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European Journal of Human Genetics : EJHG|March 16, 2017
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian populationStojan Perić, Jelena Nikodinović Glumac, Ana Töpf, et al.
BMC Medical Genetics|June 11, 2016
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?André Mégarbané, Rashid Al-Ali, Nancy Choucair, et al.
BMC Nephrology|February 3, 2025
Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocolAmali Mallawaarachchi, Hugh McCarthy, Thomas A Forbes, et al.
Genome Research|March 22, 2019
Resolving the full spectrum of human genome variation using Linked-ReadsPatrick Marks, Sarah Garcia, Alvaro Martinez Barrio, et al.
American Journal of Human Genetics|June 5, 2018
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic SpectrumAndrea Ganna, F Kyle Satterstrom, Seyedeh M Zekavat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.
Medrxiv : the Preprint Server for Health Sciences|February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease DiagnosisMonica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
Nature Genetics|January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Diabetes|August 26, 2017
A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 DiabetesJosep M Mercader, Rachel G Liao, Avery D Bell, et al.
The New England Journal of Medicine|June 5, 2024
Genome Sequencing for Diagnosing Rare DiseasesMonica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
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