S. Lam

发表

Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: implications in transitional care.

Y. Lau, Anthony P Y Liu, P. Chow, 2014, European journal of medical genetics.

NSD1 mutations generate a genome-wide DNA methylation signature

A L Turinsky, C. Cytrynbaum, R. Weksberg, 2015, Nature Communications.

Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong

S. Lam, B. Chung, C. C. Mak, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa.

S. Lam, S. Yip, King-poo Lim, 2009, Archives of ophthalmology.

Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.

S. Lam, C. Shek, I. Lo, 2010, Hong Kong medical journal = Xianggang yi xue za zhi.

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P. Stankiewicz, P. Szafranski, J. Beckmann, 2013, Human mutation.

Novel FOXF 1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain

Gustavo, Ulrike, Schady, 2013 .

Issues on universal screening for galactosemia.

S. Lam, C. Padilla, 2008, Annals of the Academy of Medicine, Singapore.

Urinary incontinence should be added to the manifestation in women with Marfan syndrome

K. Choy, S. Lam, T. Lao, 2010, International Urogynecology Journal.

Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia

S. Lam, P. Lai, M. Thong, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

The Angelman (Happy Puppet) syndrome: is it autosomal recessive?

M. Patton, E. Brett, S. Lam, 1987, Clinical genetics.

Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort

W. Chong, K. Choy, T. Leung, 2014, Molecular Cytogenetics.

Prader--Willi syndrome: 16-year experience in Hong Kong.

S. Lam, H. Luk, David K. H. Chan, 2012, Journal of genetics and genomics = Yi chuan xue bao.

Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.

S. Lam, T. Tong, I. Lo, 2005, Chinese medical journal.

Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions

N. de Leeuw, C. Mercer, J. Barber, 2011, American journal of medical genetics. Part A.

Severe neonatal manifestations of Costello syndrome

B. Kerr, S. Lam, C. Brewer, 2007, Journal of Medical Genetics.

Cytogenetic analysis of patients with primary and secondary amenorrhoea in Hong Kong: retrospective study.

S. Lam, M. Wong, 2005, Hong Kong medical journal = Xianggang yi xue za zhi.

XX‐agonadism in a fetus with multiple congenital anomalies

S. Lam, I. Lo, H. Tse, 2004, American journal of medical genetics. Part A.

A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia

S. Tsui, V. Mok, A. Chan, 2014, Journal of Medical Genetics.

Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan‐like phenotypes

Y. Lau, S. Lam, B. Chung, 2009, American journal of medical genetics. Part A.

Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA).

S. Lam, L. Cheng, Kent K S Lai, 2006, Clinical biochemistry.

Interstitial Dup(1p) with findings of Kabuki make-up syndrome.

S. Lam, I. F. Lo, L. Cheung, 1998, American journal of medical genetics.

Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study.

S. Lam, I. Lo, E. K. Yau, 2004, Hong Kong medical journal = Xianggang yi xue za zhi.

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

D. Sillence, S. Robertson, A. Mégarbané, 2010, American journal of medical genetics. Part A.

High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe mental retardation.

S. Lam, T. Tong, K. K. Lai, 2006, Clinical biochemistry.

Proximal 10q trisomy: a new case with anal atresia

S. Lam, W. Chu, N. Kwong, 2000, Journal of medical genetics.

Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene

S. Lam, T. Tong, I. Lo, 2006, Prenatal diagnosis.

Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong

S. Scherer, A. Noor, J. Vincent, 2007, Schizophrenia Research.

Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong.

S. Lam, H. Luk, I. F. Lo, 2013, Hong Kong medical journal = Xianggang yi xue za zhi.

Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong.

S. Lam, H. Luk, Carmen Lai, 2013, Hong Kong medical journal = Xianggang yi xue za zhi.

Macrocephaly-capillary malformation: a report of four Chinese patients and literature review

S. Lam, H. Luk, I. Lo, 2012, Clinical dysmorphology.

Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong

S. Lam, P. So, H. Luk, 2020, American journal of medical genetics. Part A.

Neonatal screening in Hong Kong and Macau.

S. Lam, M. Cheng, 2003, The Southeast Asian journal of tropical medicine and public health.

Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification.

S. Lam, P. Ho, E. Ng, 2009, Fertility and sterility.

Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome.

S. Lam, I. F. Lo, R. Wong, 2001, Chinese medical journal.

The impact of the multi-disciplinary molecular tumour board and integrative next generation sequencing on clinical outcomes in advanced solid tumours

J. Wong, S. Lam, T. Lam, 2023, The Lancet regional health. Western Pacific.

Novel truncating mutations of the CHM gene in Chinese patients with choroideremia.

S. Lam, S. Yip, S. C. Cheung, 2007, Molecular vision.

A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy.

S. Lam, T. M. Tong, I. Lo, 2006, Chinese medical journal.

Consensus Statements on Precision Oncology in the China Greater Bay Area

S. Lam, T. Lam, J. Au, 2023, JCO precision oncology.

Niemann‐Pick Disease in the Chinese. Ort of four cases in three Chinese families

S. Lam, H. J. Lin, R. J. Collins, 1989, Pathology.

A young woman with mucocutaneous pigmentation and intestinal polyps.

K. Yu, S. Lam, H. Luk, 2013, Hong Kong medical journal = Xianggang yi xue za zhi.

Chromosomal abnormalities and FMR1 gene premutation in Chinese women with premature menopause.

S. Lam, T. Lo, I. Lo, 2005, Hong Kong medical journal = Xianggang yi xue za zhi.

Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady.

H. Gill, S. Lam, L. Chu, 2012, Chinese medical journal.

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P. Stankiewicz, P. Szafranski, J. Beckmann, 2013, Human mutation.