David Chitayat (D Chitayat)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 32

Top Topics

Intellectual Disability

Dna Methylation

Top Venues

American journal of medical genetics. Part A

Prenatal diagnosis

AJNR. American journal of neuroradiology

EMBO molecular medicine

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

Publications

Liying Yang, Patrick Shannon, Rachel Silver, Maian Roifman, Carin Yates, David Chitayat
Prenatal diagnosis of ROR-2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities. Prenatal diagnosis (2024)
Liying Yang, Patrick Shannon, Rachel Silver, Maian Roifman, Carin Yates, David Chitayat
Prenatal diagnosis of ROR-2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities. Prenatal diagnosis 44 (5) (2024)
Liying Yang, Patrick Shannon, Rachel Silver, Maian Roifman, Carin Yates, David Chitayat
Prenatal diagnosis of ROR-2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities. Prenatal diagnosis 44 (5) (2024)
Liying Yang, Patrick Shannon, Rachel Silver, Maian Roifman, Carin Yates, David Chitayat
Prenatal diagnosis of ROR-2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities. Prenatal diagnosis 44 (5) (2024)
Rachel Youjin Oh, Kathy Chun, Paul E Kowalski, David Chitayat
De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III). American journal of medical genetics. Part A (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)
Sarah C Harris, Karen Chong, David Chitayat, Kelly L Gilmore, Alexander Augusto de Lima Jorge, Bruna L Freire, Antonio Marcondes Lerario, Patrick Shannon, Heidi Cope, William B Gallentine, Gwenal Le Guyader, Frederic Bilan, Pascaline Létard, Erica E Davis, Neeta L Vora
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy. 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)
Ashish Marwaha, David Chitayat, M Stephen Meyn, Roberto Mendoza-Londono, Lauren Chad
The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning. American journal of medical genetics. Part A 185 (4) (2021)
Reini E N van der Welle, Rebekah Jobling, Christian Burns, Paolo Sanza, Jan A van der Beek, Alfonso Fasano, Lan Chen, Fried J T Zwartkruis, Susan Zwakenberg, Edward F Griffin, Corlinda Ten Brink, Tineke Veenendaal, Nalan Liv, Conny M A van Ravenswaaij-Arts, Henny H Lemmink, Rolph Pfundt, Susan Blaser, Carolina Sepulveda, Andres M Lozano, Grace Yoon, Teresa Santiago-Sim, Cedric S Asensio, Guy A Caldwell, Kim A Caldwell, David Chitayat, Judith Klumperman
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation. EMBO molecular medicine 13 (5) (2021)
David Heikoop, Lauren Brick, David Chitayat, Samantha Colaiacovo, Lucie Dupuis, Hanna Faghfoury, Sharan Goobie, Roberto Mendoza, Melanie Napier, Margaret Nowaczyk, Rachel Oh, Josh Silver, Chitra Prasad, Maha Saleh
The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort. American journal of medical genetics. Part A 185 (12) (2021)
Nimrah Abbasi, Aideen Moore, Priscilla Chiu, Greg Ryan, Rosanna Weksberg, Cheryl Shuman, Leslie Steele, David Chitayat
Prenatally diagnosed omphaloceles: Report of 92 cases and association with Beckwith-Wiedemann syndrome. Prenatal diagnosis 41 (7) (2021)
G Talenti, Caroline D Robson, Mariasavina Severino, César Augusto Pinheiro Ferreira Alves, David Chitayat, H M Dahmoush, L Smith, Francesco Muntoni, Susan I Blaser, Felice D'Arco
Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders. AJNR. American journal of neuroradiology 42 (1) (2020)
Ashish R Deshwar, Nicole Martin, Patrick Shannon, David Chitayat
A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate. Clinical genetics 98 (3) (2020)
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)
Shirley Shuster, Johannes Keunen, Patrick Shannon, Nicholas Watkins, Karen Chong, David Chitayat
Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes. Prenatal diagnosis 39 (9) (2019)
Kirsten M Niles, Susan Blaser, Patrick Shannon, David Chitayat
Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management. Prenatal diagnosis 39 (9) (2019)
Samar Al Toukhi, David Chitayat, Johannes Keunen, Maian Roifman, Gareth Seaward, Rory Windrim, Greg Ryan, Tim VAN Mieghem
Impact of introduction of noninvasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies. Prenatal diagnosis 39 (7) (2019)
Danielle K Bourque, Inara Chacon Fonseca, Andrea Staines, Ronni Teitelbaum, Michelle M Axford, Rebekah Jobling, David Chiasson, David Chitayat
Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1. American journal of medical genetics. Part A 179 (7) (2019)
Alyaa AlRefai, James Drake, Abhaya V Kulkarni, Kristin L Connor, Patrick Shannon, Ants Toi, David Chitayat, Susan Blaser, Paige T Church, Nimrah Abbasi, Greg Ryan, Tim VAN Mieghem
Fetal myelomeningocele surgery: Only treating the tip of the iceberg. Prenatal diagnosis 39 (1) (2018)
Mehmet N Cizmeci, Maarten H Lequin, Klaske D Lichtenbelt, David Chitayat, Peter Kannu, A G James, Floris Groenendaal, Elavazhagan Chakkarapani, Susan I Blaser, Linda S de Vries
Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies. AJNR. American journal of neuroradiology 39 (6) (2018)
David Chitayat, Patrick Shannon, Tami Uster, Marjan M Nezarati, Rhonda E Schnur, Elizabeth Joyce Bhoj
An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. (). American journal of medical genetics. Part A 176 (9) (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)
Caroline Kinnear, Maruti Haranal, Patrick Shannon, Edgar T Jaeggi, David Chitayat, Seema Mital
Abnormal fetal cerebral and vascular development in hypoplastic left heart syndrome. Prenatal diagnosis 39 (1) (2018)