ElaineMariaPereiraMD

PubMed

• 1 citations
  Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers-Danlos syndrome.
  Priyanka Ahimaz, Tamar Kramer, Pooja Swaroop, McKenzie Mitchell, Rebecca Hernan, Kwame Anyane-Yeboa, Elaine M Pereira> ;American Journal of Medical Genetics. Part A. 2022 Nov 1
• 5 citations
  Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
  Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Stephanie M Robert, Sunday S Josiah, Emre Kiziltug, Anne-Sophie Denommé-Pichon, Benjamin C...> ;Genetics in Medicine. 2022 Sep 1
• Gene Therapy Update.
  Elaine Maria Pereira> ;Pediatrics in Review. 2022 Sep 1
• 6 citations
  A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report
  Natalie Lippa, Subit Barua, Vimla Aggarwal, Elaine M. Pereira, Jennifer M. Bain> ;BMC Neurology. 2021 Sep 16
• 33 citations
  Achondroplasia.
  Elaine Pereira> ;Pediatrics in Review. 2019 Jun 1
• 2 citations
  Contiguous Gene Syndromes
  Elaine Pereira, Robert W. Marion> ;Pediatrics in Review. 2018 Jan 1
• 12 citations
  Chromosome 22q11.2 Deletion Syndrome
  Elaine Pereira, Robert W. Marion> ;Pediatrics in Review. 2015 Jun 1
• 39 citations
  Identification of glutathione S-transferase (GST) polymorphisms in brain tumors and association with susceptibility to pediatric astrocytomas.
  Rona Ezer, Michelle Alonso, Elaine Pereira, Mimi Kim, Jeffrey C. Allen, Douglas C. Miller, Elizabeth W. Newcomb> ;Journal of Neuro-Oncology. 2002 Sep 1
• 10 citations
  Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
  Julius Rönkkö, Svetlana M. Molchanova, Anya Revah-Politi, Elaine M. Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig, Julika Neumann, Geert Bultynck...> ;Annals of Clinical and Translational Neurology. 2020 Sep 19
• 15 citations
  COVID-19's Impact on Genetics at One Medical Center in New York.
  Elaine M. Pereira, Wendy K. Chung> ;Genetics in Medicine. 2020 Jun 5
• 3 citations
  CARMIL2-related immunodeficiency manifesting with photosensitivity.
  Leila H. Shayegan, Maria C. Garzon, Kimberly D. Morel, Rachel Borlack, Patricia M Vuguin, Yesim Yilmaz Demirdag, Elaine M. Pereira, Christine T. Lauren, Margolis, K. G...> ;Pediatric Dermatology. 2020 Apr 27
• 39 citations
  Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.
  Jennifer Malinowski, David T. Miller, Laurie A. Demmer, Jennifer L Gannon, Elaine Maria Pereira, Molly C Schroeder, Maren T. Scheuner, Anne Chun-Hui Tsai, Scott E. Hic...> ;Genetics in Medicine. 2020 Mar 23
• 10 citations
  Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
  Angela E. Lin, Abdulrazak Alali, Lois J. Starr, Nidhi Shah, Anna Beavis, Elaine M. Pereira, Mark E. Lindsay, Susan Klugman> ;American Journal of Medical Genetics. Part A. 2020 Feb 1
• CLINICAL COURSE OF A UNIQUE CASE OF ALLGROVE SYNDROME AND CHALLENGES OF HYPOGLYCEMIA MANAGEMENT.
  Chang Lu, Ting A. Lee, Debra H. Pan, Elaine M. Pereira, Ping Zhou> ;AACE Clinical Case Reports. 2019 Aug 15
• 6 citations
  Familial inheritance of the 3q29 microdeletion syndrome: case report and review
  Wahab A. Khan, Ninette Cohen, Stuart A. Scott, Elaine M. Pereira> ;BMC Medical Genomics. 2019 Mar 18
• 26 citations
  NBEA : Developmental disease gene with early generalized epilepsy phenotypes
  Maureen S. Mulhern, Constance T. R. M. Stumpel, Nicholas Stong, Han G. Brunner, Louise Bier, Natalie Lippa, James J. Riviello, Rob P.W. Rouhl, Marlies Kempers, Rolph P...> ;Annals of Neurology. 2018 Oct 25
• Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus.
  Danitza Velazquez, Elaine M. Pereira, Thomas Havranek> ;AJP Reports. 2015 Nov 2
• 9 citations
  Clinical perspectives on osteogenesis imperfecta versus non-accidental injury.
  Elaine Maria Pereira> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2015 Dec 1
• 15 citations
  A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review.
  Deqiong Ma, Robert W. Marion, Netra Prasad Punjabi, Elaine Pereira, Joy M. Samanich, Chhavi Agarwal, Jianli Li, Chih Kang Huang, K. H. Ramesh, Linda A. Cannizzaro, Riz...> ;Molecular Cytogenetics. 2014 Nov 26
• 15 citations
  Hepatoblastoma in a mosaic trisomy 18 patient.
  Elaine Maria Pereira, Robert W. Marion, K. H. Ramesh, Jane S. Kim, Michelle Ewart, Rosanna Ricafort> ;Journal of Pediatric Hematology/oncology. 2012 May 1
• 40 citations
  Genotype-phenotype correlation in interstitial 6q deletions: A report of 12 new cases
  Jill A. Rosenfeld, Dina Amrom, Eva Andermann, Frederick Andermann, Martin Veilleux, Cynthia J. Curry, Jamie Fisher, Arthur S. Aylsworth, Cynthia M. Powell, Kandamurugu...> ;Neurogenetics. 2012 Jan 5
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Journal Articles

• NBEA: Developmental Disease Gene with Early Generalized Epilepsy Phenotypes  
  Mary K Kukolich, Danielle McBrian, Heather C Mefford, Elaine Pereira, Tristan T Sands, James Riviello, Annals of Neurology