Wen-Hann Tan

Wen-Hann Tan

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Wen-Hann Tan

Wen-Hann Tan

Publications by authors named "Wen-Hann Tan"

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47Publications

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Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome.

J Pediatr 2019 Oct 22;213:235-240. Epub 2019 Jun 22.

Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.

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http://dx.doi.org/10.1016/j.jpeds.2019.05.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6765408PMC
October 2019

Prenatal imaging throughout gestation in Beckwith-Wiedemann syndrome.

Prenat Diagn 2019 Aug 18;39(9):792-795. Epub 2019 Mar 18.

Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1002/pd.5440DOI Listing
August 2019

Infant mortality: the contribution of genetic disorders.

J Perinatol 2019 Aug 8. Epub 2019 Aug 8.

Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1038/s41372-019-0451-5DOI Listing
August 2019

Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study.

Mol Genet Genomic Med 2019 Jul 14;7(7):e00734. Epub 2019 May 14.

Clinical Genetics/Dysmorphology, University of California, San Diego, Rady Children's Hospital San Diego, San Diego, California.

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http://dx.doi.org/10.1002/mgg3.734DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625091PMC
July 2019

Maladaptive behaviors in individuals with Angelman syndrome.

Am J Med Genet A 2019 Jun 3;179(6):983-992. Epub 2019 Apr 3.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.61140DOI Listing
June 2019

Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes.

Biol Psychiatry 2019 May 19;85(9):752-759. Epub 2019 Jan 19.

Neuroscience, Ophthalmology and Rare Diseases, Roche Innovation Center, Roche Pharma Research and Early Development, Basel, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.01.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482952PMC
May 2019

Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox.

J Pediatr 2018 07 19;198:313-316. Epub 2018 Apr 19.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2018.02.063DOI Listing
July 2018

Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.

Am J Med Genet A 2018 01 12;176(1):75-81. Epub 2017 Nov 12.

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38516DOI Listing
January 2018

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

Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.

JIMD Rep 2018 9;40:17-22. Epub 2017 Sep 9.

Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/8904_2017_55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122020PMC
September 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Pharmacological therapies for Angelman syndrome.

Wien Med Wochenschr 2017 Jun 12;167(9-10):205-218. Epub 2016 Jan 12.

Department of Pediatrics, University of California, San Diego, CA, USA.

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http://dx.doi.org/10.1007/s10354-015-0408-zDOI Listing
June 2017

Characterization of a novel mutation in a pediatric case of septo-optic dysplasia.

Clin Case Rep 2017 Apr 2;5(4):463-470. Epub 2017 Mar 2.

Developmental Biology and Cancer Research Programme Birth Defects Research Centre UCL Great Ormond Street Institute of Child Health London UK.

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http://dx.doi.org/10.1002/ccr3.868DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378840PMC
April 2017

Treatment of genetic disorders-A vision coming into focus.

Am J Med Genet C Semin Med Genet 2016 12 3;172(4):311-312. Epub 2016 Nov 3.

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http://dx.doi.org/10.1002/ajmg.c.31535DOI Listing
December 2016

Angelman syndrome: Current and emerging therapies in 2016.

Am J Med Genet C Semin Med Genet 2016 12 8;172(4):384-401. Epub 2016 Nov 8.

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http://dx.doi.org/10.1002/ajmg.c.31536DOI Listing
December 2016

Is one diagnosis the whole story? patients with double diagnoses.

Am J Med Genet A 2016 09 8;170(9):2338-48. Epub 2016 Jun 8.

The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.

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http://dx.doi.org/10.1002/ajmg.a.37799DOI Listing
September 2016

Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.

J Child Neurol 2016 07 6;31(8):1027-35. Epub 2016 Apr 6.

Department of Neurology, Boston Children's Hospital, Boston, MA, USA Department of Neurology, Massachusetts General Hospital, Boston, MA, USA Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1177/0883073816635749DOI Listing
July 2016

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.

Neurogenetics 2016 Jan 22;17(1):11-6. Epub 2015 Sep 22.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/s10048-015-0460-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911217PMC
January 2016

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Am J Med Genet A 2015 Sep 29;167A(9):2122-31. Epub 2015 Apr 29.

Medical Genetics Institute, Cedars Sinai Medical Center, Division of Medical Genetics, Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California.

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http://doi.wiley.com/10.1002/ajmg.a.37131
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http://dx.doi.org/10.1002/ajmg.a.37131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760347PMC
September 2015

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

Am J Hum Genet 2015 May 9;96(5):709-19. Epub 2015 Apr 9.

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570282PMC
May 2015

PTEN hamartoma tumour syndrome: early tumour development in children.

Arch Dis Child 2015 Jan 11;100(1):34-7. Epub 2014 Aug 11.

Harvard Medical School, Boston, Massachusetts, USA Division of Genetics, Boston Children's Hospital, Boston, Massachusetts, USA.

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http://adc.bmj.com/content/100/1/34.full.pdf
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http://adc.bmj.com/lookup/doi/10.1136/archdischild-2014-3059
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http://dx.doi.org/10.1136/archdischild-2014-305997DOI Listing
January 2015

Commentary.

Authors:
Wen-Hann Tan

Clin Chem 2015 Jan;61(1):54

Division of Genetics, Boston Children's Hospital, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1373/clinchem.2014.232934DOI Listing
January 2015

If not Angelman, what is it? A review of Angelman-like syndromes.

Am J Med Genet A 2014 Apr;164A(4):975-92

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April 2014

Epilepsy in Prader-Willi syndrome: clinical characteristics and correlation to genotype.

Epilepsy Behav 2010 Nov 21;19(3):306-10. Epub 2010 Aug 21.

Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Children's Hospital Boston, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.yebeh.2010.07.007DOI Listing
November 2010

Diagnostic utility of array-based comparative genomic hybridization in a clinical setting.

Am J Med Genet A 2007 Nov;143A(21):2523-33

Division of Genetics, Children's Hospital Boston, and Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1002/ajmg.a.31988DOI Listing
November 2007

Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency.

J Child Neurol 2006 Sep;21(9):801-5

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, MA 02114, USA.

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http://journals.sagepub.com/doi/10.1177/08830738060210090601
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http://dx.doi.org/10.1177/08830738060210090601DOI Listing
September 2006

Cockayne syndrome: the developing phenotype.

Am J Med Genet A 2005 Jun;135(2):214-6

Division of Genetics, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1002/ajmg.a.30731DOI Listing
June 2005

Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature.

Am J Med Genet A 2005 Apr;134A(2):220-2

Division of Genetics, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.30612DOI Listing
April 2005