P154: A truncating variant in RFX7 causing developmental delay and intellectual disability

by Attila Dos Santos, Talia Sisroe, Dong Li, Elizabeth Bhoj, Beverly Nelson, Andrew Sobering
Published 2023-01-01

Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation

by Nester Mitchell, Gaynel A. LaTouche, Beverly Nelson, Karla P. Figueroa, Ruth H. Walker, Andrew K. Sobering
Published 2019-09-01

Sickle cell disease in Grenada: Quality of life and barriers to care

by Alyssa Grygiel, Felicia Ikolo, Raphielle Stephen, Dawnell Bleasdille, Patricia Robbins‐Furman, Beverly Nelson, Andrew K. Sobering, Sarah H. Elsea
Published 2021-01-01

P312: Expanding the phenotypic description and allelic heterogeneity of the KAT6B-related disorder

by Kadesh Daniels, Sarah Board, Courtney Brown, Dima Qu’d, Beverly Nelson, Dong Li, Elizabeth Bhoj, Brittany Simpson, Andrew Sobering
Published 2023-01-01

P325: A homozygous novel pathogenic variant in SYNJ1 and its clinical presentation

by Christie Taylor, Mary Maj, Kevin Landau, Dong Li, Elizabeth Bhoj, Helga Toriello, Beverly Nelson, Sarah Gluschitz, Ruth Walker, Andrew Sobering
Published 2023-01-01

Children and the coronavirus disease 2019 pandemic: a Caribbean perspective

by Tracy Evans-Gilbert, Paula Michele Lashley, Emmeline Lerebours, Corrine Sin Quee, Indira Singh-Minott, Maritza Fernandes, Joycelyn Walter Thomas, Beverly Nelson, Jozan Braithwaite, Ian Hambleton
Published 2022-08-01

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay

by Giavanna Verdi, Dong Li, Sarah H. Elsea, Beverly Nelson, Elizabeth J. Bhoj, Hakon Hakonarson, Katherine R. Yearwood, Sharmila Upadhya, Sarah Gluschitz, Janice L. Smith, Andrew K. Sobering
Published 2022-04-01

A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual

by Mary Maj, Christie L. Taylor, Kevin Landau, Helga V. Toriello, Dong Li, Elizabeth J. Bhoj, Hakon Hakonarson, Beverly Nelson, Sarah Gluschitz, Ruth H. Walker, Andrew K. Sobering
Published 2023-01-01

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family

by Wayne Thompson, Patrick Z. Carey, Tyhiesia Donald, Beverly Nelson, Elizabeth J. Bhoj, Dong Li, Hakon Hakonarson, Maricela Ramirez, Sarah H. Elsea, Janice L. Smith, John C. Carey, Andrew K. Sobering
Published 2020-08-01

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

by Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj
Published 2022-07-01

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

by Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj
Published 2023-01-01