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Z
Carapito, R. et al. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 104, 319-330 (2019).
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Hijazi, H. et al. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat 41, 150-168 (2020).
Beckers, A. et al. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
Agopian, A. J. et al. X-chromosome association studies of congenital heart defects. Am J Med Genet A 182, 250-254 (2020).
W
Coban-Akdemir, Z. H. et al. 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).
Nilsson, D. et al. 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).
Somineni, H. K. et al. Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
Somineni, H. K. et al. Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
Below, J. E. et al. Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet 92, 137-43 (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).
Pehlivan, D. et al. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. Eur J Hum Genet 22, 1145-8 (2014).
Bekheirnia, M. Reza et al. 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).
Bekheirnia, M. Reza et al. 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).
Alodaib, A. et al. Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. Eur J Hum Genet 25, 79-84 (2016).
Ramasamy, R. et al. Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertil Steril 104, 286-91 (2015).
Alrohaif, H. et al. Whole-exome sequencing identifies mutations in in a mild form of Carey-Fineman-Ziter syndrome. Neurol Genet 4, e226 (2018).
Karaca, E. et al. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab 100, E140-7 (2015).
Karaca, E. et al. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab 100, E140-7 (2015).
van der Ven, A. T. et al. 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).
van der Ven, A. T. et al. 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).
van der Ven, A. T. et al. 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).
van der Ven, A. T. et al. 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).
van der Ven, A. T. et al. 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).
Caglayan, A. O. et al. Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum. Clin Genet 84, 394-5 (2013).
Mann, N. et al. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol 30, 201-215 (2019).
Mann, N. et al. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol 30, 201-215 (2019).
Warejko, J. K. et al. Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome. Hypertension 71, 691-699 (2018).
Warejko, J. K. et al. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol 13, 53-62 (2018).
Li, A. H. et al. Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome Med 9, 95 (2017).
Yu, L. et al. Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. J Med Genet 51, 197-202 (2014).
Yu, L. et al. Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. J Med Genet 51, 197-202 (2014).
Yu, L. et al. Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. J Med Genet 51, 197-202 (2014).
Garg, A., Kircher, M., Del Campo, M., R Amato, S. & Agarwal, A. K. Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. Am J Med Genet A 167A, 1796-806 (2015).
Garg, A., Kircher, M., Del Campo, M., R Amato, S. & Agarwal, A. K. Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. Am J Med Genet A 167A, 1796-806 (2015).
Braun, D. A. et al. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int 89, 468-475 (2016).
Braun, D. A. et al. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int 89, 468-475 (2016).
Collison, F. T. et al. Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy. Ophthalmic Genet 36, 270-5 (2015).
Jobst-Schwan, T. et al. Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. Kidney Int 97, 567-579 (2020).
Qiao, D. et al. Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. Hum Mol Genet 27, 3801-3812 (2018).
Qiao, D. et al. Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. Hum Mol Genet 27, 3801-3812 (2018).
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Castel, S. E., Aguet, F., Mohammadi, P., Ardlie, K. G. & Lappalainen, T. A vast resource of allelic expression data spanning human tissues. Genome Biol 21, 234 (2020).
Castel, S. E., Aguet, F., Mohammadi, P., Ardlie, K. G. & Lappalainen, T. A vast resource of allelic expression data spanning human tissues. Genome Biol 21, 234 (2020).
O'Grady, G. L. et al. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. Am J Hum Genet 99, 1086-1105 (2016).
Ullah, I. et al. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet 138, 593-600 (2019).
Ullah, I. et al. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet 138, 593-600 (2019).
Ullah, I. et al. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet 138, 593-600 (2019).
Ullah, I. et al. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet 138, 593-600 (2019).
Ullah, I. et al. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet 138, 593-600 (2019).
Muir, A. M. et al. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med 23, 881-887 (2021).
Muir, A. M. et al. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med 23, 881-887 (2021).

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