AngelaELinMD

PubMed

• The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
  San Roman, A., Skaletsky, H., Godfrey, A., Bokil, N., Teitz, L., Singh, I., Blanton, L., Bellott, D., Pyntikova, T., Lange, J., Koutseva, N., Hughes, J., Brown, L., Ph...> ;Cell Genomics. 2024 Jan 10
• Atlantoaxial instability associated with ALDH18A1 mutation.
  Alexandra T Lucas, Angela E Lin, Andrew Cohen, William Muñoz, Kristopher T Kahle, John H Shin, Karen Buch, Inderneel Sahai, Ryan W Carroll> ;American Journal of Medical Genetics. Part A. 2023 Dec 1
• Correspondence on "Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)" by De...
  Fowzan S Alkuraya, Kathryn J Gray, Siddharth K Prakash, Monica H Wojcik, Angela E Lin> ;Genetics in Medicine. 2023 Oct 1
• 3 citations
  The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
  Adrianna K San Roman, Helen Skaletsky, Alexander K Godfrey, Neha V Bokil, Levi Teitz, Isani Singh, Laura V Blanton, Daniel W Bellott, Tatyana Pyntikova, Julian Lange, ...> ;Biorxiv. 2023 Jun 7
• Multifocal heterotopic ossification in a man with germline variants of LIM Mineralization Protein-1 (LMP-1).
  Sreedhara Sangadala, Eileen M Shore, Meiqi Xu, Clemens Bergwitz, Santiago A Lozano-Calderon, Angela E Lin, Scott D Boden, Frederick S Kaplan> ;American Journal of Medical Genetics. Part A. 2023 Aug 1
• 3 citations
  Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network.
  Bailey A Martin-Giacalone, Angela E Lin, Sonja A Rasmussen, Russell S Kirby, Eirini Nestoridi, Rebecca F Liberman, A J Agopian, John C Carey, Janet D Cragan, Nina Fore...> ;American Journal of Medical Genetics. Part A. 2023 May 1
• 5 citations
  Trends in Delayed Diagnosis of Critical Congenital Heart Defects in an Era of Enhanced Screening, 2004-2018.
  Rebecca F Liberman, Dominique Heinke, Angela E Lin, Eirini Nestoridi, Mitcheka Jalali, Glenn R Markenson, Sepehr Sekhavat, Mahsa M Yazdy> ;The Journal of Pediatrics. 2023 Jun 1
• 4 citations
  Safety, tolerability, and effectiveness of anticoagulation and antiplatelet therapy in hereditary hemorrhagic telangiectasia.
  Zain M Virk, Ellen Zhang, Josanna Rodriguez-Lopez, Alison Witkin, Alexandra K Wong, Jay Luther, Angela E Lin, MingMing Ning, Eric Grabowski, Eric H Holbrook, Hanny Al-...> ;Journal of Thrombosis and Haemostasis. 2023 Jan 1
• 1 citations
  Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.
  Alexandra Garza Flores, Ida Nordgren, Maria Pettersson, Dora Dias-Santagata, Daniel Nilsson, Anna Hammarsjö, Anna Lindstrand, Dominyka Batkovskyte, Janey Wiggs, David ...> ;Frontiers in Genetics. 2023 Jan 1
• 1 citations
  Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants incause a Multisystem Fibroproliferative Response.
  Lois J Starr, Mark E Lindsay, Deborah Perry, Gregory Gheewalla, Paul A VanderLaan, Adnan Majid, Charlie Strange, George-Claudiu Costea, Adrian Lungu, Angela E Lin> ;Pediatric and Developmental Pathology. 2022 Sep 17
• Maternal exposure to heparin products and risk of birth defects in the National Birth Defects Prevention Study.
  Meredith M Howley, Sarah C Fisher, Alissa R Van Zutphen, Eleni A Papadopoulos, Jenil Patel, Angela E Lin, Marilyn L Browne> ;Birth Defects Research. 2023 Jan 15
• An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-funct...
  Gregory M Gheewalla, Jay Luther, Saumya Das, Jeffrey B Kreher, Eleanor R Scimone, Ashley W Wong, Mark E Lindsay, Angela E Lin> ;American Journal of Medical Genetics. Part A. 2022 Oct 1
• Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome.
  Sandra Hoyek, Marlene Wang, Audina M Berrocal, Ashley Wong, Emily M Place, Heather Mason-Suares, Angela E Lin, Shizuo Mukai, Nimesh A Patel> ;Ophthalmic Genetics. 2023 Apr 1
• 5 citations
