Karen W Gripp

Affiliations
  • Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA.

Publications (48)

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Christine Shieh , Natasha Jones , Brigitte Vanle , Margaret Au , Alden Y Huang , Ana P G Silva , Hane Lee , Emilie D Douine , Maria G Otero , Andrew Choi , Katheryn Grand , Ingrid P Taff , Mauricio R Delgado , M J Hajianpour , Andrea Seeley , Luis Rohena , Hilary Vernon , Karen W Gripp , Samantha A Vergano , Sonal Mahida , Sakkubai Naidu , Ana Berta Sousa , Karen E Wain , Thomas D Challman , Geoffrey Beek , Donald Basel , Judith Ranells , Rosemarie Smith , Roman Yusupov , Mary-Louise Freckmann , Lisa Ohden , Laura Davis-Keppen , David Chitayat , James J Dowling , Richard Finkel , Andrew Dauber , Rebecca Spillmann , Loren D M Pena , Auteur inconnu , Kay Metcalfe , Miranda Splitt , Katherine Lachlan , Shane A McKee , Jane Hurst , David R Fitzpatrick , Jenny E V Morton , Helen Cox , Sunita Venkateswaran , Juan I Young , Eric D Marsh , Stanley F Nelson , Julian A Martinez , John M Graham , Usha Kini , Joel P Mackay , Tyler Mark Pierson

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ghayda M Mirzaa , Jessica X Chong , Amélie Piton , Bernt Popp , Kimberly Foss , Hui Guo , Ricardo Harripaul , Kun Xia , Joshua Scheck , Kimberly A Aldinger , Samin A Sajan , Sha Tang , Dominique Bonneau , Anita Beck , Janson White , Sonal Mahida , Jacqueline Harris , Constance Smith-Hicks , Juliane Hoyer , Christiane Zweier , André Reis , Christian T Thiel , Rami Abou Jamra , Natasha Zeid , Amy Yang , Laura S Farach , Laurence Walsh , Katelyn Payne , Luis Rohena , Milen Velinov , Alban Ziegler , Elise Schaefer , Vincent Gatinois , David Geneviève , Marleen E H Simon , Jennefer Kohler , Joshua Rotenberg , Patricia Wheeler , Austin Larson , Michelle E Ernst , Cigdem I Akman , Rachel Westman , Patricia Blanchet , Lori-Anne Schillaci , Catherine Vincent-Delorme , Karen W Gripp , Francesca Mattioli , Gwenaël Le Guyader , Bénédicte Gerard , Michèle Mathieu-Dramard , Gilles Morin , Roksana Sasanfar , Muhammad Ayub , Nasim Vasli , Sandra Yang , Rick Person , Kristin G Monaghan , Deborah A Nickerson , Ellen van Binsbergen , Gregory M Enns , Annika M Dries , Leah J Rowe , Anne C H Tsai , Shayna Svihovec , Jennifer Friedman , Zehra Agha , Raheel Qamar , Lance H Rodan , Julian Martinez-Agosto , Charlotte W Ockeloen , Marie Vincent , William James Sunderland , Jonathan A Bernstein , Auteur inconnu , Evan E Eichler , John B Vincent , Auteur inconnu , Michael J Bamshad

Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates.

Cell reports
Avec: Melissa J MacPherson , Sarah L Erickson , Drayden Kopp , Pengqiang Wen , Mohamad-Reza Aghanoori , Shreeya Kedia , Kaylan M L Burns , Antonio Vitobello , Frederic Tran Mau-Them , Quentin Thomas , Nina B Gold , William Brucker , Louise Amlie-Wolf , Karen W Gripp , Olaf Bodamer , Laurence Faivre , Mikko Muona , Lara Menzies , Julia Baptista , Katie Guegan , Alison Male , Xing-Chang Wei , Guiqiong He , Quan Long , A Micheil Innes , Guang Yang

Craniosynostosis is a feature of Costello syndrome.

