Xi Luo
PhD
Assistant Clinical Director
Dr. Xi Luo serves as an Assistant Clinical Director at Baylor Genetics. In his current role, Dr. Luo’s primary specialties are hereditary cancer gene panels, gene-disease clinical validity curation, RNA sequencing, and clinical whole exome and genome sequencing. In addition to his role at Baylor Genetics (BG), Dr. Luo is an Assistant Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine (BCM).
Dr. Luo received his bachelor’s degree in biology from Nankai University in Tianjin, China, and his master’s in biochemistry from the University of Rochester in Rochester, NY. After obtaining his master’s degree, Dr. Luo attended graduate school and received his PhD in biophysics from Cornell University in Ithaca, NY where he studied structural biology. After graduation, Dr. Luo moved to Houston and completed his fellowship in Dr. Hugo J. Bellen’s Lab at BCM, where he was part of the Undiagnosed Diseases Network team.
Later, Dr. Luo joined the Clinical Genome Resource (ClinGen), a National Institutes of Health-funded resource initiative, as a staff scientist working with Dr. Sharon Plon at BCM and Texas Children’s Hospital. At ClinGen, Dr. Luo led many hereditary cancer gene and variant curation expert panels for the development of gene/disease-specific variant interpretation guidelines and held pivotal positions in several ClinGen central working groups and committees.
After the successful conclusion of the Laboratory Genetics and Genomics (LGG) fellowship at BG and BCM in 2023, he obtained his American Board of Medical Genetics and Genomics (ABMGG) LGG board certification. Dr. Luo has been involved in multiple research projects and has authored numerous peer-reviewed articles in prestigious journals.
Position
Assistant Professor
Department of Molecular and Human Genetics
Baylor College of Medicine
Houton, TX, United States
Assistant Clinical Director
NGS/Molecular
Baylor Genetics
Houston, TX, United States
Education
PhD from Cornell University
Ithaca, NY, United States
MS from University of Rochester
Rochester, NY
BS from Nankai University
Tianjin, China
Certifications
Laboratory Genetics & Genomics
American Board of Medical Genetics and Genomics
Publications
OPTIMIZING CLINICAL CARE THROUGH CDH1-SPECIFIC GERMLINE VARIANT CURATION: IMPROVEMENT OF CLINICAL ASSERTIONS AND UPDATED CURATION GUIDELINES.
Optimizing clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines. Xi Luo, Jamie L. Maciaszek, Bryony A. Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E. Roberts, Kristy Lee, Amanda B. Spurdle, Arjen R. Mensenkamp, Terra Brannan, Carolina Pardo, Liying Zhang, Tina Pesaran, Sainan Wei, Grace-Ann Fasaye, Chimene Kesserwan, Brian H. Shirts, Jeremy L. Davis, Carla Oliveira, Sharon E. Plon, Kasmintan A. Schrader, Rachid Karam. Journal of Medical Genetics. 2022 Dec 7. PMID: 36600593
REVISION OF RUNX1 VARIANT CURATION RULES.
Revision of RUNX1 variant curation rules. Luo X, Feurstein S, Shah M, Walker T, Mehta N, Wu D, Godley LA. Blood Advances. 2022 Aug 23; 6(16):4726-4730. PMID: 35764482.
DROSOPHILA FUNCTIONAL SCREENING OF DE NOVO VARIANTS IN AUTISM UNCOVERS DAMAGING VARIANTS AND FACILITATES DISCOVERY OF RARE NEURODEVELOPMENTAL DISEASES.
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Fehr S, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keren B, Courtin T, Perrin L, Brugger M, Roser T, Leiz S, Mau-Them FT, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S. Cell Report. 2022 Mar 15; 38(11):110517. PMID: 35294868.
CLINGEN VARIANT CURATION INTERFACE: A VARIANT CLASSIFICATION PLATFORM FOR THE APPLICATION OF EVIDENCE CRITERIA FROM ACMG/AMP GUIDELINES.
