LynneMarieBirdMD

PubMed

• A unique pancreatic phenotype in a child with a WDR19-related ciliopathy: A case report and literature review of pancreatic involvement in ciliopathies.
  Michelle Nguyen Keyser, Maria Huang, Kimberly Newton, Nadine Benador, Julia Beauchamp-Walters, Lynne M Bird> ;American Journal of Medical Genetics. Part A. 2022 Jul 1
• 18 citations
  Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes.
  , , , , , , , , , , , , , , , , , , , , > ;Pediatric Neurology. 2021 Oct 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
• 8 citations
  Electrophysiological Abnormalities in Angelman Syndrome Correlate With Symptom Severity
  Joerg F. Hipp, Joel Frohlich, Marius Keute, Wen-Hann Tan, Lynne M. Bird> ;Biological Psychiatry Global Open Science. 2021 Sep 1
• 7 citations
  Clinical Characterization of Epilepsy in Children With Angelman Syndrome
  Daiana Cassater, Mariana Bustamante, Lisa Sach-Peltason, Alexander Rotenberg, Mark Nespeca, Wen-Hann Tan, Lynne M. Bird, Joerg F. Hipp> ;Pediatric Neurology. 2021 Aug 31
• 2 citations
  Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome
  Jennifer Friedman, Lynne M. Bird, Richard H. Haas, Shira L. Robbins, Shareef Nahas, David Dimmock, Matthew J. Yousefzadeh, Mariah A. Witt, Laura J. Niedernhofer, Shimu...> ;Molecular Genetics & Genomic Medicine. 2021 Jun 2
• 8 citations
  Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
  William Boyce Burns, Lynne M. Bird, Delphine Héron, Boris Keren, Divya Ramachandra, Isabelle Thiffault, Florencia del Viso, Shivarajan Manickavasagam Amudhavalli, Kend...> ;American Journal of Medical Genetics. Part A. 2021 May 29
• 15 citations
  Delta power robustly predicts cognitive function in Angelman syndrome.
  Lauren M. Ostrowski, Elizabeth R. Spencer, Lynne M. Bird, Ronald L. Thibert, Robert W. Komorowski, Mark A. Kramer, Catherine J. Chu> ;Annals of Clinical and Translational Neurology. 2021 May 28
• Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor
  Bryn D. Webb, Anthony Evans, Thomas P. Naidich, Lynne M. Bird, Sumit Parikh, Meilin Fernandez Garcia, Lindsay B. Henderson, Francisca Millan, Yue Si, Kristen J. Brenna...> ;Human Mutation. 2021 Apr 15
• 19 citations
  Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III.
  Anjali Sadhwani, Anne Wheeler, Angela Gwaltney, Sarika U. Peters, Rene Barbieri-Welge, Lucia T. Horowitz, Lisa M. Noll, Rachel J. Hundley, Lynne M. Bird, Wen-Hann Tan> ;Journal of Autism and Developmental Disorders. 2021 Jan 30
• 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 STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome.
  Lynne M. Bird, Cesar Ochoa-Lubinoff, Wen-Hann Tan, Gali Heimer, Raun D. Melmed, Amit Rakhit, Jeannie Visootsak, Matthew J. During, Christina Holcroft, Rebecca D. Burdi...> ;Neurology. 2020 Dec 21
• 89 citations
  An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
  David Dimmock, Michelle M. Clark, Mary Gaughran, Julie A. Cakici, Sara A. Caylor, Christina Clarke, Michele Feddock, Shimul Chowdhury, Lisa Salz, Cynthia Cheung, Lynne...> ;American Journal of Human Genetics. 2020 Nov 5
• 29 citations
  Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model
  T.G. Willgoss, Daiana Cassater, Siobhan Connor, Michelle L. Krishnan, Meghan T. Miller, Carla Dias-Barbosa, Dawn Phillips, Julie McCormack, Lynne M. Bird, Rebecca D. B...> ;Child Psychiatry and Human Development. 2021 Aug 1
• 34 citations
  Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment.
  Marius Keute, Meghan T. Miller, Michelle L. Krishnan, Anjali Sadhwani, Stormy J. Chamberlain, Ronald L. Thibert, Wen-Hann Tan, Lynne M. Bird, Joerg F. Hipp> ;Molecular Psychiatry. 2021 Jul 1
• 2 citations
  Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia.
  Mersedeh Rohanizadegan, Sarah A. Tracy, Carolina I. Galarreta, Tabitha Poorvu, Terry L. Buchmiller, Lynne M. Bird, Judy A. Estroff, Wen-Hann Tan> ;American Journal of Medical Genetics. Part A. 2020 Jun 23
• 4 citations
  Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning
  Diego A. Gomez, Lynne M. Bird, Nicole Fleischer, Omar A. Abdul-Rahman> ;American Journal of Medical Genetics. Part A. 2020 Jun 11
• 49 citations
  DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
  Sanaa Choufani, William T. Gibson, Andrei L. Turinsky, Brian H.Y. Chung, Tianren Wang, Kopal Garg, Alessandro Vitriolo, Ana S A Cohen, Sharri Cyrus, Sarah J. Goodman, ...> ;American Journal of Human Genetics. 2020 May 7
• 13 citations
  Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study
  Carolina I. Galarreta, Florin Vaida, Lynne M. Bird> ;American Journal of Medical Genetics. Part A. 2020 Apr 6
• Neurodevelopmental profile of siblings with Angelman syndrome due to pathogenic UBE3A variants
  Anjali Sadhwani, Jennifer M. Willen, H. Miller, Rene Barbieri-Welge, Lucia T. Horowitz, Lisa M. Noll, Sarika U. Peters, Rachel J. Hundley, Lynne M. Bird, Wen-Hann Tan> ;Journal of Intellectual Disability Research. 2020 Mar 1
• 17 citations
  Widening of the Genetic and Clinical Spectrum of Lamb-Shaffer Syndrome, a Neurodevelopmental Disorder Due to SOX5 Haploinsufficiency
  Ash Zawerton, Cyril Mignot, Ashley N. Sigafoos, Patrick R. Blackburn, Abdul Haseeb, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles, Isabe...> ;Genetics in Medicine. 2020 Mar 1
• 3 citations
  Leiomyosarcoma in Birt-Hogg-Dubé Syndrome.
  Lynne M. Bird, Dennis John Kuo, Diane Masser-Frye, Jun Q Mo, Jennifer D. Elster> ;Journal of Pediatric Hematology/oncology. 2020 Mar 1
• 22 citations
  Rare SUZ12 variants commonly cause an overgrowth phenotype
  Sharri Cyrus, Ana S A Cohen, Ruky Agbahovbe, Kristiina Avela, KS Yeung, Brian H.Y. Chung, HM Luk, Nataliya Tkachenko, Sanaa Choufani, Rosanna Weksberg, E. Lopez-Rangel...> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2019 Nov 17
• 4 citations
  An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study
  Nasreen Khan, Raquel Cabo, Wen-Hann Tan, Regina Tayag, Lynne M. Bird> ;Orphanet Journal of Rare Diseases. 2019 Nov 4
• 1 citations
  A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.
  Julia Han, Terry Jo Bichell, Stephanie Golden, Irina Anselm, Susan E. Waisbren, Carlos A. Bacino, Sarika U. Peters, Lynne M. Bird, Virginia Kimonis> ;Orphanet Journal of Rare Diseases. 2019 Oct 22
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Journal Articles

