Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A 173, 2789-2794 (2017).
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. Am J Hum Genet 99, 337-51 (2016).
Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. Circ Cardiovasc Genet 10, e001449 (2017).
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families. J Eur Acad Dermatol Venereol 30, e210-e213 (2016).
Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet 94, 80-6 (2014).
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nat Genet 47, 528-34 (2015).
Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations. J Clin Res Pediatr Endocrinol 9, 95-100 (2017).
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. Am J Hum Genet 95, 227-34 (2014).
Rhombencephalosynapsis: Fused cerebellum, confused geneticists. Am J Med Genet C Semin Med Genet 178, 432-439 (2018).
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. Am J Med Genet A 173, 2275-2279 (2017).
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. Eur J Hum Genet 25, 79-84 (2016).
Whole-exome sequencing identifies mutations in in a mild form of Carey-Fineman-Ziter syndrome. Neurol Genet 4, e226 (2018).
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. J Med Genet 52, 676-80 (2015).
Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability. Eur J Hum Genet 24, 1223-7 (2016).
Mutation of ATF6 causes autosomal recessive achromatopsia. Hum Genet 134, 941-50 (2015).
matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat 39, 1827-1834 (2018).
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 123, 5179-89 (2013).
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. Hum Mutat 36, 1009-1014 (2015).
Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate. Genet Epidemiol 40, 432-41 (2016).
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet 52, 514-22 (2015).
KIAA0586 is Mutated in Joubert Syndrome. Hum Mutat 36, 831-5 (2015).
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. Clin Genet 92, 158-165 (2017).
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. Am J Med Genet A 173, 2415-2421 (2017).
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A 158A, 1523-5 (2012).
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. Clin Exp Immunol 178, 459-69 (2014).
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab 100, E808-14 (2015).
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. Am J Med Genet A 167A, 2132-7 (2015).
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Invest 126, 762-78 (2016).
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A 164A, 2328-34 (2014).
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet 101, 149-156 (2017).
FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A 167A, 831-6 (2015).
Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet 11, e1005050 (2015).
X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med 19, 412-420 (2017).
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet 92, 137-43 (2013).
New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation. J Dermatol 42, 821-2 (2015).
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. Am J Med Genet A 170A, 156-61 (2016).
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet 98, 579-587 (2016).
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).
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 90, 925-33 (2012).
Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest 127, 1772-1785 (2017).
Collapsing glomerulopathy in a young woman with APOL1 risk alleles following acute parvovirus B19 infection: a case report investigation. BMC Nephrol 17, 125 (2016).
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. Hum Mutat 39, 378-382 (2018).
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc Natl Acad Sci U S A 110, 3489-94 (2013).
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. Gastroenterology 148, 771-782.e11 (2015).
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med 4, 77-94 (2016).
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet 95, 143-61 (2014).
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res 23, 1383-94 (2013).
Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med 15, 45-54 (2013).
NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet 94, 303-9 (2014).