Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy

The morbid genome of ciliopathies: an update

(2020) Hanan E. Shamseldin et al.   GENETICS IN MEDICINE

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

(2020) Neeta L. Vora et al.   GENETICS IN MEDICINE

Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism

(2020) Johanna Hietamäki et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Confirming TBC1D32 ‐related ciliopathy in humans

(2020) Nada Alsahan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

(2020) Maria Kousi et al.   NATURE GENETICS

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

(2019) Dorota Monies et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fetal phenotypes emerge as genetic technologies become robust

(2019) Kathryn J. Gray et al.   PRENATAL DIAGNOSIS

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

(2017) Ange-Line Bruel et al.   JOURNAL OF MEDICAL GENETICS

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Clinical utility of fetal autopsy and its impact on genetic counseling

(2015) Shalini S. Nayak et al.   PRENATAL DIAGNOSIS

Ciliary GenesTBC1D32/C6orf170andSCLT1are Mutated in Patients with OFD Type IX

(2013) Nouran Adly et al.   HUMAN MUTATION

Proteomic Analysis of Mammalian Primary Cilia

(2012) Hiroaki Ishikawa et al.   CURRENT BIOLOGY

Broad-Minded Links Cell Cycle-Related Kinase to Cilia Assembly and Hedgehog Signal Transduction

(2010) Hyuk Wan Ko et al.   DEVELOPMENTAL CELL