Angelman syndrome: Current and emerging therapies in 2016
Tan, Wen-Hann, Bird, Lynne M.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2016)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2016)
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Journal Article
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
Published in Molecular psychiatry (01.07.2021)
Published in Molecular psychiatry (01.07.2021)
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Journal Article
Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization
Gold, Nina B, Campbell, Ian M, Sheppard, Sarah E, Tan, Wen-Hann
Published in Scientific reports (05.10.2021)
Published in Scientific reports (05.10.2021)
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Journal Article
Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient‐driven registry with implications for tumor surveillance and recurrence risk
Russell, Bianca E., Kianmahd, Rebecca R., Munster, Chelsea, Yu, Anna, Ahad, Leena, Tan, Wen‐Hann
Published in American journal of medical genetics. Part A (01.04.2023)
Published in American journal of medical genetics. Part A (01.04.2023)
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Journal Article
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.
Published in Prenatal diagnosis (01.08.2019)
Published in Prenatal diagnosis (01.08.2019)
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Journal Article
PTEN hamartoma tumour syndrome: early tumour development in children
Smpokou, Patroula, Fox, Victor L, Tan, Wen-Hann
Published in Archives of disease in childhood (01.01.2015)
Published in Archives of disease in childhood (01.01.2015)
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Journal Article
ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum
Yates, Thabo M., Drucker, Morgan, Barnicoat, Angela, Low, Karen, Gerkes, Erica H., Fry, Andrew E., Parker, Michael J., O'Driscoll, Mary, Charles, Perrine, Cox, Helen, Marey, Isabelle, Keren, Boris, Rinne, Tuula, McEntagart, Meriel, Ramachandran, Vijaya, Drury, Suzanne, Vansenne, Fleur, Sival, Deborah A., Herkert, Johanna C., Callewaert, Bert, Tan, Wen‐Hann, Balasubramanian, Meena
Published in Human mutation (01.05.2020)
Published in Human mutation (01.05.2020)
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Journal Article
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions
Verscaj, Courtney P, Velez-Bartolomei, Frances, Bodle, Ethan, Chan, Katie, Lyons, Michael J, Thorson, Willa, Tan, Wen-Hann, Rodig, Nancy, Graham, Jr, John M, Peron, Angela, Quintero-Rivera, Fabiola, Zackai, Elaine H, Thomas, Mary Ann, Stevens, Cathy A, Adam, Margaret P, Bird, Lynne M, Jones, Marilyn C, Matalon, Dena R
Published in Prenatal diagnosis (01.02.2024)
Published in Prenatal diagnosis (01.02.2024)
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Journal Article
Infant mortality: the contribution of genetic disorders
Wojcik, Monica H, Schwartz, Talia S, Thiele, Katri E, Paterson, Heather, Stadelmaier, Rachel, Mullen, Thomas E, VanNoy, Grace E, Genetti, Casie A, Madden, Jill A, Gubbels, Cynthia S, Yu, Timothy W, Tan, Wen-Hann, Agrawal, Pankaj B
Published in Journal of perinatology (01.12.2019)
Published in Journal of perinatology (01.12.2019)
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Journal Article
If not Angelman, what is it? a review of Angelman-like syndromes
Tan, Wen-Hann, Bird, Lynne M., Thibert, Ronald L., Williams, Charles A.
Published in American journal of medical genetics. Part A (01.04.2014)
Published in American journal of medical genetics. Part A (01.04.2014)
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Journal Article
Maladaptive behaviors in individuals with Angelman syndrome
Sadhwani, Anjali, Willen, Jennifer M., LaVallee, Nicole, Stepanians, Miganush, Miller, Hillary, Peters, Sarika U., Barbieri‐Welge, Rene L., Horowitz, Lucia T., Noll, Lisa M., Hundley, Rachel J., Bird, Lynne M., Tan, Wen‐Hann
Published in American journal of medical genetics. Part A (01.06.2019)
Published in American journal of medical genetics. Part A (01.06.2019)
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Journal Article
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis
D'Gama, Alissa M., England, Eleina, Madden, Jill A., Shi, Jiahai, Chao, Katherine R., Wojcik, Monica H., Torres, Alcy R., Tan, Wen‐Hann, Berry, Gerard T., Prabhu, Sanjay P., Agrawal, Pankaj B.
Published in American journal of medical genetics. Part A (01.01.2021)
Published in American journal of medical genetics. Part A (01.01.2021)
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Journal Article
Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability
Neuser, Sonja, Brechmann, Barbara, Heimer, Gali, Brösse, Ines, Schubert, Susanna, O'Grady, Lauren, Zech, Michael, Srivastava, Siddharth, Sweetser, David A., Dincer, Yasemin, Mall, Volker, Winkelmann, Juliane, Behrends, Christian, Darras, Basil T., Graham, Robert J., Jayakar, Parul, Byrne, Barry, Bar‐Aluma, Bat El, Haberman, Yael, Szeinberg, Amir, Aldhalaan, Hesham M., Hashem, Mais, Al Tenaiji, Amal, Ismayl, Omar, Al Nuaimi, Asma E., Maher, Karima, Ibrahim, Shahnaz, Khan, Fatima, Houlden, Henry, Ramakumaran, Vijayalakshmi S., Pagnamenta, Alistair T., Posey, Jennifer E., Lupski, James R., Tan, Wen‐Hann, ElGhazali, Gehad, Herman, Isabella, Muñoz, Tatiana, Repetto, Gabriela M., Seitz, Angelika, Krumbiegel, Mandy, Poli, Maria Cecilia, Kini, Usha, Efthymiou, Stephanie, Meiler, Jens, Maroofian, Reza, Alkuraya, Fowzan S., Abou Jamra, Rami, Popp, Bernt, Ben‐Zeev, Bruria, Ebrahimi‐Fakhari, Darius
Published in Human mutation (01.06.2021)
Published in Human mutation (01.06.2021)
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Journal Article
Cleft Lip and Palate in Ectodermal Dysplasia
Ganske, Ingrid M, Irwin, Tim, Langa, Olivia, Upton, 3rd, Joseph, Tan, Wen-Hann, Mulliken, John B
Published in The Cleft palate-craniofacial journal (01.02.2021)
Published in The Cleft palate-craniofacial journal (01.02.2021)
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Journal Article
Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia
Rohanizadegan, Mersedeh, Tracy, Sarah, Galarreta, Carolina I., Poorvu, Tabitha, Buchmiller, Terry L., Bird, Lynne M., Estroff, Judy A., Tan, Wen‐Hann
Published in American journal of medical genetics. Part A (01.08.2020)
Published in American journal of medical genetics. Part A (01.08.2020)
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Journal Article
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
Published in American journal of medical genetics. Part A (01.06.2014)
Published in American journal of medical genetics. Part A (01.06.2014)
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Journal Article
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
Published in American journal of medical genetics. Part A (01.07.2018)
Published in American journal of medical genetics. Part A (01.07.2018)
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Journal Article
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
Published in American journal of medical genetics. Part A (01.03.2019)
Published in American journal of medical genetics. Part A (01.03.2019)
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Journal Article