American journal of medical genetics. Part A
Avec: K Nicole Weaver , Marguerite Care , Emily Wakefield , Yuri A Zarate , Jesse Skoch , Karen W Gripp , Carlos E Prada

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

American journal of human genetics
Avec: Leslie G Biesecker , Margaret P Adam , Fowzan S Alkuraya , Anne R Amemiya , Michael J Bamshad , Anita E Beck , James T Bennett , Lynne M Bird , John C Carey , Brian Chung , Robin D Clark , Timothy C Cox , Cynthia Curry , Mary Beth Palko Dinulos , William B Dobyns , Philip F Giampietro , Katta M Girisha , Ian A Glass , John M Graham , Karen W Gripp , Chad R Haldeman-Englert , Bryan D Hall , A Micheil Innes , Jennifer M Kalish , Kim M Keppler-Noreuil , Kenjiro Kosaki , Beth A Kozel , Ghayda M Mirzaa , John J Mulvihill , Malgorzata J M Nowaczyk , Roberta A Pagon , Kyle Retterer , Alan F Rope , Pedro A Sanchez-Lara , Laurie H Seaver , Joseph T Shieh , Anne M Slavotinek , Andrew K Sobering , Cathy A Stevens , David A Stevenson , Tiong Yang Tan , Wen-Hann Tan , Anne C Tsai , David D Weaver , Marc S Williams , Elaine Zackai , Yuri A Zarate

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

Human mutation
Avec: Geeske M van Woerden , Melanie Bos , Charlotte de Konink , Ben Distel , Rossella Avagliano Trezza , Natasha E Shur , Kristin Barañano , Sonal Mahida , Anna Chassevent , Allison Schreiber , Angelika L Erwin , Karen W Gripp , Fatima Rehman , Saskia Brulleman , Róisín McCormack , Gwynna de Geus , Louisa Kalsner , Arthur Sorlin , Ange-Line Bruel , David A Koolen , Melissa K Gabriel , Mari Rossi , David R Fitzpatrick , Andrew O M Wilkie , Eduardo Calpena , David Johnson , Alice Brooks , Marjon van Slegtenhorst , Julie Fleischer , Daniel Groepper , Kristin Lindstrom , A Micheil Innes , Allison Goodwin , Jennifer Humberson , Amanda Noyes , Katherine G Langley , Aida Telegrafi , Amy Blevins , Jessica Hoffman , Maria J Guillen Sacoto , Jane Juusola , Kristin G Monaghan , Sumit Punj , Marleen Simon , Rolph Pfundt , Ype Elgersma , Tjitske Kleefstra

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.

American journal of medical genetics. Part A
Avec: Kevin E Glinton , Anna C E Hurst , Kevin M Bowling , Ingrid Cristian , Devon Haynes , Dusit Adstamongkonkul , Oskar Schnappauf , David B Beck , Carole Brewer , Aditi Shah Parikh , Deepali N Shinde , Alan Donaldson , Ariel Brautbar , Saskia Koene , Arie van Haeringen , Amélie Piton , Yline Capri , Margherita Furlan , Elena Gardella , Rikke Steensbjerre Møller , Irma van de Beek , Linda Zuurbier , Phillis Lakeman , Allan Bayat , Julian Martinez , Rebecca Signer , Pernille M Torring , Morten Buch Engelund , Karen W Gripp , Louise Amlie-Wolf , Lindsay B Henderson , Alina T Midro , Eugeniusz Tarasów , Beata Stasiewicz-Jarocka , Diana Moskal-Jasinska , Paul Vos , Felix Boschann , Corinna Stoltenburg , Oliver Puk , Inger-Lise Mero , Kristine Lossius , Cyril Mignot , Boris Keren , Johanna C Acosta Guio , Ignacio Briceño , Alberto Gomez , Yaping Yang , Pawel Stankiewicz

The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.

American journal of medical genetics. Part A
Avec: Maria I Kontaridis , Amy E Roberts , Lisa Schill , Lisa Schoyer , Beth Stronach , Gregor Andelfinger , Yoko Aoki , Marni E Axelrad , Annette Bakker , Anton M Bennett , Alberto Broniscer , Pau Castel , Caitlin A Chang , Lukas Cyganek , Tirtha K Das , Jeroen den Hertog , Emilia Galperin , Shruti Garg , Bruce D Gelb , Kristiana Gordon , Tamar Green , Karen W Gripp , Maxim Itkin , Maija Kiuru , Bruce R Korf , Jeff R Livingstone , Alejandro López-Juárez , Pilar L Magoulas , Sahar Mansour , Theresa Milner , Elisabeth Parker , Elizabeth I Pierpont , Kevin Plouffe , Katherine A Rauen , Suma P Shankar , Shane B Smith , David A Stevenson , Marco Tartaglia , Richard Van , Morgan E Wagner , Stephanie M Ware , Martin Zenker

GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.

