The Experts below are selected from a list of 17691 Experts worldwide ranked by ideXlab platform
John E Niederhuber - One of the best experts on this subject based on the ideXlab platform.
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Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
American journal of medical genetics. Part A, 2015Co-Authors: Benjamin D Solomon, Dale L Bodian, Alina Khromykh, Gabriela Gomez Mora, Brendan C Lanpher, Ramaswamy K Iyer, Rajiv Baveja, Joseph G Vockley, John E NiederhuberAbstract:Rubinstein-Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving CREBBP or, less commonly, EP300. To date, only 15 patients with EP300 mutations have been Clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congenital anomalies are less frequently reported. We describe a child found to have a de novo EP300 mutation (c.4933C>T, predicted to result in p.Arg1645X) through research-based whole-genome sequencing of the family trio. The child's presentation involved dysmorphic features as well as unilateral renal agenesis, a myelomeningocele, and minor genitourinary anomalies. The involvement of congenital anomalies in all 16 Clinically described patients with EP300 mutations (25% of which have been identified by "hypothesis free" methods, including microarray, exome, and whole-genome sequencing) is reviewed. In summary, genitourinary anomalies have been identified in 38%, cardiovascular anomalies in 25%, spinal/vertebral anomalies in 19%, other skeletal anomalies in 19%, brain anomalies in 13%, and renal anomalies in 6%. Our patient expands the phenotypic spectrum in EP300-related RSTS; this case demonstrates the evolving practice of Clinical Genomics related to increasing availability of genomic sequencing methods.
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Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
American Journal of Medical Genetics Part A, 2015Co-Authors: Benjamin D Solomon, Dale L Bodian, Alina Khromykh, Gabriela Gomez Mora, Brendan C Lanpher, Ramaswamy K Iyer, Rajiv Baveja, Joseph G Vockley, John E NiederhuberAbstract:Rubinstein–Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving CREBBP or, less commonly, EP300. To date, only 15 patients with EP300 mutations have been Clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congenital anomalies are less frequently reported. We describe a child found to have a de novo EP300 mutation (c.4933C>T, predicted to result in p.Arg1645X) through research-based whole-genome sequencing of the family trio. The child's presentation involved dysmorphic features as well as unilateral renal agenesis, a myelomeningocele, and minor genitourinary anomalies. The involvement of congenital anomalies in all 16 Clinically described patients with EP300 mutations (25% of which have been identified by “hypothesis free” methods, including microarray, exome, and whole-genome sequencing) is reviewed. In summary, genitourinary anomalies have been identified in 38%, cardiovascular anomalies in 25%, spinal/vertebral anomalies in 19%, other skeletal anomalies in 19%, brain anomalies in 13%, and renal anomalies in 6%. Our patient expands the phenotypic spectrum in EP300-related RSTS; this case demonstrates the evolving practice of Clinical Genomics related to increasing availability of genomic sequencing methods. © 2015 Wiley Periodicals, Inc.
Benjamin D Solomon - One of the best experts on this subject based on the ideXlab platform.
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Holoprosencephaly: A Clinical Genomics perspective.
American journal of medical genetics. Part C Seminars in medical genetics, 2018Co-Authors: Benjamin D Solomon, Kyle Retterer, Jane JuusolaAbstract:New and rapidly evolving technologies have dramatically impacted the practice of Clinical genetics as well as broader areas of medicine. To illustrate this trend from the perspective of a Clinical molecular laboratory, we briefly summarize our general experience conducting exome testing for patients with holoprosencephaly (HPE). Though these cases are not representative of HPE more generally (i.e., cases undergoing exome sequencing represent a skewed sample), results include a 22% positive rate from exome testing. Of interest, 29% of reported results involved genes not considered to be classic HPE genes, indicating more evidence that HPE may fall within the severe spectrum of many other genetic conditions.
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Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
American journal of medical genetics. Part A, 2015Co-Authors: Benjamin D Solomon, Dale L Bodian, Alina Khromykh, Gabriela Gomez Mora, Brendan C Lanpher, Ramaswamy K Iyer, Rajiv Baveja, Joseph G Vockley, John E NiederhuberAbstract:Rubinstein-Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving CREBBP or, less commonly, EP300. To date, only 15 patients with EP300 mutations have been Clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congenital anomalies are less frequently reported. We describe a child found to have a de novo EP300 mutation (c.4933C>T, predicted to result in p.Arg1645X) through research-based whole-genome sequencing of the family trio. The child's presentation involved dysmorphic features as well as unilateral renal agenesis, a myelomeningocele, and minor genitourinary anomalies. The involvement of congenital anomalies in all 16 Clinically described patients with EP300 mutations (25% of which have been identified by "hypothesis free" methods, including microarray, exome, and whole-genome sequencing) is reviewed. In summary, genitourinary anomalies have been identified in 38%, cardiovascular anomalies in 25%, spinal/vertebral anomalies in 19%, other skeletal anomalies in 19%, brain anomalies in 13%, and renal anomalies in 6%. Our patient expands the phenotypic spectrum in EP300-related RSTS; this case demonstrates the evolving practice of Clinical Genomics related to increasing availability of genomic sequencing methods.
