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γ-Secretase Mutation in an African American Family With Hidradenitis Suppurativa. JAMA Dermatol 151, 668-70 (2015).
Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus. J Endocr Soc 2, 1100-1108 (2018).
Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus. J Endocr Soc 2, 1100-1108 (2018).
Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus. J Endocr Soc 2, 1100-1108 (2018).
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat 41, 150-168 (2020).
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat 41, 150-168 (2020).
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat 41, 150-168 (2020).
X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A 182, 1387-1399 (2020).
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A 182, 1387-1399 (2020).
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A 182, 1387-1399 (2020).
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet 102, 27-43 (2018).
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet 102, 27-43 (2018).
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet 102, 27-43 (2018).
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. Hum Mutat 38, 180-192 (2017).
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet 92, 137-43 (2013).
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet 92, 137-43 (2013).
Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. J Invest Dermatol 133, 827-830 (2013).
Whole-Exome Sequencing Reveals Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report. Mol Syndromol 8, 272-277 (2017).
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. Eur J Hum Genet 22, 1145-8 (2014).
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-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late. Clin Genet 98, 477-485 (2020).
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 novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertil Steril 104, 286-91 (2015).
Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab 100, E140-7 (2015).
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol 29, 2348-2361 (2018).
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol 29, 2348-2361 (2018).
Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum. Clin Genet 84, 394-5 (2013).
Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum. Clin Genet 84, 394-5 (2013).
Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum. Clin Genet 84, 394-5 (2013).
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol 30, 201-215 (2019).
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol 30, 201-215 (2019).