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Communications Biology|April 20, 2022
Exome sequencing of families from Ghana reveals known and candidate hearing impairment genesAmbroise Wonkam, Samuel Mawuli Adadey, Isabelle Schrauwen, et al.
Human Genetics|April 15, 2019
Variants in KIAA0825 underlie autosomal recessive postaxial polydactylyIrfan Ullah, Naseebullah Kakar, Isabelle Schrauwen, et al.
Human Genetics|September 1, 2018
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disabilityRegie Lyn P Santos-Cortez, Valeed Khan, Falak Sher Khan, et al.
Human Genetics|March 12, 2021
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of FinlandIrma Järvelä, Tuomo Määttä, Anushree Acharya, et al.
European Journal of Human Genetics : EJHG|June 17, 2021
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairmentThashi Bharadwaj, Isabelle Schrauwen, Sakina Rehman, et al.
Cells|July 6, 2023
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental DisordersEric Frankel, Avijit Podder, Megan Sharifi, et al.
Human Mutation|October 11, 2018
Global genetic insight contributed by consanguineous Pakistani families segregating hearing lossElodie M Richard, Regie Lyn P Santos-Cortez, Rabia Faridi, et al.
Clinical Genetics|February 22, 2023
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophyRabia Faridi, Rizwan Yousaf, Shoujun Gu, et al.
Human Mutation|April 27, 2011
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing lossMichael S Hildebrand, Matías Morín, Nicole C Meyer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2018
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosisIsabelle Schrauwen, Hanne Valgaeren, Laura Tomas-Roca, et al.
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