Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases
Fong, Nikki, Wei, Heming, Lim, Jiin Ying, Goh, Chew‐Yin Jasmine, Kam, Sylvia, Jamuar, Saumya Shekhar, Tan, Ene‐Choo
Published in American journal of medical genetics. Part A (01.02.2022)
Published in American journal of medical genetics. Part A (01.02.2022)
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Journal Article
Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant
Wei, Heming, Krishnappa, Janardhan, Lin, Grace, Kavalloor, Nirmal, Lim, Jiin Ying, Goh, Chew‐Yin Jasmine, Jamuar, Saumya Shekhar, Thomas, Terrence, Tan, Ene Choo
Published in American journal of medical genetics. Part A (01.03.2020)
Published in American journal of medical genetics. Part A (01.03.2020)
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Journal Article
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes
Wei, Heming, Lai, Angeline, Tan, Ee Shien, Koh, Mark Jean Aan, Ng, Ivy, Ting, Teck Wah, Thomas, Terrence, Cham, Breana, Lim, Jiin Ying, Kam, Sylvia, Goh, Chew Yin Jasmine, Lin, Grace, Brett, Maggie, Chan, Derrick, Jamuar, Saumya Shekhar, Tan, Ene-Choo
Published in Archives of disease in childhood (01.01.2021)
Published in Archives of disease in childhood (01.01.2021)
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Journal Article
Enzyme replacement therapy desensitization in a child with infantile onset Pompe disease
Toh, Theresa Shu Wen, Chong, Kok Wee, Goh, Anne Eng Neo, Goh, Jasmine Chew Yin, Ting, Teck Wah, Tan, Ee Shien, Goh, Si Hui
Published in Asian Pacific journal of allergy and immunology (01.12.2022)
Published in Asian Pacific journal of allergy and immunology (01.12.2022)
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Journal Article
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management
Bhatia, Neha S, Lim, Jiin Ying, Bonnard, Carine, Kuan, Jyn-Ling, Brett, Maggie, Wei, Heming, Cham, Breana, Chin, Huilin, Bosso-Lefevre, Celia, Dharuman, Perumal, Escande-Beillard, Nathalie, Devasia, Arun George, Goh, Chew Yin Jasmine, Kam, Sylvia, Liew, Wendy Kein-Meng, Liew, Woei Kang, Lin, Grace, Jain, Kanika, Ng, Alvin Yu-Jin, Subramanian, Deepa, Xie, Min, Tan, Yuen-Ming, Tawari, Nilesh R, Tiang, Zenia, Ting, Teck Wah, Tohari, Sumanty, Tong, Cheuk Ka, Lezhava, Alexander, Ng, Sarah B, Law, Hai Yang, Venkatesh, Byrappa, Tomar, Swati, Sethi, Raman, Tan, Grace, Shanmugasundaram, Arthi, Goh, Denise Li-Meng, Lai, Poh San, Lai, Angeline, Tan, Ee Shien, Ng, Ivy, Reversades, Bruno, Tan, Ene Choo, Foo, Roger, Jamuar, Saumya Shekhar
Published in Archives of disease in childhood (01.01.2021)
Published in Archives of disease in childhood (01.01.2021)
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Journal Article
Turner syndrome in diverse populations
Kruszka, Paul, Addissie, Yonit A., Tekendo‐Ngongang, Cedrik, Jones, Kelly L., Savage, Sarah K., Gupta, Neerja, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Aravena, Teresa, Nampoothiri, Sheela, Yesodharan, Dhanya, Girisha, Katta M., Patil, Siddaramappa Jagdish, Jamuar, Saumya Shekhar, Goh, Jasmine Chew‐Yin, Utari, Agustini, Sihombing, Nydia, Mishra, Rupesh, Chitrakar, Neer Shoba, Iriele, Brenda C., Lulseged, Ezana, Megarbane, Andre, Uwineza, Annette, Oyenusi, Elizabeth Eberechi, Olopade, Oluwarotimi Bolaji, Fasanmade, Olufemi Adetola, Duenas‐Roque, Milagros M., Thong, Meow‐Keong, Tung, Joanna Y. L., Mok, Gary T. K., Fleischer, Nicole, Rwegerera, Godfrey M., Herreros, María Beatriz, Watts, Johnathan, Fieggen, Karen, Huckstadt, Victoria, Moresco, Angélica, Obregon, María Gabriela, Hussen, Dalia Farouk, Ashaat, Neveen A., Ashaat, Engy A., Chung, Brian H. Y., Badoe, Eben, Faradz, Sultana M. H., El Ruby, Mona O., Shotelersuk, Vorasuk, Wonkam, Ambroise, Ekure, Ekanem Nsikak, Phadke, Shubha R., Richieri‐Costa, Antonio, Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.02.2020)