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines. Preston CG, Wright MW, Madhavrao R, Harrison SM, Goldstein JL, Luo X, Wand H, Wulf B, Cheung G, Mandell ME, Tong H, Cheng S, Iacocca MA, Pineda AL, Popejoy AB, Dalton K, Zhen J, Dwight SS, Babb L, DiStefano M, O’Daniel JM, Lee K, Riggs ER, Zastrow DB, Mester JL, Ritter DI, Patel RY, Subramanian SL, Milosavljevic A, Berg JS, Rehm HL, Plon SE, Cherry JM, Bustamante CD, Costa HA; Clinical Genome Resource. Genome Medicine. 2022 Jan 18;14(1):6. PMID: 35039090.
UTILIZING CLINGEN GENE-DISEASE VALIDITY AND DOSAGE SENSITIVITY CURATIONS TO INFORM VARIANT CLASSIFICATION.
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification. Thaxton C, Good ME, DiStefano MT, Luo X, Andersen EF, Thorland E, Berg J, Martin CL, Rehm HL, Riggs ER; ClinGen Gene Curation Working Group; ClinGen Dosage Sensitivity Working Group. Human Mutation. 2022 Aug;43(8); PMID: 34694049.
RARE DELETERIOUS DE NOVO MISSENSE VARIANTS IN RNF2/RING2 ARE ASSOCIATED WITH A NEURODEVELOPMENTAL DISORDER WITH UNIQUE CLINICAL FEATURES.
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. Luo X, Schoch K, Jangam SV, Bhavana VH, Graves HK, Kansagra S, Jasien JM, Stong N, Keren B, Mignot C, Ravelli C; Undiagnosed Diseases Network, Bellen HJ, Wangler MF, Shashi V, Yamamoto S. Human Molecular Genetics. 2021 Jun 26;30(14):1283-1292. PMID: 33864376.
HOW I CURATE: APPLYING AMERICAN SOCIETY OF HEMATOLOGY-CLINICAL GENOME RESOURCE MYELOID MALIGNANCY VARIANT CURATION EXPERT PANEL RULES FOR RUNX1 VARIANT CURATION FOR GERMLINE PREDISPOSITION TO MYELOID MALIGNANCIES.
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies. Luo X, Wu D, Feurstein S, Kesserwan C, Mohan S, Pineda-Alvarez DE, Godley LA. Haematologica 2020 April; 105(4):870- 887. PMID: 32165484.
RECOMMENDATIONS FOR APPLICATION OF THE FUNCTIONAL EVIDENCE PS3/BS3 CRITERION USING THE ACMG/AMP SEQUENCE VARIANT INTERPRETATION FRAMEWORK.
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework. Brnich SE, Abou Tayoun AN, Couch FJ, Cutting GR, Greenblatt MS, Heinen CD, Kanavy DM, Luo X, McNulty SM, Starita LM, Tavtigian SV, Wright MW, Harrison SM, Biesecker LG, Berg JS. Genome Medicine. 2019 December 31;12(1):3. PMID: 31892348.
CLINGEN MYELOID MALIGNANCY VARIANT CURATION EXPERT PANEL RECOMMENDATIONS FOR GERMLINE RUNX1 VARIANTS.
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Luo X, Feurstein S, Mohan S, Porter CC, Jackson SA, Keel S, Chicka M, Brown AL, Kesserwan C, Agarwal A, Luo M, Li Z, Ross JE, Baliakas P, Pineda-Alvarez D, DiNardo CD, Bertuch AA, Mehta N, Vulliamy T, Wang Y, Nichols KE, Malcovati L, Walsh MF, Rawlings LH, McWeeney SK, Soulier J, Raimbault A, Routbort MJ, Zhang L, Ryan G, Speck NA, Plon SE, Wu D, Godley LA. Blood Advances. 2019 October 22;3(20):2962-2979. PMID: 31648317.
