MohammadEldomeryMD

PubMed

• Atypical teratoid/rhabdoid tumour-TYR subtype arising in the setting of germline ring chromosome 22: An uncommon form of tumour predisposition.
  Julieann C Lee, Quynh T Tran, Rose B McGee, Melissa R Perrino, Santhosh A Upadhyaya, Emily M Hanzlik, Nicholas Pytel, Andrew J Carroll, Wilda Orisme, Mohammad Eldomery...> ;Neuropathology and Applied Neurobiology. 2024 Apr 1
• Pediatric NCOA3-rearranged low-grade fibroblastic tumor with nuclear beta-catenin immunoreactivity.
  Shi, Z., Malik, F., Furtado, L., Eldomery, M., Koo, S.> ;Genes, Chromosomes & Cancer. 2024 Feb 1
• 4 citations
  Clinical and molecular features of pediatric cancer patients with Lynch syndrome.
  Sarah Scollon, Mohammad K Eldomery, Jacquelyn Reuther, Frank Y Lin, Samara L Potter, Lauren Desrosiers, Kenneth L McClain, Valeria Smith, Jack Meng-Fen Su, Rajkumar Ve...> ;Pediatric Blood & Cancer. 2022 Nov 1
• 2 citations
  De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
  Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E Posey, Zeynep Coban-Akdemir, Tamar Harel, Christopher M Grochowski, Hailey Loucks...> ;American Journal of Medical Genetics. Part A. 2022 Aug 1
• 1 citations
  Pineal teratoma with nephroblastic component in a newborn male: Case report and review of the literature.
  Jessica Thoe, Katrina Ducis, Mohammad K. Eldomery, Mark S. Marshall, Michael F. Ferguson, Alexander O. Vortmeyer, Jeffrey S. Raskin, Scott L. Coven> ;Journal of Clinical Neuroscience. 2020 Oct 1
• 41 citations
  Recurrent KRAS mutations in papillary renal neoplasm with reverse polarity.
  Khaleel I Al-Obaidy, Mehdi Nassiri, Liang Cheng, Mohammad K. Eldomery, Sean R. Williamson, W. A. Sakr, Nilesh S. Gupta, Oudai Hassan, Muhammad T. Idrees, David J. Grig...> ;Modern Pathology. 2020 Jun 1
• 48 citations
  Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
  Xia Wang, Jennifer E. Posey, Jill A. Rosenfeld, Carlos A. Bacino, Fernando Scaglia, LaDonna Immken, Jill M. Harris, Scott E. Hickey, Theresa Mihalic Mosher, Anne Slavo...> ;Annals of Clinical and Translational Neurology. 2018 Sep 15
• 52 citations
  Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
  Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Ning Ma, Deepti Domingo, Robert Kleyner, Alan F. Rope, Margaret Yoon, Asbjørg Stray-Pedersen, Jennifer E. Posey...> ;American Journal of Human Genetics. 2018 May 3
• 11 citations
  De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder (vol 101, pg 716, 2017)
  Davor Lessel, Claudia Schob, Sébastien Küry, Margot R.F. Reijnders, Tamar Harel, Mohammad K. Eldomery, Zeynep Coban-Akdemir, Jonas Denecke, Shimon Edvardson, Estelle C...> ;American Journal of Human Genetics. 2018 Jan 4
• 19 citations
  De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
  Davor Lessel, Claudia Schob, Sébastien Küry, Margot R F Reijnders, Tamar Harel, Mohammad K Eldomery, Zeynep Coban-Akdemir, Jonas Denecke, Shimon Edvardson, Estelle Col...> ;American Journal of Human Genetics. 2017 Nov 2
• 53 citations
  Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
  Xi Luo, Jill A. Rosenfeld, Shinya Yamamoto, Tamar Harel, Zhongyuan Zuo, Melissa Hall, Klaas J. Wierenga, Matthew Pastore, Dennis Bartholomew, Mauricio R. Delgado, Josh...> ;Plos Genetics. 2017 Jul 24
• 162 citations
  Lessons learned from additional research analyses of unsolved clinical exome cases
  Mohammad K. Eldomery, Zeynep H. Coban-Akdemir, Tamar Harel, Jill A. Rosenfeld, Tomasz Gambin, Asbjørg Stray-Pedersen, Sébastien Küry, Sandra Mercier, Davor Lessel, Jon...> ;Genome Medicine. 2017 Mar 21
• 51 citations
  Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
  Frederike L. Harms, Katta M. Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark A. Tarnopolsky, Lynne M. Bird, Sophi...> ;American Journal of Human Genetics. 2017 Jan 5
• 181 citations
  Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
  Asbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu S. Samarakoon, Tomasz Gambin, Ivan K. Chinn, Zeynep Coban Akdemir, Hans Christian Erichsen, Lisa R. Forbes, Shen Gu, ...> ;The Journal of Allergy and Clinical Immunology. 2017 Jan 1
• 96 citations
  Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
  Tomasz Gambin, Zeynep Coban Akdemir, Bo Yuan, Shen Gu, Theodore Chiang, Claudia M.B. Carvalho, Chad A. Shaw, Shalini N. Jhangiani, Philip M. Boone, Mohammad K. Eldomer...> ;Nucleic Acids Research. 2016 Dec 14
• 35 citations
  MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Genome Medicine. 2016 Nov 1
• 51 citations
  Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans
  Francesco Vetrini, Lisa C.A. D'Alessandro, Zeynep Coban Akdemir, Alicia Braxton, Mahshid S. Azamian, Mohammad K. Eldomery, Kathryn G. Miller, Chelsea Kois, Virginia Sa...> ;American Journal of Human Genetics. 2016 Oct 6
• 123 citations
  Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
  Tamar Harel, Wan Hee Yoon, Caterina Garone, Shen Gu, Zeynep Coban-Akdemir, Mohammad K. Eldomery, Jennifer E. Posey, Shalini N. Jhangiani, Jill A. Rosenfeld, Megan T. C...> ;American Journal of Human Genetics. 2016 Oct 6
• 17 citations
  GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
  Elisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napolio...> ;American Journal of Human Genetics. 2016 Sep 1
• 22 citations
  Erratum: GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability (American Journal of Human Genetics (2016) 99...
  Elisabeth M. Lodder, Pasquelena De Nittis, Charlotte D. Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napol...> ;American Journal of Human Genetics. 2016 Sep 1
• 58 citations
  Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
  Tamar Harel, Gozde Yesil, Yavuz Bayram, Zeynep Coban-Akdemir, Wu Lin Charng, Ender Karaca, Ali Al Asmari, Mohammad K. Eldomery, Jill V. Hunter, Shalini N. Jhangiani, J...> ;American Journal of Human Genetics. 2016 Mar 3
• 83 citations
  Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
  Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld, Levi B. Watkin, Theodore Chiang, Magalie S. Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini, Christina Y....> ;American Journal of Human Genetics. 2016 Feb 4
• 52 citations
  De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
  Lindsay C. Burrage, Wu Lin Charng, Mohammad K. Eldomery, Jason R. Willer, Erica E. Davis, Dorien Lugtenberg, Wenmiao Zhu, Magalie S. Leduc, Zeynep Coban Akdemir, Mahsh...> ;American Journal of Human Genetics. 2015 Dec 3
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