Search Results - "Beek, Geoffrey"

Compound Heterozygosity of Dominant and Recessive COL7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications by Watson, Kendra D., Schoch, Jennifer J., Beek, Geoffrey J., Hand, Jennifer L.

“…An 8‐year‐old girl born to a family with more than three generations of dominant dystrophic epidermolysis bullosa (DDEB) presented with life‐threatening…”
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A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation by Blackburn, Patrick R., Williams, Monique, Cousin, Margot A., Boczek, Nicole J., Beek, Geoffrey J., Lomberk, Gwen A., Urrutia, Raul A., Babovic‐Vuksanovic, Dusica, Klee, Eric W.

“…Background Kleefstra Syndrome (KS) (MIM# 610253) is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase‐1…”
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A novel de novo frameshift deletion in EHMT 1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation by Blackburn, Patrick R., Williams, Monique, Cousin, Margot A., Boczek, Nicole J., Beek, Geoffrey J., Lomberk, Gwen A., Urrutia, Raul A., Babovic‐Vuksanovic, Dusica, Klee, Eric W.

“…Abstract Background Kleefstra Syndrome ( KS ) ( MIM # 610253) is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone…”
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Disease Impact and Burden in Patients with SCN2A-Related Developmental and Epileptic Encephalopathy (P11-9.012) by Dalby, Kelley, Snyder, Ted, Matthews, Lillian, Brimble, Elise, Beek, Geoffrey, Berk, Alexa, Oldham, Michael, Souza, Marcio, Petrou, Steven

“…Abstract only…”
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Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience by Lazaridis, Konstantinos N, Schahl, Kimberly A, Cousin, Margot A, Babovic-Vuksanovic, Dusica, Riegert-Johnson, Douglas L, Gavrilova, Ralitza H, McAllister, Tammy M, Lindor, Noralane M, Abraham, Roshini S, Ackerman, Michael J, Pichurin, Pavel N, Deyle, David R, Gavrilov, Dimitar K, Hand, Jennifer L, Klee, Eric W, Stephens, Michael C, Wick, Myra J, Atkinson, Elizabeth J, Linden, David R, Ferber, Matthew J, Wieben, Eric D, Farrugia, Gianrico

“…To describe the experience and outcome of performing whole-exome sequencing (WES) for resolution of patients on a diagnostic odyssey in the first 18 months of…”
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Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants by Boczek, Nicole J, Hopp, Katharina, Benoit, Lacey, Kraft, Daniel, Cousin, Margot A, Blackburn, Patrick R, Madsen, Charles D, Oliver, Gavin R, Nair, Asha A, Na, Jie, Bianchi, Diana W, Beek, Geoffrey, Harris, Peter C, Pichurin, Pavel, Klee, Eric W

“…Whole exome sequencing (WES) is utilized in diagnostic odyssey cases to identify the underlying genetic cause associated with complex phenotypes. Recent…”
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Compound Heterozygosity of Dominant and Recessive COL 7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications by Watson, Kendra D., Schoch, Jennifer J., Beek, Geoffrey J., Hand, Jennifer L.

“…Abstract An 8‐year‐old girl born to a family with more than three generations of dominant dystrophic epidermolysis bullosa ( DDEB ) presented with…”
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A manual of paediatric dentistry: R.J. Andlaw, W.P. Rock ; with illustrations by G.C. van Beek by Andlaw, R. J, Rock, W. P, Beek, Geoffrey C. van

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Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic by Lazaridis, Konstantinos N., MD, Schahl, Kimberly A., CGC, Cousin, Margot A., PhD, Babovic-Vuksanovic, Dusica, MD, Riegert-Johnson, Douglas L., MD, Gavrilova, Ralitza H., MD, McAllister, Tammy M., MA, Lindor, Noralane M., MD, Abraham, Roshini S., PhD, Ackerman, Michael J., MD, PhD, Pichurin, Pavel N., MD, Deyle, David R., MD, Gavrilov, Dimitar K., MD, PhD, Hand, Jennifer L., MD, Klee, Eric W., PhD, Stephens, Michael C., MD, Wick, Myra J., MD, PhD, Atkinson, Elizabeth J., MS, Linden, David R., PhD, Ferber, Matthew J., PhD, Wieben, Eric D., PhD, Farrugia, Gianrico, MD

“…Abstract Objective To describe the experience and outcome of performing whole-exome sequencing (WES) for resolution of patients on a diagnostic odyssey in the…”
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