medRxiv : the preprint server for health sciences
Avec: Hellen Lesmann , Alexander Hustinx , Shahida Moosa , Elaine Marchi , Pilar Caro , Ibrahim M Abdelrazek , Jean Tori Pantel , Hannah Klinkhammer , Merle Ten Hagen , Tom Kamphans , Wolfgang Meiswinkel , Jing-Mei Li , Behnam Javanmardi , Alexej Knaus , Annette Uwineza , Cordula Knopp , Tinatin Tkemaladze , Miriam Elbracht , Larissa Mattern , Rami Abou Jamra , Clara Velmans , Vincent Strehlow , Himanshu Goel , Beatriz Carvalho Nunes , Thainá Vilella , Isabel Furquim Pinheiro , Chong Ae Kim , Maria Isabel Melaragno , Tahsin Stefan Barakat , Amira Nabil , Julia Suh , Luisa Averdunk , Ekanem Ekure , Claudio Graziano , Prasit Phowthongkum , Nergis Güzel , Tobias B Haack , Theresa Brunet , Sabine Rudnik-Schöneborn , Konrad Platzer , Artem Borovikov , Franziska Schnabel , Lara Heuft , Vera Herrmann , Antonio F Martinez-Monseny , Matthias Höller , Khoshoua Alaaeldin , Aleksandra Jezela-Stanek , Amal Mohamed , Amaia Lasa-Aranzasti , John A Sayer , Ping Hu , Suzanna E Ledgister Hanchard , Gehad Elmakkawy , Sylvia Safwat , Frédéric Ebstein , Elke Krüger , Sébastien Küry , Annabelle Arlt , Felix Marbach , Christian Netzer , Sophia Kaptain , Hannah Weiland , Dong Li , Lucie Dupuis , Roberto Mendoza-Londono , Sofia Douzgou Houge , Denisa Weis , Brian Hon-Yin Chung , Christopher C Y Mak , Koen Devriendt , Karen W Gripp , Martin Mücke , Alain Verloes , Christian P Schaaf , Christoffer Nellåker , Benjamin D Solomon , Rebekah L Waikel , Markus M Nöthen , Ebtesam Abdalla , Gholson J Lyon , Peter M Krawitz , Tzung-Chien Hsieh

PEDIA: prioritization of exome data by image analysis.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Tzung-Chien Hsieh , Martin A Mensah , Jean T Pantel , Dione Aguilar , Omri Bar , Allan Bayat , Luis Becerra-Solano , Heidi B Bentzen , Saskia Biskup , Oleg Borisov , Oivind Braaten , Claudia Ciaccio , Marie Coutelier , Kirsten Cremer , Magdalena Danyel , Svenja Daschkey , Hilda David Eden , Koenraad Devriendt , Sandra Wilson , Sofia Douzgou , Dejan Đukić , Nadja Ehmke , Christine Fauth , Björn Fischer-Zirnsak , Nicole Fleischer , Heinz Gabriel , Luitgard Graul-Neumann , Karen W Gripp , Yaron Gurovich , Asya Gusina , Nechama Haddad , Nurulhuda Hajjir , Yair Hanani , Jakob Hertzberg , Konstanze Hoertnagel , Janelle Howell , Ivan Ivanovski , Angela Kaindl , Tom Kamphans , Susanne Kamphausen , Catherine Karimov , Hadil Kathom , Anna Keryan , Alexej Knaus , Sebastian Köhler , Uwe Kornak , Alexander Lavrov , Maximilian Leitheiser , Gholson J Lyon , Elisabeth Mangold , Purificación Marín Reina , Antonio Martinez Carrascal , Diana Mitter , Laura Morlan Herrador , Guy Nadav , Markus Nöthen , Alfredo Orrico , Claus-Eric Ott , Kristen Park , Borut Peterlin , Laura Pölsler , Annick Raas-Rothschild , Linda Randolph , Nicole Revencu , Christina Ringmann Fagerberg , Peter Nick Robinson , Stanislav Rosnev , Sabine Rudnik , Gorazd Rudolf , Ulrich Schatz , Anna Schossig , Max Schubach , Or Shanoon , Eamonn Sheridan , Pola Smirin-Yosef , Malte Spielmann , Eun-Kyung Suk , Yves Sznajer , Christian T Thiel , Gundula Thiel , Alain Verloes , Irena Vrecar , Dagmar Wahl , Ingrid Weber , Korina Winter , Marzena Wiśniewska , Bernd Wollnik , Ming W Yeung , Max Zhao , Na Zhu , Johannes Zschocke , Stefan Mundlos , Denise Horn , Peter M Krawitz

