., Levy, Tess, Linnehan, Diane, Eva, Loth, Moshiree, Baharak, Neumeyer, Ann, Paul, Scott M., Phelan, Katy, Persico, Antonio, Rapaport, Robert, Rogers, Curtis, Saland, Jeffrey, Sethuram, Swathi, Shapiro, Janine, Tarr, Phillip I., White, Kerry M., Wickstrom, Jordan, Williams, Kent M., Winrow, Dana, Wishart, Brian, Kolevzon, Alexander
Published in American journal of medical genetics. Part A (01.08.2023)
Published in American journal of medical genetics. Part A (01.08.2023)
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Journal Article
It's Not Just a Vitamin: Comment on “Rise in Late Onset Vitamin K Deficiency Bleeding in Young Infants Because of Omission or Refusal of Prophylaxis at Birth” by Schulte and Colleagues
Christensen, Celanie K., MS, MD, Golomb, Meredith R., MD, MSc
Published in Pediatric neurology (01.03.2015)
Published in Pediatric neurology (01.03.2015)
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Journal Article
P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature
Booth, Kevin, Jangam, Sharayu, Man Chun Chui, Martin, Treat, Kayla, Graziani, Lorenzo, Soldano, Alessia, White, Kerry, Christensen, Celanie, Lynnes, Ty, Yamamoto, Shinya, Kanca, Oguz, Tsang, Mandy, Lynch, Sally, Mullegama, Sureni, Baptista, Julia, Iancu, Daniela, Joss, Shelag, CY Mak, Christopher, Kwong, Anna, Bellen, Hugo, Conboy, Erin, Sanges, Remo, Wangler, Michael F., Hon-Yin Chung, Brian, Vetrini, Francesco
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder
McCann, Marcia V, Pongonis, Stephen J, Golomb, Meredith R, Edwards-Brown, Mary, Christensen, Celanie K, Sokol, Deborah K
Published in Journal of child neurology (01.08.2008)
Published in Journal of child neurology (01.08.2008)
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Health Supervision for Children and Adolescents With Down Syndrome
Bull, Marilyn J, Trotter, Tracy, Santoro, Stephanie L, Christensen, Celanie, Grout, Randall W, Burke, Leah W, Berry, Susan A, Geleske, Timothy A, Holm, Ingrid, Hopkin, Robert J, Introne, Wendy J, Lyons, Michael J, Monteil, Danielle C, Scheuerle, Angela, Stoler, Joan M, Vergano, Samantha A, Chen, Emily, Hamid, Rizwan, Downs, Stephen M, Grout, Randall W, Cunniff, Christopher, Parisi, Melissa A, Ralston, Steven J, Scott, Joan A, Shapira, Stuart K, Spire, Paul
Published in Pediatrics (Evanston) (01.05.2022)
Published in Pediatrics (Evanston) (01.05.2022)
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Journal Article
Clinical findings in Pelizaeus-Merzbacher disease
Golomb, Meredith R, Walsh, Laurence E, Carvalho, Karen S, Christensen, Celanie K, DeMyer, William E
Published in Journal of child neurology (01.05.2004)
Published in Journal of child neurology (01.05.2004)
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A child with Friedreich's ataxia and epilepsy
Golomb, Meredith R, Illner, Anna, Christensen, Celanie K, Walsh, Laurence E
Published in Journal of child neurology (01.03.2005)
Published in Journal of child neurology (01.03.2005)
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eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia
Treat, Kayla, Jangam, Sharayu, Yamamoto, Shinya, White, Kerry, Kanca, Oguz, Christensen, Celanie, Lynch, Sally, Baptista, Julia, Tsang, Mandy HY, Jay, Kristy, Chung, Brian HY, Yuen, Liz YP, Chui, Martin MC, Bellen, Hugo, Wangler, Michael, Conboy, Erin, Vetrini, Francesco
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article
Clinical and cytogenetic manifestations of subtelomeric aberrations: Report of six cases
Font-Montgomery, Esperanza, Weaver, David D, Walsh, Laurence, Christensen, Celanie, Thurston, Virginia C
Published in Birth defects research. A Clinical and molecular teratology (01.06.2004)
Published in Birth defects research. A Clinical and molecular teratology (01.06.2004)
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