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R

Ranjha Khan

University of California System

H指数:20

被引数:1,253

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Functional impact assessment of tissue-specific missense variants in the PTPRH gene using a multi-tool computational framework

利用多工具计算框架对PTPRH基因组织特异性错义变异的功能影响评估

Cancer Genetics

IF2.1

2026-01-010

PRE

Whole Exome Sequencing in a Pakistani Family Affected with Demyelinating Hereditary Sensorimotor Polyneuropathy with Spinocerebellar Degeneration

全外显子组测序在受累于脱髓鞘性遗传性感觉运动多神经病变伴脊髓小脑退变的一个巴基斯坦家庭中的应用

Current Genetic Medicine Reports

IF1.3

2025-10-140

PRE

A novel mutation in CFAP58 leads to MMAF in humans and mice by disrupting CP assembly

<i>CFAP58</i>的一种新型突变通过破坏CP组装，导致人类和小鼠出现MMAF。

Human Molecular Genetics

IF3.2

2025-07-170

PRE

Decoding the Genes Orchestrating Egg and Sperm Fusion Reactions and Their Roles in Fertility

IF3.9

2024-12-150

OAAI

AF1q is a universal marker of neuroblastoma that sustains N-Myc expression and drives tumorigenesis

IF7.3

2024-02-270

OAAI

Gene therapy with AAV9-SGPL1 in an animal model of lung fibrosis

JOURNAL OF PATHOLOGY

IF5.2

2024-02-093

OAAI

A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

IF2.7

2023-10-134

PRE

Comparative study of microscale and macroscale technique for encapsulation of Calotropis gigantea extract in metal-conjugated nanomatrices for invasive ductal carcinoma

SCIENTIFIC REPORTS

IF3.9

2023-08-188

OAAI

Biallelic mutations in RNA-binding protein ADAD2 cause spermiogenic failure and non-obstructive azoospermia in humans

HUMAN REPRODUCTION OPEN

IF11.1

2023-05-184

OAAI

Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans (vol 108, pg 324, 2021)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-07-014

OAAI

Biallelic HFM1 variants cause non-obstructive azoospermia with meiotic arrest in humans by impairing crossover formation to varying degrees

HUMAN REPRODUCTION

IF6.1

2022-05-0817

PRE

A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms

ASIAN JOURNAL OF ANDROLOGY

IF2.7

2022-05-0113

OAAI

DNAzyme signal amplification based on Au@Ag core-shell nanorods for highly sensitive SERS sensing miRNA-21

ANALYTICAL AND BIOANALYTICAL CHEMISTRY

IF3.8

2022-04-133

PRE

ZFP541 maintains the repression of pre-pachytene transcriptional programs and promotes male meiosis progression

IF6.9

2022-03-0115

OA

Computationally predicted pathogenic USP9X mutation identified in infertile men does not affect spermatogenesis in mice

ZOOLOGICAL RESEARCH

IF4.7

2022-01-012

OAAI

Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice

FRONTIERS IN ENDOCRINOLOGY

IF4.6

2021-11-1713

OAAI

CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family

ASIAN JOURNAL OF ANDROLOGY

IF2.7

2021-11-051

OAAI

The molecular control of meiotic double-strand break (DSB) formation and its significance in human infertility

ASIAN JOURNAL OF ANDROLOGY

IF2.7

2021-11-0110

OAAI

Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families

ASIAN JOURNAL OF ANDROLOGY

IF2.7

2021-11-0116

OAAI

Nuclear translocation of MTL5 from cytoplasm requires its direct interaction with LIN9 and is essential for male meiosis and fertility

IF3.7

2021-08-137

OAAI