MYELOID MALIGNANCY VARIANT CURATION EXPERT PANEL: AN ASH-CLINGEN EXPERT PANEL TO OPTIMIZE AND VALIDATE ACMG/AMP VARIANT INTERPRETATION GUIDELINES FOR GENES ASSOCIATED WITH INHERITED MYELOID NEOPLASMS.
Myeloid Malignancy Variant Curation Expert Panel: An ASH-ClinGen Expert Panel to Optimize and Validate ACMG/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms. Xi Luo, Justyne Ross, Sarah Jackson, Anupriya Agarwal, Panagiotis Baliakas, Alison A. Bertuch, Anna L. Brown, Michael C. Chicka, Courtney D. DiNardo, Mark D. Fleming, Sioban Keel, Chimene Kesserwan, Zejuan Li, Minjie Luo, Luca Malcovati, Shannon K. McWeeney, Kim E. Nichols, Christopher C. Porter, Anna Raimbault, Lesley Rawlings, Mark Routbort, Gabriella Ryan, Jean Soulier, Nancy E. Speck, Tom Vulliamy, Michael Francis Walsh, Ying Wang, Liying Zhang, Sharon Plon, David Wu and Lucy Godley.Blood 2018; 132:5849. ISSN 0006-4971.
EFFECT OF GENETIC DIAGNOSIS ON PATIENTS WITH PREVIOUSLY UNDIAGNOSED DISEASE.
Effect of genetic diagnosis on patients with previously undiagnosed disease. Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; New England Journal of Medicine 2018; 379:2131-2139. PMID: 30304647.
FUNCTIONAL VARIANTS IN TBX2 ARE ASSOCIATED WITH A SYNDROMIC CARDIOVASCULAR AND SKELETAL DEVELOPMENTAL DISORDER.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental Disorder. Luo X. Liu N, Schoch K*, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S; Undiagnosed Diseases Network (UDN), Wangler MF, Bellen HJ, Shashi V, Yamamoto S Human Molecular Genetics (2018) 27(14):2454-2465. PMID: 29726930.
CLINICALLY SEVERE CACNA1A ALLELES AFFECT SYNAPTIC FUNCTION AND NEURODEGENERATION DIFFERENTIALLY.
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF; Members of the UDN. PLoS Genetics 2018. Jul 15;27(14):2454-2465. PMID: 28742085.
STRUCTURE OF A LEGIONELLA VIRULENCE FACTOR REVEALS A UNIQUE PI(4)P BINDING DOMAIN FOR PHAGOSOME TARGETING.
Structure of a Legionella virulence factor reveals a unique PI(4)P binding domain for phagosome targeting. Luo X, Wasilko DJ, Liu Y, Sun JY, Wu XC, Luo ZQ, Mao Y. PLoS Pathog. 2015 Jun 12;11(6). PMID: 26067986.
THE LEGIONELLA EFFECTOR SIDC DEFINES A UNIQUE FAMILY OF UBIQUITIN LIGASES IMPORTANT FOR BACTERIAL PHAGOSOMAL REMODELING.
The Legionella effector SidC defines a unique family of ubiquitin ligases important for bacterial phagosomal remodeling. Luo X, Hsu F, Qiu J, Teng YB, Jin J, Smolka MB, Luo ZQ, Mao Y. Proc Natl Acad Sci U S A. 2014 Jul 22;111(29):10538-43. PMID: 25006264.
THE STRUCTURAL BASIS FOR ACTIVATION OF PLANT IMMUNITY BY BACTERIAL EFFECTOR PROTEIN AVRPTO.
The structural basis for activation of plant immunity by bacterial effector protein AvrPto. Xing W, Zou Y, Liu Q, Liu J, Luo X, Huang Q, Chen S, Zhu L, Bi R, Hao Q, Wu JW, Zhou JM, Chai J. Nature. 2014 Jul 22;111(29):10538-43. PMID: 17694048.
