IngridCristianMD

PubMed

• 8 citations
  Complete loss of the X-linked genecauses severe cerebellar degeneration.
  Paras A Patel, Ingrid Cristian, Alicia Kerr, Leslie E W LaConte, Michael A Fox, Sarika Srivastava, Konark Mukherjee, Hegert, J.> ;Journal of Medical Genetics. 2022 Nov 1
• 7 citations
  Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
  Kevin E. Glinton, Anna C.E. Hurst, Kevin M. Bowling, Ingrid Cristian, Devon Haynes, Dusit Adstamongkonkul, Oskar Schnappauf, David B. Beck, Carole Brewer, Aditi Shah P...> ;American Journal of Medical Genetics. Part A. 2021 Jan 31
• 13 citations
  Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.
  Adam W. Hansen, Payal Arora, Michael M. Khayat, Leah J. Smith, Andrea M. Lewis, Linda Z. Rossetti, Joy Jayaseelan, Ingrid Cristian, Devon Haynes, Stephanie DiTroia, Na...> ;HGG Advances. 2021 Jan 14
• 36 citations
  Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
  Michael D. Fountain, David S. Oleson, Megan E. Rech, Lara Segebrecht, Jill V. Hunter, John M. McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfel...> ;Genetics in Medicine. 2019 Aug 1
• 20 citations
  Erratum: Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome (The American Journal of Human Genetics (2017) 101(2) ...
  Nicole J. Lake, Bryn D. Webb, David A. Stroud, Tara R. Richman, Benedetta Ruzzenente, Alison G. Compton, Hayley S. Mountford, Juliette Pulman, Coralie Zangarelli, Marl...> ;American Journal of Human Genetics. 2018 Apr 5
• 15 citations
  De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review
  W.M.R. van den Akker, I. Brummelman, L.M. Martis, R.N. Timmermans, R. Pfundt, Tjitske Kleefstra, Marjolein H. Willemsen, Erica H. Gerkes, Johanna C. Herkert, A. J. van...> ;Clinical Genetics. 2018 May 1
• 25 citations
  Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
  Nicole J Lake, Bryn D Webb, David A Stroud, Tara R Richman, Benedetta Ruzzenente, Alison G Compton, Hayley S Mountford, Juliette Pulman, Coralie Zangarelli, Marlene Ri...> ;American Journal of Human Genetics. 2017 Aug 3
• 8 citations
  Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?
  Andrea C. Yu, Regina M. Zambrano, Ingrid Cristian, Sue Price, Birgitta Bernhard, Marc Zucker, Sunita Venkateswaran, Jean McGowan-Jordan, Christine M. Armour> ;American Journal of Medical Genetics. Part A. 2017 Jun 1
• 44 citations
  De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly
  Yizhou Ye, Megan T. Cho, Kyle Retterer, Nora Alexander, Tawfeg Ben-Omran, Mariam Almureikhi, Ingrid Cristian, Patricia G. Wheeler, Carrie Crain, Dina J. Zand, Veroniqu...> ;Cold Spring Harbor Molecular Case Studies. 2015 Oct 1
• 158 citations
  Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
  Guilherme L. Yamamoto, Meire Aguena, Monika Gos, Christina Hung, Jacek Pilch, Somayyeh Fahiminiya, Anna Abramowicz, Ingrid Cristian, Michelle Buscarilli, Michel S Nasl...> ;Journal of Medical Genetics. 2015 Mar 20
• 24 citations
  Quantitative Assessment of Facial Asymmetry Using Three-Dimensional Surface Imaging in Adults: Validating the Precision and Repeatability of a Global Approach
  Davida Kornreich, Adele A. Mitchell, Bryn D. Webb, Ingrid Cristian, Ethylin Wang Jabs> ;The Cleft Palate-Craniofacial Journal. 2016 Jan 1
• 5 citations
  Ocular findings and treatment of a young boy with Coats’ plus.
  Nicolas A. Yannuzzi, Jonathan H. Tzu, Audrey C. Ko, Ditte J. Hess, Ingrid Cristian, Audina M. Berrocal> ;Ophthalmic Surgery, Lasers & Imaging Retina. 2014 Sep 9
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