<i>SALL4</i> Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary

Integrative Role of the <i>SALL4</i> Gene: From Thalidomide Embryopathy to Genetic Defects of the Upper Limb, Internal Organs, Cerebral Midline, and Pituitary

(2023) Aneta Kodytková et al.   Hormone Research in Paediatrics

Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance

(2022) Aleksandra Szczawińska-Popłonyk et al.   ALLERGOLOGIA ET IMMUNOPATHOLOGIA

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

(2019) Anne‐Sophie Jourdain et al.   HUMAN MUTATION

VarAFT: a variant annotation and filtration system for human next generation sequencing data

(2018) Jean-Pierre Desvignes et al.   NUCLEIC ACIDS RESEARCH

Developmental biology of the upper limb

(2018) S. Guéro   Hand Surgery & Rehabilitation

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

(2017) Kashyap A. Patel et al.   Nature Communications

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era

(2016) Qing Fang et al.   ENDOCRINE REVIEWS

Novel frameshift variant in gene SALL4 causing Okihiro syndrome

(2016) Leandro Ucela Alves et al.   European Journal of Medical Genetics

SALL4, the missing link between stem cells, development and cancer

(2016) Hiro Tatetsu et al.   GENE

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: A family report

(2015) Guillaume Jedraszak et al.   ANNALES D ENDOCRINOLOGIE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Sall4-Gli3system in early limb progenitors is essential for the development of limb skeletal elements

(2015) Ryutaro Akiyama et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Organizing Principles of Mammalian Nonsense-Mediated mRNA Decay

(2013) Maximilian Wei-Lin Popp et al.   Annual Review of Genetics

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations

(2010) Stepanka Pruhova et al.   PEDIATRIC DIABETES

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Nonsense-mediated mRNA decay (NMD) mechanisms

(2009) Saverio Brogna et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Genome-wide analysis reveals Sall4 to be a major regulator of pluripotency in murine-embryonic stem cells

(2008) J. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA