Publications by authors named "Sharyn Lincoln"

15Publications

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.

Pediatrics 2017 Jun;139(Suppl 3):S183-S193

Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York.

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http://dx.doi.org/10.1542/peds.2016-1159EDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5621599PMC
June 2017

Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions.

Prenat Diagn 2017 Jan 29;37(1):37-42. Epub 2016 Nov 29.

Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA.

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http://dx.doi.org/10.1002/pd.4963DOI Listing
January 2017

Sex Education and Intellectual Disability: Practices and Insight from Pediatric Genetic Counselors.

J Genet Couns 2016 06 19;25(3):552-60. Epub 2015 Nov 19.

Graduate Program in Genetic Counseling, Brandeis University, MS008, 415 South St, Waltham, MA, 02453, USA.

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http://dx.doi.org/10.1007/s10897-015-9909-6DOI Listing
June 2016

Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders.

Curr Genet Med Rep 2014 Sep 2;2(3):124-134. Epub 2014 Jul 2.

Harvard Medical School, Boston, MA 02115.

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http://dx.doi.org/10.1007/s40142-014-0047-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192539PMC
September 2014

EEG abnormalities and seizures in genetically diagnosed Fragile X syndrome.

Int J Dev Neurosci 2014 Nov 9;38:155-60. Epub 2014 Jul 9.

Neurology, Boston Children's Hospital, Boston, MA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ijdevneu.2014.07.002DOI Listing
November 2014