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Livres
Articles (37)
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A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome

Lynne M. Bird, Wen-Hann Tan, Carlos A. Bacino, Sarika U. Peters, Steven A. Skinner, Irina Anselm, Rene Barbieri-Welge, Astrid Bauer-Carlin, Jennifer K. Gentile, Daniel G. Glaze, Lucia T. Horowitz, K.

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 352 KB

english, 2011

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

Tan, Wen-Hann, Bird, Lynne M., Thibert, Ronald L., Williams, Charles A.

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 12.26 MB

english, 2014

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

Gold, Nina B., Blumenthal, Jennifer A., Wessel, Ann E., Stein, Deborah R., Scott, Adam, Fox, Victor L., Turner, Amy, Kritzer, Amy, Rajabi, Farrah, Peeler, Katherine, Tan, Wen-Hann

Journal:

The Journal of Pediatrics

Année:

2018

Langue:

english

Fichier:

PDF, 312 KB

english, 2018

An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study

Khan, Nasreen, Cabo, Raquel, Tan, Wen-Hann, Tayag, Regina, Bird, Lynne M.

Journal:

Orphanet Journal of Rare Diseases

Année:

2019

Langue:

english

Fichier:

PDF, 572 KB

english, 2019

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

Hagit Baris, Wen-Hann Tan, Virginia E. Kimonis

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 107 KB

english, 2005

Cockayne syndrome: The developing phenotype

Wen-Hann Tan, Hagit Baris, Caroline D. Robson, Virginia E. Kimonis

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 109 KB

english, 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 134A: 220–222 (2005))

Hagit Baris, Wen-Hann Tan, Virginia E. Kimonis

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 32 KB

english, 2005

Identification of a novel polymorphism—the duplication of the NPHP1 (nephronophthisis 1) gene

Hagit Baris, Bassem A. Bejjani, Wen-Hann Tan, David L. Coulter, Judith A. Martin, Andrea L. Storm, Barbara K. Burton, Sulagna C. Saitta, Marzena Gajecka, Blake C. Ballif, Mira B. Irons, Lisa G. Shaffe

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 127 KB

english, 2006

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

Hagit N. Baris, Wen-Hann Tan, Virginia E. Kimonis, Mira B. Irons

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 321 KB

english, 2007

Angelman syndrome: Mutations influence features in early childhood

Wen-Hann Tan, Carlos A. Bacino, Steven A. Skinner, Irina Anselm, Rene Barbieri-Welge, Astrid Bauer-Carlin, Arthur L. Beaudet, Terry Jo Bichell, Jennifer K. Gentile, Daniel G. Glaze, Lucia T. Horowitz,

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 133 KB

english, 2011

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

Michael S.L. Ching, Yiping Shen, Wen-Hann Tan, Shafali S. Jeste, Eric M. Morrow, Xiaoli Chen, Nahit M. Mukaddes, Seung-Yun Yoo, Ellen Hanson, Rachel Hundley, Christina Austin, Ronald E. Becker, Gerard

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 224 KB

english, 2010

Developmental and degenerative features in a complicated spastic paraplegia

M. Chiara Manzini, Anna Rajab, Thomas M. Maynard, Ganeshwaran H. Mochida, Wen-Hann Tan, Ramzi Nasir, R. Sean Hill, Danielle Gleason, Muna Al Saffar, Jennifer N. Partlow, Brenda J. Barry, Mike Vernon,

Journal:

Annals of Neurology

Année:

2010

Langue:

english

Fichier:

PDF, 560 KB

english, 2010

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Ganeshwaran H. Mochida, Vijay S. Ganesh, Jillian M. Felie, Danielle Gleason, R. Sean Hill, Katie Rose Clapham, Daniel Rakiec, Wen-Hann Tan, Nadia Akawi, Muna Al-Saffar, Jennifer N. Partlow, Sigrid Tin

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 849 KB

english, 2010

Epilepsy in Prader–Willi syndrome: Clinical characteristics and correlation to genotype

Martina Vendrame, Kiran P. Maski, Madhumouli Chatterjee, Arezou Heshmati, Kalpathy Krishnamoorthy, Wen-Hann Tan, Sanjeev V. Kothare

Journal:

Epilepsy & Behavior

Année:

2010

Langue:

english

Fichier:

PDF, 160 KB

english, 2010

Emery and Rimoin's Principles and Practice of Medical Genetics || Human Developmental Genetics

Tan, Wen-Hann

Année:

2013

Langue:

english

Fichier:

PDF, 6.76 MB

english, 2013

Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family with B3GAT3 mutation and expansion of the phenotype

von Oettingen, Julia E., Tan, Wen-Hann, Dauber, Andrew

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 196 KB

english, 2014

PTEN hamartoma tumour syndrome: early tumour development in children: Table 1

Smpokou, Patroula, Fox, Victor L, Tan, Wen-Hann

Journal:

Archives of Disease in Childhood

Année:

2015

Langue:

english

Fichier:

PDF, 298 KB

english, 2015

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

Nakayama, Tojo, Al-Maawali, Almundher, El-Quessny, Malak, Rajab, Anna, Khalil, Samir, Stoler, Joan M., Tan, Wen-Hann, Nasir, Ramzi, Schmitz-Abe, Klaus, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar,

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.50 MB

english, 2015

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

Russell, Bianca, Johnston, Jennifer J., Biesecker, Leslie G., Kramer, Nancy, Pickart, Angela, Rhead, William, Tan, Wen-Hann, Brownstein, Catherine A., Kate Clarkson, L., Dobson, Amy, Rosenberg, Avi Z.

