Lucia Guidugli

Affiliations

Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.

Publications (12)

Novel variants in

Life science alliance

Avec: Douglas Jones , Jacob Hartung , Elizabeth Lasalle , Alejandro Borquez , Viridiana Murillo , Lucia Guidugli , Kiely N James , Stephen F Kingsmore , Nicole G Coufal

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

American journal of human genetics

Avec: Stephen F Kingsmore , Laurie D Smith , Chris M Kunard , Matthew Bainbridge , Sergey Batalov , Wendy Benson , Eric Blincow , Sara Caylor , Christina Chambers , Guillermo Del Angel , David P Dimmock , Yan Ding , Katarzyna Ellsworth , Annette Feigenbaum , Erwin Frise , Robert C Green , Lucia Guidugli , Kevin P Hall , Christian Hansen , Charlotte A Hobbs , Scott D Kahn , Mark Kiel , Lucita Van Der Kraan , Chad Krilow , Yong H Kwon , Lakshminarasimha Madhavrao , Jennie Le , Sebastien Lefebvre , Rebecca Mardach , William R Mowrey , Danny Oh , Mallory J Owen , George Powley , Gunter Scharer , Seth Shelnutt , Mari Tokita , Shyamal S Mehtalia , Albert Oriol , Stavros Papadopoulos , James Perry , Edwin Rosales , Erica Sanford , Steve Schwartz , Duke Tran , Martin G Reese , Meredith Wright , Narayanan Veeraraghavan , Kristen Wigby , Mary J Willis , Aaron R Wolen , Thomas Defay

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Miao Sun , Amy Knight Johnson , Viswateja Nelakuditi , Lucia Guidugli , David Fischer , Kelly Arndt , Lan Ma , Erin Sandford , Vikram Shakkottai , Kym Boycott , Jodi Warman-Chardon , Zejuan Li , Daniela Del Gaudio , Margit Burmeister , Christopher M Gomez , Darrel J Waggoner , Soma Das

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

Genome medicine

Avec: Francisco M De La Vega , Shimul Chowdhury , Barry Moore , Erwin Frise , Jeanette McCarthy , Edgar Javier Hernandez , Terence Wong , Kiely James , Lucia Guidugli , Pankaj B Agrawal , Casie A Genetti , Catherine A Brownstein , Alan H Beggs , Britt-Sabina Löscher , Andre Franke , Braden Boone , Shawn E Levy , Katrin Õunap , Sander Pajusalu , Matt Huentelman , Keri Ramsey , Marcus Naymik , Vinodh Narayanan , Narayanan Veeraraghavan , Paul Billings , Martin G Reese , Mark Yandell , Stephen F Kingsmore

Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Wenbo Mu , Bing Li , Sitao Wu , Jefferey Chen , Divya Sain , Dong Xu , Mary Helen Black , Rachid Karam , Katrina Gillespie , Kelly D Farwell Hagman , Lucia Guidugli , Melissa Pronold , Aaron Elliott , Hsiao-Mei Lu

Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.

Cold Spring Harbor molecular case studies

Avec: Paul R Mark , Stephen A Murray , Tao Yang , Alexandra Eby , Angela Lai , Di Lu , Jacob Zieba , Surender Rajasekaran , Elizabeth A VanSickle , Linda Z Rossetti , Lucia Guidugli , Kelly Watkins , Meredith S Wright , Caleb P Bupp , Jeremy W Prokop

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Heidi L Rehm , Joseph T Alaimo , Swaroop Aradhya , Pinar Bayrak-Toydemir , Hunter Best , Rhonda Brandon , Jillian G Buchan , Elizabeth C Chao , Elaine Chen , Jacob Clifford , Ana S A Cohen , Laura K Conlin , Soma Das , Kyle W Davis , Daniela Del Gaudio , Florencia Del Viso , Christina DiVincenzo , Marcia Eisenberg , Lucia Guidugli , Monia B Hammer , Steven M Harrison , Kathryn E Hatchell , Lindsay Havens Dyer , Lily U Hoang , James M Holt , Vaidehi Jobanputra , Izabela D Karbassi , Hutton M Kearney , Melissa A Kelly , Jacob M Kelly , Michelle L Kluge , Timothy Komala , Paul Kruszka , Lynette Lau , Matthew S Lebo , Christian R Marshall , Dianalee McKnight , Kirsty McWalter , Yan Meng , Narasimhan Nagan , Christian S Neckelmann , Nir Neerman , Zhiyv Niu , Vitoria K Paolillo , Sarah A Paolucci , Denise Perry , Tina Pesaran , Kelly Radtke , Kristen J Rasmussen , Kyle Retterer , Carol J Saunders , Elizabeth Spiteri , Christine Stanley , Anna Szuto , Ryan J Taft , Isabelle Thiffault , Brittany C Thomas , Amanda Thomas-Wilson , Erin Thorpe , Timothy J Tidwell , Meghan C Towne , Hana Zouk , Auteur inconnu

To Be or No B2: A Rare Cause of Stridor and Weakness in a Toddler.