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Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
American Journal of Medical Genetics Part A, 2015Co-Authors: Benjamin D Solomon, Dale L Bodian, Alina Khromykh, Gabriela Gomez Mora, Brendan C Lanpher, Ramaswamy K Iyer, Rajiv Baveja, Joseph G Vockley, John E NiederhuberAbstract:Rubinstein–Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving CREBBP or, less commonly, EP300. To date, only 15 patients with EP300 mutations have been Clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congenital anomalies are less frequently reported. We describe a child found to have a de novo EP300 mutation (c.4933C>T, predicted to result in p.Arg1645X) through research-based whole-genome sequencing of the family trio. The child's presentation involved dysmorphic features as well as unilateral renal agenesis, a myelomeningocele, and minor genitourinary anomalies. The involvement of congenital anomalies in all 16 Clinically described patients with EP300 mutations (25% of which have been identified by “hypothesis free” methods, including microarray, exome, and whole-genome sequencing) is reviewed. In summary, genitourinary anomalies have been identified in 38%, cardiovascular anomalies in 25%, spinal/vertebral anomalies in 19%, other skeletal anomalies in 19%, brain anomalies in 13%, and renal anomalies in 6%. Our patient expands the phenotypic spectrum in EP300-related RSTS; this case demonstrates the evolving practice of Clinical Genomics related to increasing availability of genomic sequencing methods. © 2015 Wiley Periodicals, Inc.
Rajiv Baveja - One of the best experts on this subject based on the ideXlab platform.
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Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
American journal of medical genetics. Part A, 2015Co-Authors: Benjamin D Solomon, Dale L Bodian, Alina Khromykh, Gabriela Gomez Mora, Brendan C Lanpher, Ramaswamy K Iyer, Rajiv Baveja, Joseph G Vockley, John E NiederhuberAbstract:Rubinstein-Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving CREBBP or, less commonly, EP300. To date, only 15 patients with EP300 mutations have been Clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congenital anomalies are less frequently reported. We describe a child found to have a de novo EP300 mutation (c.4933C>T, predicted to result in p.Arg1645X) through research-based whole-genome sequencing of the family trio. The child's presentation involved dysmorphic features as well as unilateral renal agenesis, a myelomeningocele, and minor genitourinary anomalies. The involvement of congenital anomalies in all 16 Clinically described patients with EP300 mutations (25% of which have been identified by "hypothesis free" methods, including microarray, exome, and whole-genome sequencing) is reviewed. In summary, genitourinary anomalies have been identified in 38%, cardiovascular anomalies in 25%, spinal/vertebral anomalies in 19%, other skeletal anomalies in 19%, brain anomalies in 13%, and renal anomalies in 6%. Our patient expands the phenotypic spectrum in EP300-related RSTS; this case demonstrates the evolving practice of Clinical Genomics related to increasing availability of genomic sequencing methods.
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Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
American Journal of Medical Genetics Part A, 2015Co-Authors: Benjamin D Solomon, Dale L Bodian, Alina Khromykh, Gabriela Gomez Mora, Brendan C Lanpher, Ramaswamy K Iyer, Rajiv Baveja, Joseph G Vockley, John E NiederhuberAbstract:Rubinstein–Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving CREBBP or, less commonly, EP300. To date, only 15 patients with EP300 mutations have been Clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congenital anomalies are less frequently reported. We describe a child found to have a de novo EP300 mutation (c.4933C>T, predicted to result in p.Arg1645X) through research-based whole-genome sequencing of the family trio. The child's presentation involved dysmorphic features as well as unilateral renal agenesis, a myelomeningocele, and minor genitourinary anomalies. The involvement of congenital anomalies in all 16 Clinically described patients with EP300 mutations (25% of which have been identified by “hypothesis free” methods, including microarray, exome, and whole-genome sequencing) is reviewed. In summary, genitourinary anomalies have been identified in 38%, cardiovascular anomalies in 25%, spinal/vertebral anomalies in 19%, other skeletal anomalies in 19%, brain anomalies in 13%, and renal anomalies in 6%. Our patient expands the phenotypic spectrum in EP300-related RSTS; this case demonstrates the evolving practice of Clinical Genomics related to increasing availability of genomic sequencing methods. © 2015 Wiley Periodicals, Inc.
Joseph G Vockley - One of the best experts on this subject based on the ideXlab platform.
