Publications

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A
Rosenthal, E. A. et al. Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project. Genet Epidemiol 40, 470-4 (2016).
Chen, D. - H. et al. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Am J Hum Genet 98, 1146-1158 (2016).
Santos-Cortez, R. Lyn P. et al. Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. Am J Hum Genet 98, 331-8 (2016).
B
Donkervoort, S. et al. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Am J Med Genet A 182, 2272-2283 (2020).
Li, H. et al. Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. Am J Hum Genet 99, 501-10 (2016).
Vetrini, F. et al. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet 99, 886-893 (2016).
Makrythanasis, P. et al. Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet 26, 330-339 (2018).
C
Luo, X. et al. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet 13, e1006905 (2017).
Latif, Z. et al. Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. Invest Ophthalmol Vis Sci 59, 4552-4557 (2018).
Balaraju, S. et al. Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. Eur J Hum Genet 28, 373-377 (2020).
D
Schneider, R. et al. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Am J Hum Genet 107, 1113-1128 (2020).
Lessel, D. et al. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet 101, 716-724 (2017).
Ma, L. et al. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet 135, 1399-1409 (2016).
Chong, J. X. et al. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet 96, 462-73 (2015).
Zawerton, A. et al. De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. Am J Hum Genet 104, 246-259 (2019).
Qi, H. et al. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. PLoS Genet 14, e1007822 (2018).
Shahab, M. et al. Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs Adolescent Puberty: Human Genetic Evidence. J Clin Endocrinol Metab 103, 1273-1276 (2018).
Kuhny, M. et al. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest 130, 4411-4422 (2020).
Boyden, L. M. et al. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. Hum Mol Genet 25, 348-57 (2016).
Guissart, C. et al. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet 102, 744-759 (2018).
E
Pehlivan, D. et al. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet 134, 671-3 (2015).
Ansar, M. et al. Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability. Eur J Hum Genet 24, 1223-7 (2016).
F
Kuang, S. - Q. et al. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest 126, 948-61 (2016).
Spier, I. et al. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int J Cancer 137, 320-31 (2015).
G
Chong, J. X. et al. Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genet Med 18, 788-95 (2016).
H
Marom, R. et al. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat 38, 1365-1371 (2017).
Ansar, M. et al. A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. J Med Genet 52, 676-80 (2015).
van der Ven, A. T. et al. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. PLoS One 13, e0191224 (2018).
Karaca, E. et al. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell 157, 636-50 (2014).
Mace, E. M. et al. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest 130, 5272-5286 (2020).
I
Santos-Cortez, R. Lyn P. et al. Identification of ASAH1 as a susceptibility gene for familial keloids. Eur J Hum Genet 25, 1155-1161 (2017).
Dianatpour, M. et al. Identification of homozygous mutations for hearing loss. Gene 778, 145464 (2021).
Guemez-Gamboa, A. et al. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nat Genet 47, 809-13 (2015).
K
Cif, L. et al. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain 143, 3242-3261 (2020).
L
F Satterstrom, K. et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell 180, 568-584.e23 (2020).
Helle, E. et al. Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts. Genet Epidemiol 43, 215-226 (2019).
Kaiser, F. J. et al. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet 23, 2888-900 (2014).
M
Heimer, G. et al. MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. Am J Hum Genet 99, 1229-1244 (2016).
Balasubramanian, K. et al. MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. Am J Med Genet A 173, 2415-2421 (2017).
Pravata, V. M. et al. A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability. FEBS Lett 594, 717-727 (2020).
Emdin, C. A. et al. A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. PLoS Genet 16, e1008629 (2020).
Shahzad, M. et al. Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. Sci Rep 7, 44185 (2017).
Rainger, J. et al. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet 94, 915-23 (2014).
Bennett, J. T. et al. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet 98, 579-587 (2016).
Riele, A. S. J. M. Te et al. Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis. Cardiovasc Res 113, 102-111 (2017).
Bootpetch, T. C. et al. Multi-omic studies on missense PLG variants in families with otitis media. Sci Rep 10, 15035 (2020).
Li, L. et al. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet 14, e1007504 (2018).
Romberg, N. et al. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet 46, 1135-1139 (2014).
Boyden, L. M. et al. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. Am J Hum Genet 107, 158-163 (2020).
Santos-Cortez, R. Lyn P. et al. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet 93, 132-40 (2013).

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