Xi Luo
PhD
Assistant Clinical Director
Dr. Xi Luo serves as an Assistant Clinical Director at Baylor Genetics. In his current role, Dr. Luo’s primary specialties are hereditary cancer gene panels, gene-disease clinical validity curation, RNA sequencing, and clinical whole exome and genome sequencing. In addition to his role at Baylor Genetics (BG), Dr. Luo is an Assistant Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine (BCM).
Dr. Luo received his bachelor’s degree in biology from Nankai University in Tianjin, China, and his master’s in biochemistry from the University of Rochester in Rochester, NY. After obtaining his master’s degree, Dr. Luo attended graduate school and received his PhD in biophysics from Cornell University in Ithaca, NY where he studied structural biology. After graduation, Dr. Luo moved to Houston and completed his fellowship in Dr. Hugo J. Bellen’s Lab at BCM, where he was part of the Undiagnosed Diseases Network team.
Later, Dr. Luo joined the Clinical Genome Resource (ClinGen), a National Institutes of Health-funded resource initiative, as a staff scientist working with Dr. Sharon Plon at BCM and Texas Children’s Hospital. At ClinGen, Dr. Luo led many hereditary cancer gene and variant curation expert panels for the development of gene/disease-specific variant interpretation guidelines and held pivotal positions in several ClinGen central working groups and committees.
After the successful conclusion of the Laboratory Genetics and Genomics (LGG) fellowship at BG and BCM in 2023, he obtained his American Board of Medical Genetics and Genomics (ABMGG) LGG board certification. Dr. Luo has been involved in multiple research projects and has authored numerous peer-reviewed articles in prestigious journals.
Position
Assistant Professor
Department of Molecular and Human Genetics
Baylor College of Medicine
Houton, TX, United States
Assistant Clinical Director
NGS/Molecular
Baylor Genetics
Houston, TX, United States
Education
PhD from Cornell University
Ithaca, NY, United States
MS from University of Rochester
Rochester, NY
BS from Nankai University
Tianjin, China
Certifications
Laboratory Genetics & Genomics
American Board of Medical Genetics and Genomics
Publications
OPTIMIZING CLINICAL CARE THROUGH CDH1-SPECIFIC GERMLINE VARIANT CURATION: IMPROVEMENT OF CLINICAL ASSERTIONS AND UPDATED CURATION GUIDELINES.
Optimizing clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines. Xi Luo, Jamie L. Maciaszek, Bryony A. Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E. Roberts, Kristy Lee, Amanda B. Spurdle, Arjen R. Mensenkamp, Terra Brannan, Carolina Pardo, Liying Zhang, Tina Pesaran, Sainan Wei, Grace-Ann Fasaye, Chimene Kesserwan, Brian H. Shirts, Jeremy L. Davis, Carla Oliveira, Sharon E. Plon, Kasmintan A. Schrader, Rachid Karam. Journal of Medical Genetics. 2022 Dec 7. PMID: 36600593
REVISION OF RUNX1 VARIANT CURATION RULES.
Revision of RUNX1 variant curation rules. Luo X, Feurstein S, Shah M, Walker T, Mehta N, Wu D, Godley LA. Blood Advances. 2022 Aug 23; 6(16):4726-4730. PMID: 35764482.
DROSOPHILA FUNCTIONAL SCREENING OF DE NOVO VARIANTS IN AUTISM UNCOVERS DAMAGING VARIANTS AND FACILITATES DISCOVERY OF RARE NEURODEVELOPMENTAL DISEASES.
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Fehr S, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keren B, Courtin T, Perrin L, Brugger M, Roser T, Leiz S, Mau-Them FT, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S. Cell Report. 2022 Mar 15; 38(11):110517. PMID: 35294868.
CLINGEN VARIANT CURATION INTERFACE: A VARIANT CLASSIFICATION PLATFORM FOR THE APPLICATION OF EVIDENCE CRITERIA FROM ACMG/AMP GUIDELINES.