Published in American journal of medical genetics. Part A (01.02.2020)
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Journal Article
Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature
Ting, Chun Yi, Bhatia, Neha Singh, Lim, Jiin Ying, Goh, Chew-Yin Jasmine, Vasanwala, Rashida Farhad, Ong, Caroline Choo-Phaik, Seow, Wan Tew, Yeow, Vincent Kok-Leng, Ting, Teck Wah, Ng, Ivy Swee-Lian, Jamuar, Saumya Shekhar
Published in European journal of medical genetics (01.02.2020)
Published in European journal of medical genetics (01.02.2020)
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Journal Article
Clinical free text to HPO codes
Stinton, Gabrielle, Lieviant, Jane A., Kam, Sylvia, Lim, Jiin Ying, Goh, Jasmine Chew-Yin, Lim, Weng Khong, Baynam, Gareth, Tan, Tele, Pham, Duc-Son, Jamuar, Saumya Shekhar
Published in Rare (2023)
Published in Rare (2023)
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Journal Article
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad
Published in Molecular genetics and metabolism (01.07.2023)
Published in Molecular genetics and metabolism (01.07.2023)
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Journal Article
DEGS1 -related leukodystrophy: a clinical report and review of literature
Wong, Melissa Song Ting, Thomas, Terrence, Lim, Jiin Ying, Kam, Sylvia, Teo, Jing Xian, Ching, Jianhong, Goh, Chew Yin Jasmine, Jamuar, Saumya Shekhar, Lim, Weng Khong, Koh, Ai Ling
Published in Clinical dysmorphology (01.07.2023)
Published in Clinical dysmorphology (01.07.2023)
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To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening
Heng, Thurston Yan Jia, Ow, Jin Rong, Koh, Ai Ling, Lim, James Soon Chuan, Ong, Christine Bee Keow, Goh, Jasmine Chew Yin, Lim, Jiin Ying, Chiou, Fang Kuan, Jamuar, Saumya Shekhar
Published in Clinical dysmorphology (01.01.2024)
Published in Clinical dysmorphology (01.01.2024)
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Journal Article
Dilated aorta in CNOT3 -related neurodevelopmental disorder: 'expanding' the phenotype
Lau, Sandra Hui Min, Jiin Ying, Lim, Goh, Chew Yin Jasmine, Choo, Jonathan, Chow, Cristelle, Ling, Simon, Ng, Yong Hong, Yi Hua, Tan, Teo, Jing Xian, Chua, Khi Pin, Chin, Minning, Lim, Weng Khong, Jamuar, Saumya Shekhar, Lai, Angeline Hwei Meeng, Goh, Jeannette Lay Kuan
Published in Clinical dysmorphology (01.10.2024)
Published in Clinical dysmorphology (01.10.2024)
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Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Kuseyri Hübschmann, Oya, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad
Published in Molecular genetics and metabolism (01.08.2023)
Published in Molecular genetics and metabolism (01.08.2023)
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Journal Article
TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome
Si-Min Ng, Pamela, Khan, Shazia, Lim, Jiin Ying, Chew-Yin Goh, Jasmine, Lin, Grace Xiulin, Wei, Heming, Tan, Ene Choo, Jamuar, Saumya Shekhar
Published in Clinical dysmorphology (01.10.2019)
Published in Clinical dysmorphology (01.10.2019)
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