Child neurology open

Avec: Aliya L Frederick , Jennifer H Yang , Sarah Schneider , Alexis Quade , Lucia Guidugli , Kristen Wigby , Melissa Cameron

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

Nature communications

Avec: Mallory J Owen , Sebastien Lefebvre , Christian Hansen , Chris M Kunard , David P Dimmock , Laurie D Smith , Gunter Scharer , Rebecca Mardach , Mary J Willis , Annette Feigenbaum , Anna-Kaisa Niemi , Yan Ding , Luca Van Der Kraan , Katarzyna Ellsworth , Lucia Guidugli , Bryan R Lajoie , Timothy K McPhail , Shyamal S Mehtalia , Kevin K Chau , Yong H Kwon , Zhanyang Zhu , Sergey Batalov , Shimul Chowdhury , Seema Rego , James Perry , Mark Speziale , Mark Nespeca , Meredith S Wright , Martin G Reese , Francisco M De La Vega , Joe Azure , Erwin Frise , Charlene Son Rigby , Sandy White , Charlotte A Hobbs , Sheldon Gilmer , Gail Knight , Albert Oriol , Jerica Lenberg , Shareef A Nahas , Kate Perofsky , Kyu Kim , Jeanne Carroll , Nicole G Coufal , Erica Sanford , Kristen Wigby , Jacqueline Weir , Vicki S Thomson , Louise Fraser , Seka S Lazare , Yoon H Shin , Haiying Grunenwald , Richard Lee , David Jones , Duke Tran , Andrew Gross , Patrick Daigle , Anne Case , Marisa Lue , James A Richardson , John Reynders , Thomas Defay , Kevin P Hall , Narayanan Veeraraghavan , Stephen F Kingsmore

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.

JAMA

Avec: Jill L Maron , Stephen Kingsmore , Bruce D Gelb , Jerry Vockley , Kristen Wigby , Jennifer Bragg , Annemarie Stroustrup , Brenda Poindexter , Kristen Suhrie , Jae H Kim , Thomas Diacovo , Cynthia M Powell , Andrea Trembath , Lucia Guidugli , Katarzyna A Ellsworth , Dallas Reed , Anne Kurfiss , Janis L Breeze , Ludovic Trinquart , Jonathan M Davis

Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.

American journal of medical genetics. Part A

Avec: M Makenzie Beaman , Lucia Guidugli , Monia Hammer , Chelsea Barrows , Anne Gregor , Sangmoon Lee , Kristen L Deak , Marie T McDonald , Courtney Jensen , Maha S Zaki , Amira T Masri , Charlotte A Hobbs , Joseph G Gleeson , Jennifer L Cohen

Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Kiely N James , Shimul Chowdhury , Yan Ding , Sergey Batalov , Kelly Watkins , Yong Hyun Kwon , Lucitia Van Der Kraan , Katarzyna Ellsworth , Stephen F Kingsmore , Lucia Guidugli