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Human mutation
Avec: Magdalena Koczkowska , Tom Callens , Yunjia Chen , Alicia Gomes , Alesha D Hicks , Angela Sharp , Eric Johns , Kim Armfield Uhas , Linlea Armstrong , Katherine Armstrong Bosanko , Dusica Babovic-Vuksanovic , Laura Baker , Donald G Basel , Mario Bengala , James T Bennett , Chelsea Chambers , Lola K Clarkson , Maurizio Clementi , Fanny M Cortés , Mitch Cunningham , M Daniela D'Agostino , Martin B Delatycki , Maria C Digilio , Laura Dosa , Silvia Esposito , Stephanie Fox , Mary-Louise Freckmann , Christine Fauth , Teresa Giugliano , Sandra Giustini , Allison Goetsch , Yael Goldberg , Robert S Greenwood , Cristin Griffis , Karen W Gripp , Punita Gupta , Eric Haan , Rachel K Hachen , Tamara L Haygarth , Concepción Hernández-Chico , Katelyn Hodge , Robert J Hopkin , Louanne Hudgins , Sandra Janssens , Kory Keller , Geraldine Kelly-Mancuso , Aaina Kochhar , Bruce R Korf , Andrea M Lewis , Jan Liebelt , Angie Lichty , Robert H Listernick , Michael J Lyons , Isabelle Maystadt , Mayra Martinez Ojeda , Carey McDougall , Lesley K McGregor , Daniela Melis , Nancy Mendelsohn , Malgorzata J M Nowaczyk , June Ortenberg , Karin Panzer , John G Pappas , Mary Ella Pierpont , Giulio Piluso , Valentina Pinna , Eniko K Pivnick , Dinel A Pond , Cynthia M Powell , Caleb Rogers , Noa Ruhrman Shahar , S Lane Rutledge , Veronica Saletti , Sarah A Sandaradura , Claudia Santoro , Ulrich A Schatz , Allison Schreiber , Daryl A Scott , Elizabeth A Sellars , Ruth Sheffer , Elizabeth Siqveland , John M Slopis , Rosemarie Smith , Alberto Spalice , David W Stockton , Haley Streff , Amy Theos , Gail E Tomlinson , Grace Tran , Pamela L Trapane , Eva Trevisson , Nicole J Ullrich , Jenneke Van den Ende , Samantha A Schrier Vergano , Stephanie E Wallace , Michael F Wangler , David D Weaver , Kaleb H Yohay , Elaine Zackai , Jonathan Zonana , Vickie Zurcher , Kathleen B M Claes , Marica Eoli , Yolanda Martin , Katharina Wimmer , Alessandro De Luca , Eric Legius , Ludwine M Messiaen

Costello syndrome: Clinical phenotype, genotype, and management guidelines.

American journal of medical genetics. Part A
Avec: Karen W Gripp , Lindsey A Morse , Marni Axelrad , Kathryn C Chatfield , Aaron Chidekel , William Dobyns , Daniel Doyle , Bronwyn Kerr , Angela E Lin , David D Schwartz , Barbara J Sibbles , Dawn Siegel , Suma P Shankar , David A Stevenson , Mihir M Thacker , K Nicole Weaver , Sue M White , Katherine A Rauen

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.

European journal of human genetics : EJHG
Avec: Max Krall , Stephanie Htun , Rhonda E Schnur , Alice S Brooks , Laura Baker , Alejandra de Alba Campomanes , Ryan E Lamont , Karen W Gripp , Auteur inconnu , Dina Schneidman-Duhovny , A Micheil Innes , Grazia M S Mancini , Anne M Slavotinek

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

Molecular psychiatry
Avec: Suzanna G M Frints , Aysegul Ozanturk , Germán Rodríguez Criado , Ute Grasshoff , Bas de Hoon , Michael Field , Sylvie Manouvrier-Hanu , Scott E Hickey , Molka Kammoun , Karen W Gripp , Claudia Bauer , Christopher Schroeder , Annick Toutain , Theresa Mihalic Mosher , Benjamin J Kelly , Peter White , Andreas Dufke , Eveline Rentmeester , Sungjin Moon , Daniel C Koboldt , Kees E P van Roozendaal , Hao Hu , Stefan A Haas , Hans-Hilger Ropers , Lucinda Murray , Eric Haan , Marie Shaw , Renee Carroll , Kathryn Friend , Jan Liebelt , Lynne Hobson , Marjan De Rademaeker , Joep Geraedts , Jean-Pierre Fryns , Joris Vermeesch , Martine Raynaud , Olaf Riess , Joost Gribnau , Nicholas Katsanis , Koen Devriendt , Peter Bauer , Jozef Gecz , Christelle Golzio , Cristina Gontan , Vera M Kalscheuer

