Publications by authors named "Sihoun Hahn"

8Publications

Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.

JPEN J Parenter Enteral Nutr 2020 Oct 21. Epub 2020 Oct 21.

Department of Pediatrics, Biochemical Genetics, University of Washington, Seattle Children's Hospital, Seattle, Washington, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jpen.2034DOI Listing
October 2020

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.

View Article

Download full-text PDF

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

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

Epilepsia 2015 Mar 5;56(3):422-30. Epub 2015 Feb 5.

Departments of Neurology, Pediatrics, and Biomedical Genetics, University of Rochester Medical Center, Rochester, New York, U.S.A; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York, U.S.A.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.12914DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4363281PMC
March 2015

Costly choices for treating Wilson's disease.

Hepatology 2015 Apr 10;61(4):1106-8. Epub 2015 Mar 10.

Yale-New Haven Transplantation Center, Yale School of Medicine, New Haven, CT.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/hep.27663DOI Listing
April 2015

The role of DMQ(9) in the long-lived mutant clk-1.

Mech Ageing Dev 2011 Jun-Jul;132(6-7):331-9. Epub 2011 Jul 1.

Department of Genetics, Case Western Reserve University, Cleveland, OH, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mad.2011.06.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156029PMC
December 2011

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.

Mol Genet Metab 2011 Aug 7;103(4):349-57. Epub 2011 May 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.05.001DOI Listing
August 2011

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.

Epilepsia 2009 May 14;50(5):1167-75. Epub 2008 Oct 14.

Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington, and Children's Hospital and Regional Medical Center, Seattle, Washington 98195-6320, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1528-1167.2008.01816.xDOI Listing
May 2009