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines. Preston CG, Wright MW, Madhavrao R, Harrison SM, Goldstein JL, Luo X, Wand H, Wulf B, Cheung G, Mandell ME, Tong H, Cheng S, Iacocca MA, Pineda AL, Popejoy AB, Dalton K, Zhen J, Dwight SS, Babb L, DiStefano M, O’Daniel JM, Lee K, Riggs ER, Zastrow DB, Mester JL, Ritter DI, Patel RY, Subramanian SL, Milosavljevic A, Berg JS, Rehm HL, Plon SE, Cherry JM, Bustamante CD, Costa HA; Clinical Genome Resource. Genome Medicine. 2022 Jan 18;14(1):6. PMID: 35039090.
UTILIZING CLINGEN GENE-DISEASE VALIDITY AND DOSAGE SENSITIVITY CURATIONS TO INFORM VARIANT CLASSIFICATION.
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification. Thaxton C, Good ME, DiStefano MT, Luo X, Andersen EF, Thorland E, Berg J, Martin CL, Rehm HL, Riggs ER; ClinGen Gene Curation Working Group; ClinGen Dosage Sensitivity Working Group. Human Mutation. 2022 Aug;43(8); PMID: 34694049.
RARE DELETERIOUS DE NOVO MISSENSE VARIANTS IN RNF2/RING2 ARE ASSOCIATED WITH A NEURODEVELOPMENTAL DISORDER WITH UNIQUE CLINICAL FEATURES.
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. Luo X, Schoch K, Jangam SV, Bhavana VH, Graves HK, Kansagra S, Jasien JM, Stong N, Keren B, Mignot C, Ravelli C; Undiagnosed Diseases Network, Bellen HJ, Wangler MF, Shashi V, Yamamoto S. Human Molecular Genetics. 2021 Jun 26;30(14):1283-1292. PMID: 33864376.
HOW I CURATE: APPLYING AMERICAN SOCIETY OF HEMATOLOGY-CLINICAL GENOME RESOURCE MYELOID MALIGNANCY VARIANT CURATION EXPERT PANEL RULES FOR RUNX1 VARIANT CURATION FOR GERMLINE PREDISPOSITION TO MYELOID MALIGNANCIES.
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies. Luo X, Wu D, Feurstein S, Kesserwan C, Mohan S, Pineda-Alvarez DE, Godley LA. Haematologica 2020 April; 105(4):870- 887. PMID: 32165484.
RECOMMENDATIONS FOR APPLICATION OF THE FUNCTIONAL EVIDENCE PS3/BS3 CRITERION USING THE ACMG/AMP SEQUENCE VARIANT INTERPRETATION FRAMEWORK.
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework. Brnich SE, Abou Tayoun AN, Couch FJ, Cutting GR, Greenblatt MS, Heinen CD, Kanavy DM, Luo X, McNulty SM, Starita LM, Tavtigian SV, Wright MW, Harrison SM, Biesecker LG, Berg JS. Genome Medicine. 2019 December 31;12(1):3. PMID: 31892348.
CLINGEN MYELOID MALIGNANCY VARIANT CURATION EXPERT PANEL RECOMMENDATIONS FOR GERMLINE RUNX1 VARIANTS.
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Luo X, Feurstein S, Mohan S, Porter CC, Jackson SA, Keel S, Chicka M, Brown AL, Kesserwan C, Agarwal A, Luo M, Li Z, Ross JE, Baliakas P, Pineda-Alvarez D, DiNardo CD, Bertuch AA, Mehta N, Vulliamy T, Wang Y, Nichols KE, Malcovati L, Walsh MF, Rawlings LH, McWeeney SK, Soulier J, Raimbault A, Routbort MJ, Zhang L, Ryan G, Speck NA, Plon SE, Wu D, Godley LA. Blood Advances. 2019 October 22;3(20):2962-2979. PMID: 31648317.