  Parenthood among individuals with Turner syndrome: results of an online survey of attitudes towards pregnancy, adoption, and surrogacy.
  Erin Falsey, Allison L Cirino, Emma Snyder, Marcie Steeves, Angela E Lin> ;Journal of Community Genetics. 2022 Jun 1
• 2 citations
  Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
  Gerarda Cappuccio, Nicola Brunetti-Pierri, Paul Clift, Christopher Learn, John C Dykes, Catherine L Mercer, Bert Callewaert, Ilse Meerschaut, Alessandro Mauro Spinelli...> ;American Journal of Medical Genetics. Part A. 2022 May 1
• 5 citations
  Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights.
  Meredith M Howley, Eva Williford, A J Agopian, Angela E Lin, Lorenzo D Botto, Christopher M Cunniff, Paul A Romitti, Eirini Nestoridi, Marilyn L Browne> ;Birth Defects Research. 2023 Jan 1
• 2 citations
  LETTER TO THE EDITOR Re: First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome.
  Vaneeta Bamba, Lynne L Levitsky, Ashley W Wong, Greysha Rivera-Cruz, Cindy Scurlock, Angela E Lin> ;Journal of Assisted Reproduction and Genetics. 2022 Mar 1
• 2 citations
  Dermatologic findings in individuals with Turner syndrome: A cross-sectional study across the lifespan.
  Jordan T. Said, Deeti J. Pithadia, Emma A Snyder, Ibrahim Elsharkawi, Angela E. Lin, Evelyn Lilly> ;Journal of the American Academy of Dermatology. 2021 Oct 22
• Syndromes and birth defects in art and antiquities: New perspectives on a familiar theme.
  Angela E. Lin, Chaya N. Murali, Giovanni Neri> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2021 Jun 1
• 1 citations
  The earliest depictions of a PIK3CA-Related Overgrowth Spectrum disorder: 17th-18th century prints of women with severe limb overgrowth.
  Thomas Heyne, Giovanni Neri, Angela E. Lin> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2021 May 13
• 1 citations
  Klinefelter Syndrome and Turner Syndrome
  Carole A. Samango-Sprouse, Sophia Q. Song, Angela E. Lin, Cynthia M. Powell, Andrea L. Gropman> ;Pediatrics in Review. 2021 May 1
• 21 citations
  High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
  Anna Hammarsjö, Maria Pettersson, David Chitayat, Atsuhiko Handa, Britt-Marie Anderlid, Marco Bartocci, Donald Basel, Dominyka Batkovskyte, Ana Beleza-Meireles, Peter ...> ;Journal of Human Genetics. 2021 Apr 20
• 4 citations
  Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome
  Clara C. Hildebrandt, Nisha Patel, John M. Graham, Michael J. Bamshad, Deborah A. Nickerson, Janson White, Colby T. Marvin, Danny E. Miller, Katheryn Grand, Pedro A. S...> ;American Journal of Medical Genetics. Part A. 2021 Mar 30
• 3 citations
  Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.
  Dena R. Matalon, David A. Stevenson, Elizabeth J. Bhoj, Avni Santani, Beth Keena, Meryl S. Cohen, Angela E. Lin, Sarah E Sheppard, Elaine H. Zackai> ;American Journal of Medical Genetics. Part A. 2021 Mar 8
• Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification.
  Angela E. Lin, Nicola Brunetti-Pierri, Bert Callewaert, Valérie Cormier-Daire, Sofia Douzgou, T. Bernard Kinane, Mark E. Lindsay, Lois J. Starr> ;Geroscience. 2021 Feb 25
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Journal Articles

• Gain-of function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.  
  Lin AE, Alali A, Starr LJ, et al., Am J Med Genet Part A. 2019; 1–10, 2019
• Nonreentrant Atrial Tachycardia Occurs Independently of Hypertrophic Cardiomyopathy in RASopathy Patients  
  Karen W Gripp, Rosemarie Smith, Stephanie M Ware, Paula Goldenberg, Kathryn C Chatfield, Mark D Levin, Richard J Czosek, Elaine H Zackai, Angela E Lin, Tara L Wenger, ..., American Journal of Medical Genetics Part A
• Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.  
  Lin AE, et al., American Journal of Medical Genetics, 2016