ElizabethBhojMD

PubMed

• KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders.
  Carolina Gracia-Diaz, Jonathan E Perdomo, Munir E Khan, Thomas Roule, Brianna L Disanza, Gregory G Cajka, Sunyimeng Lei, Alyssa L Gagne, Jean Ann Maguire, Ophir Shalem...> ;Cell Stem Cell. 2024 Mar 7
• Role of CAMK2D in neurodevelopment and associated conditions.
  Rigter, P., de Konink, C., Dunn, M., Proietti Onori, M., Humberson, J., Thomas, M., Barnes, C., Prada, C., Weaver, K., Ryan, T., Caluseriu, O., Conway, J., Calamaro, E...> ;American Journal of Human Genetics. 2024 Feb 1
• 1 citations
  TBCK syndrome: a rare multi-organ neurodegenerative disease.
  Emily L Durham, Rajesh Angireddy, Aaron Black, Ashley Melendez-Perez, Sarina Smith, Elizabeth M Gonzalez, Kristen G Navarro, Abdias Díaz, Elizabeth J K Bhoj, Kaitlin A...> ;Trends in Molecular Medicine. 2023 Oct 1
• Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
  Jessica R C Priestley, Ashish R Deshwar, Harsha Murthy, Maria D D'Agostino, Lucie Dupuis, Balram Gangaram, Christopher Gray, Rebekah Jobling, Emanuela Pannia, Konrad P...> ;Genetics in Medicine. 2023 Aug 1
• 1 citations
  A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
  Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Paul C Lee, Li Q Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jepht...> ;American Journal of Medical Genetics. Part A. 2023 May 1
• Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant.
  Yash B Shah, Ping Lin, Stone Chen, Alan Zheng, Wendy Alcaraz, Meghan C Towne, Courtney Gabriel, Elizabeth J Bhoj, Michele P Lambert, Timothy S Olson, Dale M Frank, Col...> ;British Journal of Haematology. 2023 Jan 1
• 2 citations
  Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0.
  Emily Lubin, Laura Bryant, Joseph Aicher, Dong Li, Elizabeth Bhoj> ;Human Genetics. 2022 Aug 1
• 2 citations
  Expanding the phenotypic spectrum of ARCN1-related syndrome.
  Alyssa L Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M Ackermann, Stephanie Hanke, Cara Skraban, Sanmati Cuddapah, Elizabeth Bhoj, Dong Li, Yukiko Kuroda, Jessica We...> ;Genetics in Medicine. 2022 Jun 1
• 1 citations
  Exome and RNA-Seq analyses of an incomplete penetrance variant in USP9X in female-specific syndromic intellectual disability.
  Dong Li, Michael E March, Tiancheng Wang, Victoria Merengwa, Livia Sertori Finoti, Samantha A Schrier Vergano, Hakon Hakonarson, Elizabeth J Bhoj> ;American Journal of Medical Genetics. Part A. 2022 Jun 1
• Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration Cohort.
  Rose Guo, Frank D Mentch, Dong Li, Erin E Will, Rebecca C Ahrens-Nicklas, Elizabeth J Bhoj> ;The Journal of Pediatrics. 2022 Sep 1
• 1 citations
  Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.
  Amanda Barone Pritchard, Kosuke Izumi, Irma Payan-Walters, Marc Yudkoff, Elizabeth B Rand, Elizabeth Bhoj> ;American Journal of Medical Genetics. Part A. 2022 May 1
• A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay.
  Giavanna Verdi, Dong Li, Sarah H Elsea, Beverly Nelson, Elizabeth J Bhoj, Hakon Hakonarson, Katherine R Yearwood, Sharmila Upadhya, Sarah Gluschitz, Janice L Smith, An...> ;Molecular Genetics & Genomic Medicine. 2022 Apr 1
• 2 citations
  Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients.
  Dong Li, Helen Downes, Cuiping Hou, Hakon Hakonarson, Elaine H Zackai, Samantha A Schrier Vergano, Elizabeth J Bhoj> ;American Journal of Medical Genetics. Part A. 2022 Mar 1
• 7 citations
  Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
  Jill R Murrell, Addie May I Nesbitt, Samuel W Baker, Kieran B Pechter, Jorune Balciuniene, Xiaonan Zhao, Elizabeth H Denenberg, Elizabeth T DeChene, Chao Wu, Pushkala ...> ;The Journal of Molecular Diagnostics. 2022 Mar 1
• 3 citations
  The Virtual Summer Research Program: supporting future physician-scientists from underrepresented backgrounds.
  Briana Macedo, Briana Christophers, Rio Barrere-Cain, Yentli Soto Albrecht, Michael C Granovetter, Rachit Kumar, Dania Daye, Elizabeth Bhoj, Lawrence Brass, Jose Alexa...> ;Journal of Clinical and Translational Science. 2022 Jan 1
• 13 citations
  Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
  Zheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Alessia Nasca, Reza Maroofian, Isabelle Schrauwen, Manuela Pendziwiat, Sunhee Ju...> ;American Journal of Human Genetics. 2021 Nov 19
• 6 citations
  Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans
  Cai Qi, Irena Feng, Ana Costa, Rita Pinto-Costa, Jennifer E. Neil, Oana Caluseriu, Dong Li, Rebecca D. Ganetzky, Charlotte Brasch-Andersen, Christina Fagerberg, Lars K...> ;Genetics in Medicine. 2021 Nov 1
• Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency
  James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G. Farrow, Isabelle Thiffault, Jennifer Kussman, Dihong Zhou, Rick Hemming, Kenneth G. Zahka...> ;Genetics in Medicine. 2021 Nov 1
• 11 citations
  De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
  Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill A. Rosenfeld, Jennifer A. Bassetti, Oana Moldovan, Emily O'Heir, Lindsay C. Burrage, Jake Allen, Li...> ;Molecular Autism. 2021 Oct 26
• 4 citations
  Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records.
  James M Havrilla, Mengge Zhao, Cong Liu, Chunhua Weng, Ingo Helbig, Elizabeth J. Bhoj, Kai Wang> ;Genes. 2021 Jul 28
• 1 citations
  Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.
  Tara L. Wenger, Jonathan A. Perkins, Julia Parish-Morris, Anne Hing, Maida Lynn Chen, Christopher M. Cielo, Dong Li, Elizabeth J. Bhoj, Hakon Hakonarson, Elaine H. Zac...> ;American Journal of Medical Genetics. Part A. 2021 Jul 22
• 16 citations
  Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Science Advances. 2021 May 1
• 29 citations
  Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
  Dmitrijs Rots, Eric Chater-Diehl, Alexander J. M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl Cytrynbaum, Sanaa Choufani, Ny Hoang, Susan Walker, Zain Awamleh...> ;American Journal of Human Genetics. 2021 Jun 3
• 1 citations
  Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
  Divya Nair, Dong Li, Hannah Erdogan, Andrew Yoon, Margaret Harr, Gaber Bergant, Borut Peterlin, Maruša Škrjanec Pušenjak, Parul Jayakar, Rolph Pfundt, Sandra Jansen, K...> ;HGG Advances. 2021 Apr 8
• 3 citations
  Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
  Dong Li, Michael E. March, Paola Fortugno, Liza L Cox, Leticia S. Matsuoka, Rosanna Monetta, Christoph Seiler, Louise C. Pyle, Emma Bedoukian, María José Sánchez-Soler...> ;Human Genetics. 2021 Apr 3
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