Publications

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2012
Bernier, F. P. et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 90, 925-33 (2012).
2013
Ashraf, S. et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 123, 5179-89 (2013).
Sanna-Cherchi, S. et al. Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med 369, 621-9 (2013).
Jenkinson, E. M. et al. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet 92, 605-13 (2013).
Levinsohn, J. L. et al. Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. J Invest Dermatol 133, 827-830 (2013).
2014
Çağlayan, A. Okay et al. Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. Pediatr Neurol 51, 806-813.e8 (2014).
Prada, C. E. et al. Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. Eur J Med Genet 57, 339-344 (2014).
Gripp, K. W. et al. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet A 164A, 2240-9 (2014).
Okamoto, Y. et al. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med 16, 386-394 (2014).
Campeau, P. M. et al. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol 13, 44-58 (2014).
de Kock, L. et al. Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol 128, 583-95 (2014).
Bergner, A. L. et al. Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings. Am J Med Genet A 164A, 2745-52 (2014).
Shapiro, A. J. et al. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest 146, 1176-1186 (2014).
Aldinger, K. A. et al. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. Am J Hum Genet 95, 227-34 (2014).
Knowles, M. R. et al. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med 189, 707-17 (2014).
Xie, Y. Angela et al. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet 23, 5774-80 (2014).
Bosch, D. G. M. et al. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet 94, 303-9 (2014).
Campbell, I. M. et al. Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am J Hum Genet 95, 345-59 (2014).
Cecchi, A. C. et al. RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke 45, 3200-7 (2014).
Migliavacca, M. P. et al. Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. Am J Med Genet A 164A, 1170-4 (2014).
2015
Cordeddu, V. et al. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat 36, 1080-7 (2015).
Sawyer, S. L. et al. Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. Cancer Discov 5, 135-42 (2015).
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).
Lodish, M. B. et al. Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations. Eur J Endocrinol 172, 803-11 (2015).
Bachmann-Gagescu, R. et al. KIAA0586 is Mutated in Joubert Syndrome. Hum Mutat 36, 831-5 (2015).
Isrie, M. et al. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. Am J Hum Genet 97, 790-800 (2015).
Bonora, E. et al. Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. Gastroenterology 148, 771-782.e11 (2015).
Riveiro-Álvarez, R. et al. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol 133, 133-9 (2015).
Scholl, H. P. N. et al. Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT). PLoS One 10, e0143846 (2015).
Gripp, K. W. et al. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Am J Med Genet A 167A, 271-81 (2015).
Beckers, A. et al. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
Chen, S., Mattei, P., You, J., Sobreira, N. L. & Hinds, G. A. γ-Secretase Mutation in an African American Family With Hidradenitis Suppurativa. JAMA Dermatol 151, 668-70 (2015).
2016
Strauss, R. W. et al. Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence tomography. Br J Ophthalmol 100, 956-962 (2016).
Mirzaa, G. M. et al. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol 73, 836-845 (2016).
Chen, D. - H. et al. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Am J Hum Genet 98, 1146-1158 (2016).
Lindstrand, A. et al. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet 99, 318-36 (2016).
Kornilov, S. A. et al. Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population. Pediatrics 137, (2016).
Petrovski, S. et al. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet 98, 1001-1010 (2016).
Iacovazzo, D. et al. Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathol Commun 4, 56 (2016).
Shah, K. et al. Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. BMC Med Genet 17, 13 (2016).
Gomez-Ospina, N. et al. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun 7, 10713 (2016).
Bosch, D. G. M. et al. Novel genetic causes for cerebral visual impairment. Eur J Hum Genet 24, 660-5 (2016).
Ullah, R. et al. Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. Int J Dermatol 55, 524-30 (2016).
Kapferer-Seebacher, I. et al. Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. Am J Hum Genet 99, 1005-1014 (2016).
Zaki, M. S. et al. PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. Ann Neurol 80, 59-70 (2016).
Harel, T. et al. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet 99, 831-845 (2016).
Vilarinho, S. et al. Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. Hepatology 63, 1977-86 (2016).
Daly, A. F. et al. Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects. Endocr Relat Cancer 23, 221-33 (2016).
Levinsohn, J. L., Sugarman, J. L., McNiff, J. M., Antaya, R. J. & Choate, K. A. Somatic Mutations in NEK9 Cause Nevus Comedonicus. Am J Hum Genet 98, 1030-1037 (2016).
2017
Duerrschmid, C. et al. Asprosin is a centrally acting orexigenic hormone. Nat Med 23, 1444-1453 (2017).

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