A
Annemarie Sommer
Researcher at Ohio State University
Publications - 46
Citations - 2156
Annemarie Sommer is an academic researcher from Ohio State University. The author has contributed to research in topics: Chromosomal translocation & Hypertelorism. The author has an hindex of 20, co-authored 45 publications receiving 2080 citations. Previous affiliations of Annemarie Sommer include Nationwide Children's Hospital & Boston Children's Hospital.
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Journal ArticleDOI
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance
Antonie D. Kline,Ian D. Krantz,Annemarie Sommer,Mark A. Kliewer,Laird G. Jackson,Laird G. Jackson,David R. FitzPatrick,Alex V. Levin,Angelo Selicorni +8 more
TL;DR: A clinical overview and recommendations for anticipatory guidance are timely in aiding caretakers and professionals to individualize care decisions and maximize developmental potential for individuals with CdLS.
Journal ArticleDOI
Mutations in PYCR1 cause cutis laxa with progeroid features
Bruno Reversade,Nathalie Escande-Beillard,Aikaterini Dimopoulou,Björn Fischer,Serene C Chng,Yun Li,Mohammad Shboul,Puay -Yoke Tham,Hülya Kayserili,Lihadh Al-Gazali,Monzer Shahwan,Francesco Brancati,Francesco Brancati,Hane Lee,Brian O'Connor,Mareen Schmidt-von Kegler,Barry Merriman,Stanley F. Nelson,Amira Masri,Fawaz Alkazaleh,Deanna Guerra,Paola Ferrari,Arti Nanda,Anna Rajab,David Markie,Mary J Gray,John Nelson,Arthur Grix,Annemarie Sommer,Ravi Savarirayan,Andreas R. Janecke,Elisabeth Steichen,David Sillence,Ingrid Hausser,Birgit Budde,Gudrun Nürnberg,Peter Nürnberg,Petra Seemann,Désirée Kunkel,Giovanna Zambruno,Bruno Dallapiccola,Markus Schuelke,Stephen P. Robertson,Hanan Hamamy,Bernd Wollnik,Lionel Van Maldergem,Stefan Mundlos,Uwe Kornak +47 more
TL;DR: The authors' findings link mutations in PYCR1 to altered mitochondrial function and progeroid changes in connective tissues, which led to epidermal hypoplasia and blistering that was accompanied by a massive increase of apoptosis.
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Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination
Lucia Y. Brown,Sylvie Odent,Véronique David,Martine Blayau,Christèle Dubourg,Can Apacik,Mauricio A. Delgado,Bryan D. Hall,James F. Reynolds,Annemarie Sommer,Dagmar Wieczorek,Stephen Brown,Maximilian Muenke +12 more
TL;DR: The prevalence of mutations in the zinc finger transcription factor gene, ZIC2, in a group of 509 unrelated individuals with isolated holoprosencephaly (HPE) and normal chromosomes supports the idea that Z IC2 haploinsufficiency can result in HPE.
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GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
Colleen A. Morris,Carolyn B. Mervis,Holly H. Hobart,Ronald G. Gregg,Jacquelyn Bertrand,Gregory J. Ensing,Annemarie Sommer,Cynthia A. Moore,Robert J. Hopkin,Patricia A. Spallone,Mark T. Keating,Lucy R. Osborne,Kendra W. Kimberley,A. Dean Stock +13 more
TL;DR: Five families with SVAS who have small deletions in the WS region studied shared a deletion of LIMK1, which encodes a protein strongly expressed in the brain, supporting the hypothesis that LimK1 hemizygosity contributes to impairment in visuospatial constructive cognition.
Journal ArticleDOI
Apnea and sudden unexpected death in infants with achondroplasia
Richard M. Pauli,Charles I. Scott,E. Robert Wassman,Enid F. Gilbert,Lewis A. Leavitt,James N. Ver Hoeve,Judith G. Hall,Michael W. Partington,Kenneth L. Jones,Annemarie Sommer,William E. Feldman,Leonard O. Langer,David L. Rimoin,Jacqueline T. Hecht,Ruth M. Lebovitz +14 more
TL;DR: Infants with achondroplasia evidently are at considerably increased risk for such deaths between 1 month and 1 year of age and Appropriate intervention, given these previously unrecognized risks, may include cervical restraint, polysomnographic evaluation, and apnea monitoring.