• Issue

    Annals of Human Genetics: Volume 84, Issue 1

    i, 1-106
    January 2020
Previous Issue|Next Issue
Export Citation(s)Download PDF(s)

ISSUE INFORMATION

Free Access

Issue Information

  • Page: i
  • First Published: 06 December 2019

ORIGINAL ARTICLES

Full Access

Genetic model of MS severity predicts future accumulation of disability

Kayla C. Jackson,  Katherine Sun,  Christopher Barbour,  Dena Hernandez,  Peter Kosa,  Makoto Tanigawa,  Ann Marie Weideman,  Bibiana Bielekova, 
  • Pages: 1-10
  • First Published: 08 August 2019
Full Access

Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years

Leila Cohen,  Analisa Manín,  Nancy Medina,  Sergio Rodríguez-Quiroga,  Dolores González-Morón,  Julieta Rosales,  Hernan Amartino,  Norma Specola,  Marta Córdoba,  Marcelo Kauffman,  Patricia Vega, 
  • Pages: 11-28
  • First Published: 16 August 2019
Full Access

Using microarray analysis to identify genes and pathways that regulate fetal hemoglobin levels

Siyuan Jia,  Wenguang Jia,  Shanjuan Yu,  Yanling Hu,  Yunyan He, 
  • Pages: 29-36
  • First Published: 08 August 2019
Full Access

Mediterranean fever (MEFV) gene profile and a novel missense mutation (P313H) in Iranian Azari-Turkish patients

Leila Rostamizadeh,  Leila Vahedi,  Seied Rafi Bahavarnia,  Shahriar Alipour,  Somayeh Abolhasani,  Alireza Khabazi,  Ebrahim Sakhinia, 
  • Pages: 37-45
  • First Published: 11 September 2019
Full Access

A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family

Ronggui Qu,  Qing Sang,  Xueqian Wang,  Yao Xu,  Biaobang Chen,  Jian Mu,  Zhihua Zhang,  Li Jin,  Lin He,  Lei Wang, 
  • Pages: 46-53
  • First Published: 08 September 2019
Full Access

In silico analysis of nonsynonymous single-nucleotide polymorphisms (nsSNPs) of the SMPX gene

Md. Arifuzzaman,  Sarmistha Mitra,  Raju Das,  Amir Hamza,  Nurul Absar,  Raju Dash, 
  • Pages: 54-71
  • First Published: 03 October 2019
Full Access

Integrative analysis of genome-wide association study and expression quantitative trait loci datasets identified various immune cell-related pathways for rheumatoid arthritis

Ping Li,  Xi Wang,  Xiong Guo,  Yan Wen,  Li Liu,  Xiao Liang,  Yanan Du,  Cuiyan Wu,  Sen Wang,  Feng Zhang, 
  • Pages: 72-79
  • First Published: 04 September 2019

SHORT COMMUNICATIONS

Open Access

EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome

Eszter Vojcek,  Tália Magdolna Keszthelyi,  Eszter Jávorszky,  Lídia Balogh,  Kálmán Tory, 
  • Pages: 80-86
  • First Published: 11 June 2019
Open Access

Congenital microcephaly-linked CDK5RAP2 affects eye development

Sami Zaqout,  Ethiraj Ravindran,  Gisela Stoltenburg-Didinger,  Angela M. Kaindl, 
  • Pages: 87-91
  • First Published: 29 July 2019
Full Access

A novel nonsense variant in PLS3 causes X-linked osteoporosis in a Chinese family

Lianqing Wang,  Xinchao Bian,  Guangying Cheng,  Peiqing Zhao,  Xinxin Xiang,  Wenxiu Tian,  Tao Li,  Qiaoli Zhai, 
  • Pages: 92-96
  • First Published: 26 July 2019
Full Access

A novel mutation of MSX1 inherited from maternal mosaicism causes a severely affected child with nonsyndromic oligodontia

Tengfei Ma,  Yi Liu,  Xiaoxue Zhao,  Jing Wu,  Huijuan Wang,  Jing Chen,  Peiwen Liu,  Xu Zhang,  Xiangyu Zhang, 
  • Pages: 97-101
  • First Published: 30 August 2019
Full Access

A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia

Mohammad Miryounesi,  Ali Nikfar,  Majid Changi-Ashtiani,  Mohammad Shahrooei,  Hossein Dinmohammadi,  Tina Shahani,  Samira Zarvandi,  Tahereh Bahrami,  Mana Momenilandi,  Hassan Rokni-Zadeh, 
  • Pages: 102-106
  • First Published: 30 September 2019