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P403: Role of comprehensive renal genetic testing in diagnosing a RMND-1 mitochondrial disease in two adult cases exhibiting variable disease phenotypes
by
Stein, Quinn
,
Mascarenhas, Ryan
,
Punj, Sumit
,
Westemeyer, Maggie
,
Hendricks, Emily
,
Pitman, Tessa
,
Hager, Meg
,
Baddar, Nour
,
Connors, Kristen
,
Bacher, Alexa
,
Larson, Robin
,
Zec, Lauren
,
Stoddard, Jennifer
Published in
Genetics in Medicine Open
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O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group
by
Lebo, Matthew
,
Steeves, Marcie
,
Benson, Katherine
,
Conlin, Laura
,
Ganapathi, Mythily
,
Jobanputra, Vaidehi
,
Luo, Minjie
,
Ma, Deqiong
,
McGoldrick, Kelly
,
Palculict, Blake
,
Rehm, Heidi
,
Sergouniotis, Panagiotis
,
Schilit, Samantha
,
Bayrak-Toydemir, Pinar
,
Tvrdik, Tatiana
,
Watkins, Nicholas
,
Zec, Lauren
,
Zhang, Wenying Zhang
,
Schmidt, Ryan
Published in
Genetics in Medicine Open
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P061: ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel
by
Holdren, Megan
,
Richardson, Marcy
,
Ritter, Deborah
,
Young, Colin
,
Brannan, Terra
,
Pesaran, Tina
,
Zec, Lauren
,
Hiraki, Susan
,
Anderson, Michael
,
Southey, Melissa
,
Turnbull, Clare
,
Tischkowitz, Marc
,
Rana, Huma
,
McNulty Gray, Shannon
,
Tavtigian, Sean
,
Walker, Logan
,
Foulkes, William
,
Monteiro, Alvaro
,
Brnich, Sarah
,
Cline, Melissa
,
Spurdle, Amanda
,
de la Hoya, Miguel
,
Couch, Fergus
Published in
Genetics in Medicine Open
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P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2
by
Parsons, Michael
,
Anderson, Michael
,
Berkofsky-Fessler, Windy
,
Caputo, Sandrine
,
Chan, Raymond
,
Cline, Melissa
,
Couch, Fergus
,
de la Hoya, Miguel
,
Feng, Bing-Jian
,
Goldgar, David
,
Gomez-Garcia, Encarna
,
Hiraki, Susan
,
Holdren, Megan
,
Houdayer, Claude
,
James, Paul
,
Karam, Rachid
,
San Leong, Huei
,
Martins, Alexandra
,
Mensenkamp, Arjen
,
Monteiro, Alvaro
,
Nathan, Vaishnavi
,
O'Connor, Robert
,
Pesaran, Tina
,
Radice, Paolo
,
Richardson, Marcy
,
Schmidt, Gunnar
,
Pedersen, Inge Sokilde
,
Southey, Melissa
,
Tavtigian, Sean
,
Thompson, Bryony
,
Toland, Amanda
,
Tudini, Emma
,
Turnbull, Clare
,
Vreeswijk, Maaike
,
Walker, Logan
,
Zec, Lauren
,
Spurdle, Amanda
Published in
Genetics in Medicine Open
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Qualitative and quantitative comparison of Thiel and phenol‐based soft‐embalmed cadavers for surgery training
by
Venne, Gabriel
,
Zec, Michelle L.
,
Welte, Lauren
,
Noel, Geoffroy P. J. C.
Published in
Anatomia, histologia, embryologia
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