Réseau de co-auteurs

Stephen F Kingsmore 5 collaborations

Kristen Wigby 4 collaborations

Sergey Batalov 3 collaborations

Yan Ding 3 collaborations

Katarzyna Ellsworth 3 collaborations

Erwin Frise 3 collaborations

Charlotte A Hobbs 3 collaborations

Martin G Reese 3 collaborations

Narayanan Veeraraghavan 3 collaborations

Shimul Chowdhury 3 collaborations

Kiely N James 2 collaborations

Nicole G Coufal 2 collaborations

Laurie D Smith 2 collaborations

Chris M Kunard 2 collaborations

David P Dimmock 2 collaborations

Annette Feigenbaum 2 collaborations

Kevin P Hall 2 collaborations

Christian Hansen 2 collaborations

Yong H Kwon 2 collaborations

Sebastien Lefebvre 2 collaborations

Rebecca Mardach 2 collaborations

Mallory J Owen 2 collaborations

Gunter Scharer 2 collaborations

Shyamal S Mehtalia 2 collaborations

Albert Oriol 2 collaborations

James Perry 2 collaborations

Erica Sanford 2 collaborations

Duke Tran 2 collaborations

Mary J Willis 2 collaborations

Thomas Defay 2 collaborations

Daniela Del Gaudio 2 collaborations

Soma Das 2 collaborations

Francisco M De La Vega 2 collaborations

Kelly Watkins 2 collaborations

Meredith S Wright 2 collaborations

Douglas Jones 1 collaboration

Jacob Hartung 1 collaboration

Elizabeth Lasalle 1 collaboration

Alejandro Borquez 1 collaboration

Viridiana Murillo 1 collaboration

Matthew Bainbridge 1 collaboration

Wendy Benson 1 collaboration

Eric Blincow 1 collaboration

Sara Caylor 1 collaboration

Christina Chambers 1 collaboration

Guillermo Del Angel 1 collaboration

Robert C Green 1 collaboration

Scott D Kahn 1 collaboration

Mark Kiel 1 collaboration

Lucita Van Der Kraan 1 collaboration

Chad Krilow 1 collaboration

Lakshminarasimha Madhavrao 1 collaboration

Jennie Le 1 collaboration

William R Mowrey 1 collaboration

Danny Oh 1 collaboration

George Powley 1 collaboration

Seth Shelnutt 1 collaboration

Mari Tokita 1 collaboration

Stavros Papadopoulos 1 collaboration

Edwin Rosales 1 collaboration

Steve Schwartz 1 collaboration

Meredith Wright 1 collaboration

Aaron R Wolen 1 collaboration

Miao Sun 1 collaboration

Amy Knight Johnson 1 collaboration

Viswateja Nelakuditi 1 collaboration

David Fischer 1 collaboration

Kelly Arndt 1 collaboration

Lan Ma 1 collaboration

Erin Sandford 1 collaboration

Vikram Shakkottai 1 collaboration

Kym Boycott 1 collaboration

Jodi Warman-Chardon 1 collaboration

Zejuan Li 1 collaboration

Margit Burmeister 1 collaboration

Christopher M Gomez 1 collaboration

Darrel J Waggoner 1 collaboration

Barry Moore 1 collaboration

Jeanette McCarthy 1 collaboration

Edgar Javier Hernandez 1 collaboration

Terence Wong 1 collaboration

Kiely James 1 collaboration

Pankaj B Agrawal 1 collaboration

Casie A Genetti 1 collaboration

Catherine A Brownstein 1 collaboration

Alan H Beggs 1 collaboration

Britt-Sabina Löscher 1 collaboration

Andre Franke 1 collaboration

Braden Boone 1 collaboration

Shawn E Levy 1 collaboration

Katrin Õunap 1 collaboration

Sander Pajusalu 1 collaboration

Matt Huentelman 1 collaboration

Keri Ramsey 1 collaboration

Marcus Naymik 1 collaboration

Vinodh Narayanan 1 collaboration

Paul Billings 1 collaboration

Mark Yandell 1 collaboration

Wenbo Mu 1 collaboration

Bing Li 1 collaboration

Sitao Wu 1 collaboration

Jefferey Chen 1 collaboration

Divya Sain 1 collaboration

Dong Xu 1 collaboration

Mary Helen Black 1 collaboration

Rachid Karam 1 collaboration

Katrina Gillespie 1 collaboration

Kelly D Farwell Hagman 1 collaboration

Melissa Pronold 1 collaboration

Aaron Elliott 1 collaboration

Hsiao-Mei Lu 1 collaboration

Paul R Mark 1 collaboration

Stephen A Murray 1 collaboration

Tao Yang 1 collaboration

Alexandra Eby 1 collaboration

Angela Lai 1 collaboration

Di Lu 1 collaboration

Jacob Zieba 1 collaboration

Surender Rajasekaran 1 collaboration

Elizabeth A VanSickle 1 collaboration

Linda Z Rossetti 1 collaboration

Caleb P Bupp 1 collaboration

Jeremy W Prokop 1 collaboration

Heidi L Rehm 1 collaboration

Joseph T Alaimo 1 collaboration

Swaroop Aradhya 1 collaboration

