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(2022) Biallelic variants in <i>ZNF142</i> lead to a syndromic neurodevelopmental disorder. Clinical Genetics. pp. 98-109. ISSN 0009-9163
(2022) Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clinical Genetics. pp. 98-109.
(2022) GGPS1-associated muscular dystrophy with and without hearing loss. Annals of Clinical and Translational Neurology. pp. 1465-1474.
(2022) <i>GGPS1</i>-associated muscular dystrophy with and without hearing loss. Annals of Clinical and Translational Neurology. pp. 1465-1474. ISSN 2328-9503
(2021) Bi-allelic loss-of-function variants in <i>BCAS3</i> cause a syndromic neurodevelopmental disorder. American Journal of Human Genetics. pp. 1069-1082. ISSN 0002-9297
(2021) Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. American Journal of Human Genetics. pp. 1069-1082.
(2021) Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum. Brain : a journal of neurology. e30.
(2021) Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. European Journal of Human Genetics. pp. 411-421.
(2019) Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration. European Journal of Human Genetics. pp. 311-312. ISSN 1018-4813
(2019) Homozygous Missense Variants in <i>NTNG2</i>, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. American Journal of Human Genetics. pp. 1048-1056. ISSN 0002-9297
(2018) Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration. Neurology. e319-e330. ISSN 1526-632X (Electronic) 0028-3878 (Print) 0028-3878 (Linking)
(2018) Gender differences in phenotype of severe early-onset obesity associated with congenital leptin receptor deficiency in a large consanguineous family. European Journal of Human Genetics. p. 209. ISSN 1018-4813
(2018) Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity. European journal of medical genetics. pp. 465-467. ISSN 1769-7212
(2018) Recessive mutations in <i>ATP8A2</i> cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. Orphanet Journal of Rare Diseases. p. 10.
(2017) A Common Ancestral Asn242Ser Mutation in <i>TMEM</i>67 Identified in Multiple Iranian Families with Joubert Syndrome. Public health genomics. pp. 188-193. ISSN 1662-4246
(2017) Digenic inheritance of mutations in the cardiac troponin (<i>TNNT2</i>) and cardiac beta myosin heavy chain (<i>MYH7</i>) as the cause of severe dilated cardiomyopathy. European journal of medical genetics. pp. 485-488. ISSN 1769-7212
(2017) <i>B3GALNT2</i> mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. Genome medicine. p. 11. ISSN 1756-994X
(2016) Genetic screening of Congenital Short Bowel Syndrome patients confirms <i>CLMP</i> as the major gene involved in the recessive form of this disorder. European Journal of Human Genetics. pp. 1627-1629. ISSN 1018-4813