MYELOID MALIGNANCY VARIANT CURATION EXPERT PANEL: AN ASH-CLINGEN EXPERT PANEL TO OPTIMIZE AND VALIDATE ACMG/AMP VARIANT INTERPRETATION GUIDELINES FOR GENES ASSOCIATED WITH INHERITED MYELOID NEOPLASMS.
Myeloid Malignancy Variant Curation Expert Panel: An ASH-ClinGen Expert Panel to Optimize and Validate ACMG/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms. Xi Luo, Justyne Ross, Sarah Jackson, Anupriya Agarwal, Panagiotis Baliakas, Alison A. Bertuch, Anna L. Brown, Michael C. Chicka, Courtney D. DiNardo, Mark D. Fleming, Sioban Keel, Chimene Kesserwan, Zejuan Li, Minjie Luo, Luca Malcovati, Shannon K. McWeeney, Kim E. Nichols, Christopher C. Porter, Anna Raimbault, Lesley Rawlings, Mark Routbort, Gabriella Ryan, Jean Soulier, Nancy E. Speck, Tom Vulliamy, Michael Francis Walsh, Ying Wang, Liying Zhang, Sharon Plon, David Wu and Lucy Godley.Blood 2018; 132:5849. ISSN 0006-4971.
EFFECT OF GENETIC DIAGNOSIS ON PATIENTS WITH PREVIOUSLY UNDIAGNOSED DISEASE.
Effect of genetic diagnosis on patients with previously undiagnosed disease. Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; New England Journal of Medicine 2018; 379:2131-2139. PMID: 30304647.
FUNCTIONAL VARIANTS IN TBX2 ARE ASSOCIATED WITH A SYNDROMIC CARDIOVASCULAR AND SKELETAL DEVELOPMENTAL DISORDER.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental Disorder. Luo X. Liu N, Schoch K*, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S; Undiagnosed Diseases Network (UDN), Wangler MF, Bellen HJ, Shashi V, Yamamoto S Human Molecular Genetics (2018) 27(14):2454-2465. PMID: 29726930.
CLINICALLY SEVERE CACNA1A ALLELES AFFECT SYNAPTIC FUNCTION AND NEURODEGENERATION DIFFERENTIALLY.
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF; Members of the UDN. PLoS Genetics 2018. Jul 15;27(14):2454-2465. PMID: 28742085.
STRUCTURE OF A LEGIONELLA VIRULENCE FACTOR REVEALS A UNIQUE PI(4)P BINDING DOMAIN FOR PHAGOSOME TARGETING.
Structure of a Legionella virulence factor reveals a unique PI(4)P binding domain for phagosome targeting. Luo X, Wasilko DJ, Liu Y, Sun JY, Wu XC, Luo ZQ, Mao Y. PLoS Pathog. 2015 Jun 12;11(6). PMID: 26067986.
THE LEGIONELLA EFFECTOR SIDC DEFINES A UNIQUE FAMILY OF UBIQUITIN LIGASES IMPORTANT FOR BACTERIAL PHAGOSOMAL REMODELING.
The Legionella effector SidC defines a unique family of ubiquitin ligases important for bacterial phagosomal remodeling. Luo X, Hsu F, Qiu J, Teng YB, Jin J, Smolka MB, Luo ZQ, Mao Y. Proc Natl Acad Sci U S A. 2014 Jul 22;111(29):10538-43. PMID: 25006264.
THE STRUCTURAL BASIS FOR ACTIVATION OF PLANT IMMUNITY BY BACTERIAL EFFECTOR PROTEIN AVRPTO.
The structural basis for activation of plant immunity by bacterial effector protein AvrPto. Xing W, Zou Y, Liu Q, Liu J, Luo X, Huang Q, Chen S, Zhu L, Bi R, Hao Q, Wu JW, Zhou JM, Chai J. Nature. 2014 Jul 22;111(29):10538-43. PMID: 17694048.