A homozygous NOP14 variant is likely to cause recurrent pregnancy loss

Reproductive outcomes following preimplantation genetic diagnosis using fluorescence in situ hybridization for 52 translocation carrier couples with a history of recurrent pregnancy loss

(2016) Keiichi Kato et al.   JOURNAL OF HUMAN GENETICS

Human genetic variation database, a reference database of genetic variations in the Japanese population

(2016) Koichiro Higasa et al.   JOURNAL OF HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

(2016) Eric M Scott et al.   NATURE GENETICS

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

(2015) Satoko Miyatake et al.   JOURNAL OF HUMAN GENETICS

Recurrent Spontaneous Miscarriage Is Still a Challenging Diagnostic and Therapeutic Quagmire

(2015) Michael F.E. Diejomaoh   MEDICAL PRINCIPLES AND PRACTICE

Recurrent miscarriage: causes, evaluation and management

(2015) Carmen Garrido-Gimenez et al.   POSTGRADUATE MEDICAL JOURNAL

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

(2014) Sian Ellard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo SOX11 mutations cause Coffin–Siris syndrome

(2014) Yoshinori Tsurusaki et al.   Nature Communications

An overview of pre-ribosomal RNA processing in eukaryotes

(2014) Anthony K. Henras et al.   Wiley Interdisciplinary Reviews-RNA

Whole exome sequencing revealed biallelicIFT122mutations in a family with CED1 and recurrent pregnancy loss

(2013) Y. Tsurusaki et al.   CLINICAL GENETICS

Exome sequencing identifies mutations inKIF14as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

(2013) I. Filges et al.   CLINICAL GENETICS

Evaluation and treatment of recurrent pregnancy loss: a committee opinion

(2012)   FERTILITY AND STERILITY

Chromosome heteromorphisms are more frequent in couples with recurrent abortions

(2012) H. Akbas et al.   GENETICS AND MOLECULAR RESEARCH

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

(2012) Hanan E. Shamseldin et al.   GENETICS IN MEDICINE

Pericentric inversion 16 in man - a second case

(2010) Konstantin Miller   CLINICAL GENETICS

Are heterochromatin polymorphisms associated with recurrent miscarriage?

(2010) Ahmet Okay Caglayan et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH

Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi Syndrome

(2009) Joy Armistead et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A genetic screen in zebrafish defines a hierarchical network of pathways required for hematopoietic stem cell emergence

(2009) C. E. Burns et al.   BLOOD

Chromosome heteromorphisms: an impact on infertility

(2008) Feride Iffet Sahin et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS