Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event von Brett, Maggie, Korovesis, George, Lai, Angeline H M, Lim, Eileen C P, Tan, Ene-Choo

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A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein–Taybi syndrome von Lai, Angeline H.M., Brett, Maggie S., Chin, Wai-Hoe, Lim, Eileen C.P., Ng, Jasmine S.H., Tan, Ene-Choo

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Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders von Yap, Chui-Sun, Jamuar, Saumya Shekhar, Lai, Angeline H.M., Tan, Ee-Shien, Ng, Ivy, Ting, Teck Wah, Tan, Ene-Choo

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Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation von Tan, Ene‐Choo, Lai, Angeline H. M., Brett, Maggie S. Y.

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Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene von Lian, Sophie, Ting, Teck Wah, Lai, Angeline H.M., Tan, Ee-Shien, Wei, Heming, Cham, Breana, Tan, Ene-Choo

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Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability von Haag, Natja, Tan, Ene-Choo, Begemann, Matthias, Buschmann, Lars, Kraft, Florian, Holschbach, Petra, Lai, Angeline H. M., Brett, Maggie, Mochida, Ganeshwaran H., Di Troia, Stephanie, Pais, Lynn, Neil, Jennifer E., Al-Saffar, Muna, Bastaki, Laila, Walsh, Christopher A., Kurth, Ingo, Knopp, Cordula

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Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy von Cabet, Sara, Putoux, Audrey, Buenerd, Annie, Gueneau, Lucie, Reymond, Alexandre, Thia, Edwin W.H., Lai, Angeline H.M., Schindewolf, Erica M., Sanlaville, Damien, Lesca, Gaetan, Guibaud, Laurent

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Speckled brain lesions in Incontinentia Pigmenti patients with acquired brain syndromes von RR, Pravin, Douch, Catherine, Aan Koh, Mark Jean, Lai, Angeline H M, Lim, CC Tchoyoson, Hartley, Louise, Thomas, Terrence, Yeo, Tong Hong

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Additional individuals with CHD7 variants in Chinese and other southeast Asian patients von Wei, Heming, Tan, Ee‐Shien, Jamuar, Saumya, Lai, Angeline H. M., Ng, Ivy, Tan, Ene‐Choo

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Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation von Brett, Maggie, Lai, Angeline H. M., Ting, Teck‐Wah, Tan, Ah‐Moy, Foo, Roger, Jamuar, Saumya, Tan, Ene‐Choo

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Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients von Lim, Eileen C P, Brett, Maggie, Lai, Angeline H M, Lee, Siew-Peng, Tan, Ee-Shien, Jamuar, Saumya S, Ng, Ivy S L, Tan, Ene-Choo

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The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome von Koh, Ai‐Ling, Tan, Ee‐Shien, Brett, Maggie S., Lai, Angeline H. M., Jamuar, Saumya Shekhar, Ng, Ivy, Tan, Ene‐Choo

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Safety and efficacy of iron chelation therapy with deferiprone in patients with transfusion-dependent thalassemia von Jamuar, Saumya S., Lai, Angeline H.M.

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End-stage renal disease in tuberous sclerosis complex-polycystic kidney disease contiguous gene syndrome: epidemiology, clinical manifestations and implications for transplantation von Lim, Cynthia C., Tan, Huizhuan, Thangaraju, Sobhana, Lai, Angeline H. M., Foo, Marjorie W. Y.

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Asymptomatic proteinuria, renal cysts and dorsal pancreas agenesis von Lim, Cynthia C., Lai, Angeline H.M., Choo, Jason C.J.

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The Clinical Effects of Fermented Papaya Preparation® (FPP®) on Oxidative Stress in Patients with HbE/ β -Thalassaemia von Jamuar, Saumya Shekhar, Tan, Ee Shien, Sun, Li, Law, Hai Yang, Lai, Angeline HM, Ng, Ivy SL

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Intussusception: a three-year review von Lai, A H M, Phua, K B, Teo, E L H J, Jacobsen, A S

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SMN1 deletions among singaporean patients with spinal muscular atrophy von Lai, A H M, Tan, E S, Law, H Y, Yoon, C S, Ng, I S L

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