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Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia

Human genetics, 2021-05, Vol.140 (5), p.761-773

2021

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CircRNA Microarray Profiling Reveals hsa_circ_0058493 as a Novel Biomarker for Imatinib-Resistant CML

Frontiers in pharmacology, 2021-09, Vol.12, p.728916-728916

2021

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Identification of Anaplastic Lymphoma Kinase as a Potential Therapeutic Target in Ovarian Cancer

Cancer research (Chicago, Ill.), 2012-07, Vol.72 (13), p.3312-3323

2012

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Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report

BMC medical genomics, 2024-05, Vol.17 (1), p.136-136, Article 136

2024

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An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

Scientific reports, 2017-08, Vol.7 (1), p.7905-7, Article 7905

2017

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Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain

Frontiers in neuroscience, 2021-07, Vol.15

2021

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Mutant CARD10 in a family with progressive immunodeficiency and autoimmunity

Cellular & molecular immunology, 2020-07, Vol.17 (7), p.782-784

2020

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Haploinsufficiency of syncoilin leads to hypertrophic cardiomyopathy

Genes & diseases, 2022-11, Vol.9 (6), p.1412-1414

2022

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Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathy

Cardiology in the young, 2018-12, Vol.28 (12), p.1410-1414

2018

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Rare de novo copy number variants in patients with congenital pulmonary atresia

PloS one, 2014-05, Vol.9 (5), p.e96471-e96471

2014

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Duplication of 10q22.3-q23.3 encompassing BMPR1A and NGR3 associated with congenital heart disease, microcephaly, and mild intellectual disability

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.3174-3179

2015

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A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient

Frontiers in cardiovascular medicine, 2020-11, Vol.7

2020

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Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome

Frontiers in cardiovascular medicine, 2021-08, Vol.8

2021

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A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient

Journal of human genetics, 2022-10, Vol.67 (10), p.573-577

2022

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Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome

American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.1918-1923

2012

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19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome

Molecular cytogenetics, 2016-09, Vol.9 (1), p.71-71, Article 71

2016

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Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies

American journal of medical genetics. Part A, 2012-03, Vol.158A (3), p.685-688

2012

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Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome

Gene, 2015-10, Vol.571 (1), p.142-144

2015

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576kb deletion in 1p36.33–p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy

Gene, 2013-10, Vol.528 (2), p.352-355

2013

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Novel Miniaturized Light-Weight Coaxial Cavity Filters With Electrical Mainline Couplings

IEEE journal of microwaves, 2023-07, Vol.3 (3), p.1-11

2023

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A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Cytogenetic and genome research, 2017, Vol.152 (1), p.16-21

2017

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A novel 7-chemokine-genes predictive signature for prognosis and therapeutic response in renal clear cell carcinoma

Frontiers in pharmacology, 2023-03, Vol.14, p.1120562

2023

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Taurine inhibits osteoblastic differentiation of vascular smooth muscle cells via the ERK pathway

Amino acids, 2008-05, Vol.34 (4), p.525-530

2008

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A novel 7-chemokine-genes predictive signature for prognosis and therapeutic response in renal clear cell carcinoma

Frontiers in pharmacology, 2023-01, Vol.14, p.1120562-1120562

2023

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Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion

Gene, 2012-05, Vol.498 (2), p.308-310

2012

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Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia

CircRNA Microarray Profiling Reveals hsa_circ_0058493 as a Novel Biomarker for Imatinib-Resistant CML

Identification of Anaplastic Lymphoma Kinase as a Potential Therapeutic Target in Ovarian Cancer

Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain

Mutant CARD10 in a family with progressive immunodeficiency and autoimmunity

Haploinsufficiency of syncoilin leads to hypertrophic cardiomyopathy

Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathy

Rare de novo copy number variants in patients with congenital pulmonary atresia

Duplication of 10q22.3-q23.3 encompassing BMPR1A and NGR3 associated with congenital heart disease, microcephaly, and mild intellectual disability

A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient

Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome

A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient

Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome

19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome

Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies

Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome

576kb deletion in 1p36.33–p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy

Novel Miniaturized Light-Weight Coaxial Cavity Filters With Electrical Mainline Couplings

A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

A novel 7-chemokine-genes predictive signature for prognosis and therapeutic response in renal clear cell carcinoma

Taurine inhibits osteoblastic differentiation of vascular smooth muscle cells via the ERK pathway

A novel 7-chemokine-genes predictive signature for prognosis and therapeutic response in renal clear cell carcinoma

Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion

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