Ebba Alkhunaizi

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 16

Top Topics

Mitochondrial Dna

Muscular Dystrophy

Spinal Cord Injury

Top Venues

American journal of medical genetics. Part A

Disease models & mechanisms

This page only lists publications with an associated author ORCID identifier.

Publications

Sara A Lewis, Somayeh Bakhtiari, Jacob Forstrom, Carolina Alvarez, Frederic Bilan, Gwenaël Le Guyader, Ebba Alkhunaizi, Hilary J Vernon, Sergio R Padilla-Lopez, Michael C Kruer
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder. Disease models & mechanisms (2023)
Amanda L Thomas, John P Schacht, David Chitayat, Susan Blaser, Francis Jeshira Reynoso Santos, Kimberly Glaser, Alesky Caffo, Ingrid M Wentzensen, Lindsay B Henderson, Futao Zhang, Ying Zhu, Ellen Di Corleto, Fabrício da Silva Costa, Rebecca Vink, Ebba Alkhunaizi, Laura Russell, Michael F Buckley, Tony Roscioli, Elaine Maria Pereira, Mythily Ganapathi
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review. American journal of medical genetics. Part A (2023)
Ebba Alkhunaizi, Jenna Plamondon Albrecht, Mahmoud Aarabi, Selma F Witchel, Diane Wherrett, Riyana Babul-Hirji, Annie Dupuis, Lyne Chiniara, Eric Chater-Diehl, Mary Shago, Cheryl Shuman, Aleksandar Rajkovic, Svetlana A Yatsenko, David Chitayat
45,X/46,XY mosaicism: Clinical manifestations and long term follow-up. American journal of medical genetics. Part A (2023)
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, Mara Rosner, Diana J Bailey, Laurie A Steiner, Saquib Ali Lakhani, Weizhen Ji, Philip J Katzman, Katherine R Forster, Olga Jarinova, Patrick Shannon, David Chitayat, null null
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American journal of medical genetics. Part A (2022)
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, Mara Rosner, Diana J Bailey, Laurie A Steiner, Saquib Ali Lakhani, Weizhen Ji, Philip J Katzman, Katherine R Forster, Olga Jarinova, Patrick Shannon, David Chitayat, null null
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American journal of medical genetics. Part A 191 (3) (2022)
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, Mara Rosner, Diana J Bailey, Laurie A Steiner, Saquib Ali Lakhani, Weizhen Ji, Philip J Katzman, Katherine R Forster, Olga Jarinova, Patrick Shannon, David Chitayat, null null
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American journal of medical genetics. Part A 191 (3) (2022)
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, Mara Rosner, Diana J Bailey, Laurie A Steiner, Saquib Ali Lakhani, Weizhen Ji, Philip J Katzman, Katherine R Forster, Olga Jarinova, Patrick Shannon, David Chitayat, null null
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American journal of medical genetics. Part A 191 (3) (2022)
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, Mara Rosner, Diana J Bailey, Laurie A Steiner, Saquib Ali Lakhani, Weizhen Ji, Philip J Katzman, Katherine R Forster, Olga Jarinova, Patrick Shannon, David Chitayat, null null
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American journal of medical genetics. Part A 191 (3) (2022)
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, Mara Rosner, Diana J Bailey, Laurie A Steiner, Saquib Ali Lakhani, Weizhen Ji, Philip J Katzman, Katherine R Forster, Olga Jarinova, Patrick Shannon, David Chitayat, null null
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American journal of medical genetics. Part A 191 (3) (2022)
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, Mara Rosner, Diana J Bailey, Laurie A Steiner, Saquib Ali Lakhani, Weizhen Ji, Philip J Katzman, Katherine R Forster, Olga Jarinova, Patrick Shannon, David Chitayat, null null
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American journal of medical genetics. Part A (2022)
Ebba Alkhunaizi, Sharon Unger, Patrick Shannon, Gen Nishimura, Susan Blaser, David Chitayat
Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants. American journal of medical genetics. Part A 182 (7) (2020)
Ebba Alkhunaizi, Shirley Shuster, Patrick Shannon, Victoria Mok Siu, Sandra Darilek, Carrie A Mohila, Sarah Boissel, Benjamin Ellezam, Catherine Fallet-Bianco, Anne-Marie Laberge, Julianne Zandberg, Marie Injeyan, Lili-Naz Hazrati, Fadi Hamdan, David Chitayat
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. American journal of medical genetics. Part A 179 (3) (2019)
Ebba Alkhunaizi, Robert K Koenekoop, Christine Saint-Martin, Laura Russell
Maternally inherited MAF variant associated with variable expression of Aymé-Gripp syndrome. American journal of medical genetics. Part A 179 (11) (2019)
Ebba Alkhunaizi, Nancy Braverman
Clinical characterization of a PUF60 variant in a patient with Dubowitz-like syndrome. American journal of medical genetics. Part A 179 (1) (2018)
Ebba Alkhunaizi, Ranad Shaheen, Sanjay Kumar Bharti, Ann M Joseph-George, Karen Chong, Ghada M H Abdel-Salam, Mohammed Alowain, Susan I Blaser, Blake C Papsin, Mohammed Butt, Mais Hashem, Nicole Martin, Ruth Godoy, Robert M Brosh, Fowzan Sami Alkuraya, David Chitayat
Warsaw breakage syndrome: Further clinical and genetic delineation. American journal of medical genetics. Part A 176 (11) (2018)
Ebba Alkhunaizi, Brett Schrewe, Reza Alizadehfar, Catherine Vézina, Grant S Stewart, Nancy Braverman
Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature. American journal of medical genetics. Part A 173 (6) (2017)