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Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
American journal of medical genetics. Part A, 2015Co-Authors: Benjamin D Solomon, Dale L Bodian, Alina Khromykh, Gabriela Gomez Mora, Brendan C Lanpher, Ramaswamy K Iyer, Rajiv Baveja, Joseph G Vockley, John E NiederhuberAbstract:Rubinstein-Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving CREBBP or, less commonly, EP300. To date, only 15 patients with EP300 mutations have been Clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congenital anomalies are less frequently reported. We describe a child found to have a de novo EP300 mutation (c.4933C>T, predicted to result in p.Arg1645X) through research-based whole-genome sequencing of the family trio. The child's presentation involved dysmorphic features as well as unilateral renal agenesis, a myelomeningocele, and minor genitourinary anomalies. The involvement of congenital anomalies in all 16 Clinically described patients with EP300 mutations (25% of which have been identified by "hypothesis free" methods, including microarray, exome, and whole-genome sequencing) is reviewed. In summary, genitourinary anomalies have been identified in 38%, cardiovascular anomalies in 25%, spinal/vertebral anomalies in 19%, other skeletal anomalies in 19%, brain anomalies in 13%, and renal anomalies in 6%. Our patient expands the phenotypic spectrum in EP300-related RSTS; this case demonstrates the evolving practice of Clinical Genomics related to increasing availability of genomic sequencing methods.
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Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
American Journal of Medical Genetics Part A, 2015Co-Authors: Benjamin D Solomon, Dale L Bodian, Alina Khromykh, Gabriela Gomez Mora, Brendan C Lanpher, Ramaswamy K Iyer, Rajiv Baveja, Joseph G Vockley, John E NiederhuberAbstract:Rubinstein–Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving CREBBP or, less commonly, EP300. To date, only 15 patients with EP300 mutations have been Clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congenital anomalies are less frequently reported. We describe a child found to have a de novo EP300 mutation (c.4933C>T, predicted to result in p.Arg1645X) through research-based whole-genome sequencing of the family trio. The child's presentation involved dysmorphic features as well as unilateral renal agenesis, a myelomeningocele, and minor genitourinary anomalies. The involvement of congenital anomalies in all 16 Clinically described patients with EP300 mutations (25% of which have been identified by “hypothesis free” methods, including microarray, exome, and whole-genome sequencing) is reviewed. In summary, genitourinary anomalies have been identified in 38%, cardiovascular anomalies in 25%, spinal/vertebral anomalies in 19%, other skeletal anomalies in 19%, brain anomalies in 13%, and renal anomalies in 6%. Our patient expands the phenotypic spectrum in EP300-related RSTS; this case demonstrates the evolving practice of Clinical Genomics related to increasing availability of genomic sequencing methods. © 2015 Wiley Periodicals, Inc.
Ramaswamy K Iyer - One of the best experts on this subject based on the ideXlab platform.
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Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
American journal of medical genetics. Part A, 2015Co-Authors: Benjamin D Solomon, Dale L Bodian, Alina Khromykh, Gabriela Gomez Mora, Brendan C Lanpher, Ramaswamy K Iyer, Rajiv Baveja, Joseph G Vockley, John E NiederhuberAbstract:Rubinstein-Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving CREBBP or, less commonly, EP300. To date, only 15 patients with EP300 mutations have been Clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congenital anomalies are less frequently reported. We describe a child found to have a de novo EP300 mutation (c.4933C>T, predicted to result in p.Arg1645X) through research-based whole-genome sequencing of the family trio. The child's presentation involved dysmorphic features as well as unilateral renal agenesis, a myelomeningocele, and minor genitourinary anomalies. The involvement of congenital anomalies in all 16 Clinically described patients with EP300 mutations (25% of which have been identified by "hypothesis free" methods, including microarray, exome, and whole-genome sequencing) is reviewed. In summary, genitourinary anomalies have been identified in 38%, cardiovascular anomalies in 25%, spinal/vertebral anomalies in 19%, other skeletal anomalies in 19%, brain anomalies in 13%, and renal anomalies in 6%. Our patient expands the phenotypic spectrum in EP300-related RSTS; this case demonstrates the evolving practice of Clinical Genomics related to increasing availability of genomic sequencing methods.
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Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
American Journal of Medical Genetics Part A, 2015Co-Authors: Benjamin D Solomon, Dale L Bodian, Alina Khromykh, Gabriela Gomez Mora, Brendan C Lanpher, Ramaswamy K Iyer, Rajiv Baveja, Joseph G Vockley, John E NiederhuberAbstract:Rubinstein–Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving CREBBP or, less commonly, EP300. To date, only 15 patients with EP300 mutations have been Clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congenital anomalies are less frequently reported. We describe a child found to have a de novo EP300 mutation (c.4933C>T, predicted to result in p.Arg1645X) through research-based whole-genome sequencing of the family trio. The child's presentation involved dysmorphic features as well as unilateral renal agenesis, a myelomeningocele, and minor genitourinary anomalies. The involvement of congenital anomalies in all 16 Clinically described patients with EP300 mutations (25% of which have been identified by “hypothesis free” methods, including microarray, exome, and whole-genome sequencing) is reviewed. In summary, genitourinary anomalies have been identified in 38%, cardiovascular anomalies in 25%, spinal/vertebral anomalies in 19%, other skeletal anomalies in 19%, brain anomalies in 13%, and renal anomalies in 6%. Our patient expands the phenotypic spectrum in EP300-related RSTS; this case demonstrates the evolving practice of Clinical Genomics related to increasing availability of genomic sequencing methods. © 2015 Wiley Periodicals, Inc.