• Heterozygous WNT1 Variant Causing a Variable Bone Phenotype  
  Peter H Byers, Lynne M Bird, Brendan H Lee, American Journal of Medical Genetics Part A
• Expanding the Clinical Phenotype of Individuals with a 3-Bp in-Frame Deletion of the NF1 Gene (c.2970_2972del): An Update of Genotype–Phenotype Correlation  
  Rachel K Hachen, Elizabeth K Schorry, Arthur S Aylsworth, Katherine A Rauen, Ashraf Syed, Daryl A Scott, Lois J Starr, Donald G Basel, Lynne M Bird, Leah W Burke, Mari..., Nature
• Abnormal Coherence and Sleep Composition in Children with Angelman Syndrome: A Retrospective EEG Study  
  Lynne M Bird, David J Lee, Zheng Fan, Catherine J Chu, BioMed Central
• Defining the Phenotypic Spectrum of SLC6A1 Mutations  
  Lance H Rodan, Heather C Mefford, Lynne M Bird, Sara Chadwick Reichert, Mark Nespeca, Orrin Devinsky, Sarah Hopkins, Laura Pisani, John J Millichap, Joseph G Gleeson, Epilepsia
• Pharmacological Therapies for Angelman Syndrome  
  Lynne Bird, MD, Wiener Medizinische Wochenschrift
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