Mary BethDinulosMD

PubMed

• 2 citations
  Considerations for policymakers for improving health care through telegenetics: A points to consider statement of the American College of Medical Genetics and Genomics...
  Heather E Williams, Lila Aiyar, Mary Beth Dinulos, David Flannery, Michelle L McClure, Michele A Lloyd-Puryear, Kunal Sanghavi, Tracy L Trotter, David Viskochil> ;Genetics in Medicine. 2022 Nov 1
• Response to Hamosh et al.
  Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian H.Y. ...> ;American Journal of Human Genetics. 2021 Sep 2
• Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
  Silvia Martin-Almedina, Kazim Ogmen, Ege Sackey, Dionysios Grigoriadis, Christina Karapouliou, Noeline Nadarajah, Cathrine Ebbing, Jenny Lord, Rhiannon Mellis, Fanny K...> ;Genetics in Medicine. 2021 Jul 1
• 4 citations
  Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
  Silvia Martin-Almedina, Kazim Ogmen, Ege Sackey, Dionysios Grigoriadis, Christina Karapouliou, Noeline Nadarajah, Cathrine Ebbing, Jenny Lord, Rhiannon Mellis, Fanny K...> ;Genetics in Medicine. 2021 Jul 1
• 18 citations
  Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
  Karen W. Gripp, Sarah F. Smithson, Ingrid Scurr, Julia Baptista, Anirban Majumdar, Germaine Pierre, Maggie Williams, Lindsay B. Henderson, Ingrid M. Wentzensen, Heathe...> ;European Journal of Human Genetics. 2021 Feb 16
• 63 citations
  A dyadic approach to the delineation of diagnostic entities in clinical genomics.
  Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian H.Y. ...> ;American Journal of Human Genetics. 2021 Jan 7
• 6 citations
  The Impact of Direct-to-Consumer Genetic Testing on Patient and Provider.
  Mary Beth Dinulos, Stephanie E. Vallee> ;Clinics in Laboratory Medicine. 2020 Jan 7
• 4 citations
  Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
  Lauren B. Carter, Agatino Battaglia, Athena M. Cherry, Melanie A. Manning, Maura R.Z. Ruzhnikov, Lynne M. Bird, Leah Dowsett, John M. Graham, Fowzan S. Alkuraya, Mais ...> ;American Journal of Medical Genetics. Part A. 2019 Jun 17
• 7 citations
  Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome
  Hou-Sung Jung, Stephanie E. Vallee, Mary Beth Dinulos, Gregory J. Tsongalis, Joel A. Lefferts> ;Journal of Human Genetics. 2018 Sep 19
• 56 citations
  Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
  Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam M. Abdalla, Patrizia...> ;Genetics in Medicine. 2018 Sep 1
• 21 citations
  6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy
  Andrew M. Cheng, Mary Beth Dinulos, Whitney Neufeld-Kaiser, Jill A. Rosenfeld, McKenna Kyriss, Suneeta Madan-Khetarpal, Hiba Risheg, Peter H. Byers, Yajuan J. Liu> ;American Journal of Medical Genetics. Part A. 2017 Jul 1
• 37 citations
  Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients
  Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Duccio Maria Cordelli, Ebtesam M. Abdalla, Patrizia Accorsi, Margare...> ;Genetics in Medicine. 2017 Jun 1
• 31 citations
  Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases
  Kyla R. Rodgers, Jiang Gui, Mary Beth Dinulos, Richard C. Chou> ;Scientific Reports. 2017 Jan 4
• 29 citations
  A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
  Jing You, Nara Sobreira, Dustin L. Gable, Julie Jurgens, Dorothy K. Grange, Newell Belnap, Ashley L. Siniard, Szabolcs Szelinger, Isabelle Schrauwen, Ryan Richholt, St...> ;American Journal of Human Genetics. 2016 May 5
• 82 citations
  Investigation of NRXN1 deletions: Clinical and molecular characterization
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Medical Genetics. Part A. 2013 Apr 1
• 8 citations
  Improving genetic health care: a Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disability.
  John B. Moeschler, R. Stephen Amato, Thomas Brewster, Leah Burke, Mary Beth Dinulos, Rosemarie Smith, Wendy E. Smith, Patrick Miller> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2009 Aug 15
• 195 citations
  Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations
  Jennifer J. Johnston, Isabelle M. Olivos-Glander, Christina Killoran, Emma Elson, Joyce T. Turner, Kathryn F. Peters, Margaret H. Abbott, David J. Aughton, Arthur S. A...> ;American Journal of Human Genetics. 2005 Apr 1
• 1 citations
  Introduction: genetic principles, approaches and technologies.
  Mary Beth Dinulos> ;Clinics in Dermatology. 2005 Jan 1
• 471 citations
  Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
  William A. Paznekas, Simeon A. Boyadjiev, Robert E. Shapiro, Otto Daniels, Bernd Wollnik, Catherine E. Keegan, Jeffrey W. Innis, Mary Beth Dinulos, Cathy Christian, Ma...> ;American Journal of Human Genetics. 2003 Feb 1
• 62 citations
  The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome
  Melissa A. Parisi, Mary Beth Dinulos, Kathleen A. Leppig, Virginia P. Sybert, Charis Eng, Louanne Hudgins> ;Journal of Medical Genetics. 2001 Jan 1
• 16 citations
  Autosomal dominant inheritance of Barber-Say syndrome.
  Mary Beth Dinulos, Roberta A Pagon> ;American Journal of Medical Genetics. 1999 Sep 3
• 6 citations
  Expansile bone lesions in a three-generation family.
  Mary Beth Dinulos, Darci L. Sternen, C. Benjamin Graham, Louanne Hudgins> ;American Journal of Medical Genetics. 1999 Jan 1
• 17 citations
  Mapping of the murine Tbl1 gene reveals a new rearrangement between mouse and human X Chromosomes
  Christine M. Disteche, Mary Beth Dinulos, Maria Teresa Bassi, Rosemary W. Elliott, Elena I. Rugarli> ;Mammalian Genome. 1998 Dec 1
• 18 citations
  Structure and chromosomal localization of the β2 subunit of the human brain sodium channel
  James Eubanks, Jayashree Srinivasan, Mary Beth Dinulos, Christine M. Disteche, William A. Catterall> ;Neuroreport. 1997 Aug 18
• 75 citations
  Human Huntingtin Derived from YAC Transgenes Compensates for Loss of Murine Huntingtin by Rescue of the Embryonic Lethal Phenotype
  J. Graeme Hodgson, Desmond J. Smith, Krista McCutcheon, H. Brook Koide, Kazutoshi Nishiyama, Mary Beth Dinulos, Mary E. Stevens, Nagat Bissada, Jamal Nasir, Ichiro Kan...> ;Human Molecular Genetics. 1996 Dec 1
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