Anne Chun-Hui Tsai

Author PubWeight™ 19.24^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.	J Pediatr	2006	2.97
2	Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease.	Lab Invest	2006	1.91
3	Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.	Hum Mutat	2010	1.88
4	Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome.	Am J Med Genet A	2009	1.74
5	Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.	Nat Genet	2012	1.40
6	Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.	Eur J Hum Genet	2012	1.06
7	Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.	Eur J Hum Genet	2011	1.00
8	The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.	Am J Med Genet A	2013	0.97
9	Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome.	Curr Opin Pediatr	2008	0.96
10	Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.	Am J Med Genet A	2011	0.90
11	Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia.	Genomic Med	2008	0.87
12	Oculocutaneous albinism spectrum.	Am J Med Genet A	2009	0.85
13	Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.	J Craniofac Surg	2010	0.84
14	A new hypothesis of OCA1B.	Am J Med Genet A	2008	0.80
15	Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome.	Am J Med Genet A	2010	0.78
16	Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome.	Am J Med Genet A	2004	0.77
17	Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive.	Am J Med Genet A	2008	0.75
18	De novo duplication of the short arm of chromosome 12: dup(12)(p13.1p13.3).	Am J Med Genet A	2005	0.75