Sarah MacKinnon
Boston Children's Hospital
25 Papers
48 Citations
Sarah MacKinnon is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Medicine & Strabismus. The author has an hindex of 11, co-authored 22 publications.
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Papers
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
Sheena Chew,Ravikumar Balasubramanian,Wai-Man Chan,Peter B. Kang,Peter B. Kang,Caroline Andrews,Bryn D. Webb,Sarah MacKinnon,Darren T. Oystreck,Jessica K. Rankin,Jessica K. Rankin,Thomas O. Crawford,Michael T. Geraghty,Scott L. Pomeroy,William F. Crowley,Ethylin Wang Jabs,David G. Hunter,Patricia Ellen Grant,Elizabeth C. Engle +18 more
TL;DR: It is confirmed by electrophysiology that a progressive sensorimotor polyneuropathy does indeed segregate with the mutation, and the TUBB3 E410K syndrome is defined, which defines a new genetic aetiology for Moebius syndrome, Kallmann syndrome and cyclic vomiting.
The Early Treatment for Retinopathy Of Prematurity Study: structural findings at age 2 years.
William V. Good,William V. Good,R J Hardy,Velma Dobson,Earl A. Palmer,Dale L. Phelps,Michelle Quintos,Betty Tung,Ashima Madan,M. Bethany Ball,Patricia N. Hartsell,Dottie Inguillo,Michael W. Gaynon,Deborah Alcorn,Donna Ornitz,Judith Gancasz,David Durand,Terri Slagle,Gordon Smith,Michael J. Shapiro,Yesenia Garcia,Maria Genio,Jeffrey N. Bloom,Lawrence M. Kaufman,Wico W. Lai,Marilyn T. Miller,Daniel Neely,Elizabeth A. Hynes,James A. Lemons,David A. Plager,Naval Sondhi,Derek T. Sprunger,Paul J. Rychwalski,Greg K. Whittington,Peggy Fishman,Robert A. Gordon,Deborah S. Neff,Douglas B. Babel,James G. Diamond,William L. Gill,Scott M. Steidl,Kelly A. Hutcheson,Kevin Powdrill,Eric Jones,Mark W. Preslan,Michael X. Repka,Jennifer Shepard,Pamela Donahue,Susan W. Aucott,Mary Louise Z. Collins,Maureen M. Gilmore,James T. Handa,Cynthia H. Cole,Deborah K. VanderVeen,Terri Mansfield,Brenda L. MacKinnon,Anthony Fraioli,O'ine McCabe,Robert Peterson,David G. Hunter,Sarah MacKinnon,Rhiannon Johnson,Mariette Tyedmers,John Baker,Krist Cumming,Pat Manatrey,Antonio Capone,Edward O'Malley,Rajesh Rao,John Roarty,Michael T. Trese,George Williams,Stephen P. Christiansen,Sally Cook,Ann M. Holleschau,C. Gail Summers,Bradley V. Davitt,Linda Breuer,Oscar A. Cruz,William Keenan,Greg Mantych,Gregg T. Lueder,Sharon F. Freedman,David K. Wallace,Lori Hutchins Parkman,Sarah K. Jones,Laura B. Enyedi,James D. Reynolds,Kristine Ziemann,George P. Albert,Steven Awner,Rita Ryan,Pamela Ann Weber,Marc Horowitz,Cherylene Behrendt,Natalie Dweck,Richard Koty,Edmund LaGamma,John T. Flynn,Thomas C. Lee,Osode Coki,Michael F. Chiang,Steven A. Kane,Richard A. Polin,Cassandra Horihan,Jane Phillips,Gary David Markowitz,Walter Merriam,Leon Paul Noel,Donald Tingley,Matthew D. Gearinger,Gary L. Rogers,Don L. Bremer,Rae R. Fellows,Sharon Klamfoth,Brian W. Arthur,Cybil Bean Cassady,Leandro Cordero,Richard P. Golden,Richard W. Hertle,Richard McClead,Mary Lou McGregor,R. Michael Siatkowski,Lisa Ogilbee,Cheryl Harris,Reagan H. Bradford,Robert E. Leonard,Mary Anne McCaffree,David T. Wheeler,Nancy Dolphin,Ann U. Stout,Brian Nichols,David Epley,Graham E. Quinn,Jamie G. Koh,Soraya Abbasi,Jane C. Edmond,Brian J. Forbes,Albert M. Maguire,Monte D. Mills,Terri L. Young,Stephanie Davidson,Kenneth P. Cheng,Judith Jones,Robert Bergren,Beverly Brozanski,Bernard H. Doft,Louis Lobes,Karl Olsen,Richard A. Saunders,Linda Stevens,M. Millicent Peterseim,Edward Wilson,Dilip Purohit,David K. Coats,Michele L. Parker,Maria Castanes,Evelyn A. Paysee,Kimberly G. Yen,Joseph Garcia-Prats,W. A.J. Van Heuven,Y. Trigo,James C. MacDonald,Robert S. Hoffman,Susan Bracken,Paul Bernstein,Jerald King,Michael Teske,Maryann Redford,Richard L. Mowery,Donald F. Everett,Claudia Pedroza,Gordon Tsai,John Connett,Edward F. Donovan,Argye Hillis,Jonathan M. Holmes,Joseph M. Miller,Carol R. Taylor,Charles C. Barr +179 more
TL;DR: The benefit of earlier treatment of high-risk prethreshold ROP on retinal structure endures to 2 years of age, and is not counterbalanced by any known side effect caused by earlier intervention.
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
Mary C. Whitman,Mary C. Whitman,Caroline Andrews,Wai-Man Chan,Max A. Tischfield,Max A. Tischfield,Steven F. Stasheff,Francesco Brancati,Xilma R. Ortiz-Gonzalez,Sara Nuovo,Francesco Garaci,Sarah MacKinnon,David G. Hunter,David G. Hunter,P. Ellen Grant,Elizabeth C. Engle +15 more
TL;DR: Two novel de novo heterozygous TUBB3 amino acid substitutions are reported in four patients with both MCD and syndromic CFEOM3, which meld the two previously distinct TubB3‐associated phenotypes, and implicate similar microtubule dysfunction underlying both.
Treatment of unilateral coronal synostosis by endoscopic strip craniectomy or fronto-orbital advancement: Ophthalmologic findings.
TL;DR: Children with unilateral coronal synostosis treated by early endoscopic strip craniectomy may develop less severe V-pattern strabismus, excyclotorsion, and range of aniso-astigmatism than those treated by later fronto-orbital advancement.
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Superior rectus transposition vs medial rectus recession for treatment of esotropic Duane syndrome.
TL;DR: The combination of SRT and MRc was more effective than MRc or bilateral medial rectus resession at improving abduction while allowing for a smaller recession to align the eyes and eliminate a compensatory head posture.
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