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 683 KB

english, 2015

Pharmacological therapies for Angelman syndrome

Tan, Wen-Hann, Bird, Lynne M.

Journal:

Wiener Medizinische Wochenschrift

Année:

2017

Langue:

english

Fichier:

PDF, 524 KB

english, 2017

Expansion of phenotype and genotypic data in CRB2-related syndrome

Lamont, Ryan E, Tan, Wen-Hann, Innes, A Micheil, Parboosingh, Jillian S, Schneidman-Duhovny, Dina, Rajkovic, Aleksandar, Pappas, John, Altschwager, Pablo, DeWard, Stephanie, Fulton, Anne, Gray, Kathry

Journal:

European Journal of Human Genetics

Année:

2016

Fichier:

PDF, 682 KB

2016

Expansion of phenotype and genotypic data in CRB2-related syndrome

Journal:

European Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 682 KB

english, 2016

Clinical heterogeneity associated withKCNA1mutations include cataplexy and nonataxic presentations

Brownstein, Catherine A., Beggs, Alan H., Rodan, Lance, Shi, Jiahai, Towne, Meghan C., Pelletier, Renee, Cao, Siqi, Rosenberg, Paul A., Urion, David K., Picker, Jonathan, Tan, Wen-Hann, Agrawal, Panka

Journal:

neurogenetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2016

Treatment of genetic disorders-A vision coming into focus

Bird, Lynne M., Tan, Wen-Hann

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 38 KB

english, 2016

Angelman syndrome: Current and emerging therapies in 2016

Tan, Wen-Hann, Bird, Lynne M.

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 512 KB

english, 2016

Characterization of a novel HESX1 mutation in a pediatric case of septo-optic dysplasia

Pozzi, Sara, Tan, Wen-Hann, Martinez-Barbera, JuanPedro

Journal:

Clinical Case Reports

Année:

2017

Langue:

english

Fichier:

PDF, 1.23 MB

english, 2017

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

Wenger, Tara, Li, Dong, Harr, Margaret H., Tan, Wen-Hann, Pellegrino, Renata, Stark, Zornitza, Hakonarson, Hakon, Bhoj, Elizabeth J.

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 901 KB

english, 2017

Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform

Sadhwani, Anjali, Sanjana, Neville E., Willen, Jennifer M., Calculator, Stephen N., Black, Emily D., Bean, Lora J. H., Li, Hong, Tan, Wen-Hann

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 652 KB

english, 2018

Recognizing and Managing Children with a Pediatric Cancer Predisposition Syndrome: A Guide for the Pediatrician

Coury, Stephanie A., Schneider, Katherine A., Schienda, Jaclyn, Tan, Wen-Hann

Journal:

Pediatric Annals

Année:

2018

Langue:

english

Fichier:

PDF, 378 KB

english, 2018

Clinical diversity of MYH7 -related cardiomyopathies: Insights into genotype-phenotype correlations

Hershkovitz, Tova, Kurolap, Alina, Ruhrman-Shahar, Noa, Monakier, Daniel, DeChene, Elizabeth T., Peretz-Amit, Gabriela, Funke, Birgit, Zucker, Nili, Hirsch, Rafael, Tan, Wen-Hann, Baris Feldman, Hagit

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 1.29 MB

english, 2018

Electrophysiological phenotype in Angelman syndrome differs between genotypes

Frohlich, Joel, Miller, Meghan, Bird, Lynne M., Garces, Pilar, Purtell, Hannah, Hoener, Marius C., Philpot, Benjamin D., Sidorov, Michael S., Tan, Wen-Hann, Hernandez, Maria-Clemencia, Rotenberg, Alex

Journal:

Biological Psychiatry

Année:

2019

Langue:

english

Fichier:

PDF, 2.09 MB

english, 2019

Prenatal imaging throughout gestation in Beckwith-Wiedemann syndrome

Shieh, Hester F., Estroff, Judy A., Barnewolt, Carol E., Zurakowski, David, Tan, Wen-Hann, Buchmiller, Terry L.

Journal:

Prenatal Diagnosis

Année:

2019

Langue:

english

Fichier:

PDF, 415 KB

english, 2019

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

Wojcik, Monica H., Thiele, Katri, Grant, Carly F., Chao, Katherine, Goodrich, Julia, O'Donnell-Luria, Anne, Lacro, Ronald V., Tan, Wen-Hann, Agrawal, Pankaj B.

Journal:

The Journal of Pediatrics

Année:

2019

Langue:

english

Fichier:

PDF, 897 KB

english, 2019

Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci

Bhoj, Elizabeth J., Rajabi, Farrah, Baker, Samuel W., Santani, Avni, Tan, Wen-Hann

Journal:

European Journal of Medical Genetics

Année:

2020

Langue:

english

Fichier:

PDF, 735 KB

english, 2020

Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation

Kantaputra, Piranit Nik, Coury, Stephanie A., Tan, Wen-Hann

Journal:

Archives of Oral Biology

Année:

2020

Fichier:

PDF, 2.61 MB

2020

Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment

Keute, Marius, Miller, Meghan T., Krishnan, Michelle L., Sadhwani, Anjali, Chamberlain, Stormy, Thibert, Ronald L., Tan, Wen-Hann, Bird, Lynne M., Hipp, Joerg F.

Journal:

Molecular Psychiatry

Année:

2020

Fichier:

PDF, 1.13 MB

2020

Cleft Lip and Palate in Ectodermal Dysplasia

Ganske, Ingrid M., Irwin, Tim, Langa, Olivia, Upton, Joseph, Tan, Wen-Hann, Mulliken, John B.

Journal:

The Cleft Palate-Craniofacial Journal

Année:

2020

Fichier:

PDF, 416 KB

2020