Pinar Bayrak-Toydemir 1 collaboration

Hunter Best 1 collaboration

Rhonda Brandon 1 collaboration

Jillian G Buchan 1 collaboration

Elizabeth C Chao 1 collaboration

Elaine Chen 1 collaboration

Jacob Clifford 1 collaboration

Ana S A Cohen 1 collaboration

Laura K Conlin 1 collaboration

Kyle W Davis 1 collaboration

Florencia Del Viso 1 collaboration

Christina DiVincenzo 1 collaboration

Marcia Eisenberg 1 collaboration

Monia B Hammer 1 collaboration

Steven M Harrison 1 collaboration

Kathryn E Hatchell 1 collaboration

Lindsay Havens Dyer 1 collaboration

Lily U Hoang 1 collaboration

James M Holt 1 collaboration

Vaidehi Jobanputra 1 collaboration

Izabela D Karbassi 1 collaboration

Hutton M Kearney 1 collaboration

Melissa A Kelly 1 collaboration

Jacob M Kelly 1 collaboration

Michelle L Kluge 1 collaboration

Timothy Komala 1 collaboration

Paul Kruszka 1 collaboration

Lynette Lau 1 collaboration

Matthew S Lebo 1 collaboration

Christian R Marshall 1 collaboration

Dianalee McKnight 1 collaboration

Kirsty McWalter 1 collaboration

Yan Meng 1 collaboration

Narasimhan Nagan 1 collaboration

Christian S Neckelmann 1 collaboration

Nir Neerman 1 collaboration

Zhiyv Niu 1 collaboration

Vitoria K Paolillo 1 collaboration

Sarah A Paolucci 1 collaboration

Denise Perry 1 collaboration

Tina Pesaran 1 collaboration

Kelly Radtke 1 collaboration

Kristen J Rasmussen 1 collaboration

Kyle Retterer 1 collaboration

Carol J Saunders 1 collaboration

Elizabeth Spiteri 1 collaboration

Christine Stanley 1 collaboration

Anna Szuto 1 collaboration

Ryan J Taft 1 collaboration

Isabelle Thiffault 1 collaboration

Brittany C Thomas 1 collaboration

Amanda Thomas-Wilson 1 collaboration

Erin Thorpe 1 collaboration

Timothy J Tidwell 1 collaboration

Meghan C Towne 1 collaboration

Hana Zouk 1 collaboration

None None 1 collaboration

Aliya L Frederick 1 collaboration

Jennifer H Yang 1 collaboration

Sarah Schneider 1 collaboration

Alexis Quade 1 collaboration

Melissa Cameron 1 collaboration

Anna-Kaisa Niemi 1 collaboration

Luca Van Der Kraan 1 collaboration

Bryan R Lajoie 1 collaboration

Timothy K McPhail 1 collaboration

Kevin K Chau 1 collaboration

Zhanyang Zhu 1 collaboration

Seema Rego 1 collaboration

Mark Speziale 1 collaboration

Mark Nespeca 1 collaboration

Joe Azure 1 collaboration

Charlene Son Rigby 1 collaboration

Sandy White 1 collaboration

Sheldon Gilmer 1 collaboration

Gail Knight 1 collaboration

Jerica Lenberg 1 collaboration

Shareef A Nahas 1 collaboration

Kate Perofsky 1 collaboration

Kyu Kim 1 collaboration

Jeanne Carroll 1 collaboration

Jacqueline Weir 1 collaboration

Vicki S Thomson 1 collaboration

Louise Fraser 1 collaboration

Seka S Lazare 1 collaboration

Yoon H Shin 1 collaboration

Haiying Grunenwald 1 collaboration

Richard Lee 1 collaboration

David Jones 1 collaboration

Andrew Gross 1 collaboration

Patrick Daigle 1 collaboration

Anne Case 1 collaboration

Marisa Lue 1 collaboration

James A Richardson 1 collaboration

John Reynders 1 collaboration

Jill L Maron 1 collaboration

Stephen Kingsmore 1 collaboration

Bruce D Gelb 1 collaboration

Jerry Vockley 1 collaboration

Jennifer Bragg 1 collaboration

Annemarie Stroustrup 1 collaboration

Brenda Poindexter 1 collaboration

Kristen Suhrie 1 collaboration

Jae H Kim 1 collaboration

Thomas Diacovo 1 collaboration

Cynthia M Powell 1 collaboration

Andrea Trembath 1 collaboration

Katarzyna A Ellsworth 1 collaboration

Dallas Reed 1 collaboration

Anne Kurfiss 1 collaboration

Janis L Breeze 1 collaboration

Ludovic Trinquart 1 collaboration

Jonathan M Davis 1 collaboration

M Makenzie Beaman 1 collaboration

Monia Hammer 1 collaboration

Chelsea Barrows 1 collaboration

Anne Gregor 1 collaboration

Sangmoon Lee 1 collaboration

Kristen L Deak 1 collaboration

Marie T McDonald 1 collaboration

Courtney Jensen 1 collaboration

Maha S Zaki 1 collaboration

Amira T Masri 1 collaboration

Joseph G Gleeson 1 collaboration

Jennifer L Cohen 1 collaboration

Yong Hyun Kwon 1 collaboration

Lucitia Van Der Kraan 1 collaboration