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

American journal of medical genetics. Part A
Avec: Sarah E Sheppard , Ian M Campbell , Margaret H Harr , Nina Gold , Dong Li , Hans T Bjornsson , Julie S Cohen , Jill A Fahrner , Ali Fatemi , Jacqueline R Harris , Catherine Nowak , Cathy A Stevens , Katheryn Grand , Margaret Au , John M Graham , Pedro A Sanchez-Lara , Miguel Del Campo , Marilyn C Jones , Omar Abdul-Rahman , Fowzan S Alkuraya , Jennifer A Bassetti , Katherine Bergstrom , Elizabeth Bhoj , Sarah Dugan , Julie D Kaplan , Nada Derar , Karen W Gripp , Natalie Hauser , A Micheil Innes , Beth Keena , Neslida Kodra , Rebecca Miller , Beverly Nelson , Malgorzata J Nowaczyk , Zuhair Rahbeeni , Shay Ben-Shachar , Joseph T Shieh , Anne Slavotinek , Andrew K Sobering , Mary-Alice Abbott , Dawn C Allain , Louise Amlie-Wolf , Ping Yee Billie Au , Emma Bedoukian , Geoffrey Beek , James Barry , Janet Berg , Jonathan A Bernstein , Cheryl Cytrynbaum , Brian Hon-Yin Chung , Sarah Donoghue , Naghmeh Dorrani , Alison Eaton , Josue A Flores-Daboub , Holly Dubbs , Carolyn A Felix , Chin-To Fong , Jasmine Lee Fong Fung , Balram Gangaram , Amy Goldstein , Rotem Greenberg , Thoa K Ha , Joseph Hersh , Kosuke Izumi , Staci Kallish , Elijah Kravets , Pui-Yan Kwok , Rebekah K Jobling , Amy E Knight Johnson , Jessica Kushner , Bo Hoon Lee , Brooke Levin , Kristin Lindstrom , Kandamurugu Manickam , Rebecca Mardach , Elizabeth McCormick , D Ross McLeod , Frank D Mentch , Kelly Minks , Colleen Muraresku , Stanley F Nelson , Patrizia Porazzi , Pavel N Pichurin , Nina N Powell-Hamilton , Zoe Powis , Alyssa Ritter , Caleb Rogers , Luis Rohena , Carey Ronspies , Audrey Schroeder , Zornitza Stark , Lois Starr , Joan Stoler , Pim Suwannarat , Milen Velinov , Rosanna Weksberg , Yael Wilnai , Neda Zadeh , Dina J Zand , Marni J Falk , Hakon Hakonarson , Elaine H Zackai , Fabiola Quintero-Rivera

Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.

American journal of medical genetics. Part A
Avec: Shuk Ching Chong , Ye Cao , Eva L W Fung , Soledad Kleppe , Karen W Gripp , Jozef Hertecant , Ayman W El-Hattab , Jehan Suleiman , Gary Clark , Gretchen von Allmen , Olga Rodziyevska , Richard A Lewis , Jill A Rosenfeld , Jie Dong , Auteur inconnu , Xia Wang , Marcus J Miller , Weimin Bi , Pengfei Liu , Fernando Scaglia

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

American journal of medical genetics. Part A
Avec: Elizabeth I Pierpont , Anton M Bennett , Lisa Schoyer , Beth Stronach , April Anschutz , Sarah C Borrie , Benjamin Briggs , Emma Burkitt-Wright , Pau Castel , Ion C Cirstea , Fieke Draaisma , Michelle Ellis , Vanessa S Fear , Megan N Frone , Elisabetta Flex , Bruce D Gelb , Tamar Green , Karen W Gripp , Sattar Khoshkhoo , Mark W Kieran , Karolin Kleemann , Bonita P Klein-Tasman , Maria I Kontaridis , Paul Kruszka , Chiara Leoni , Clifford Z Liu , Nadia Merchant , Pilar L Magoulas , Christopher Moertel , Carlos E Prada , Katherine A Rauen , Renée Roelofs , Rodrigue Rossignol , Christine Sevilla , Gigi Sevilla , Ryan Sheedy , Elliot Stieglitz , Daochun Sun , Dagmar Tiemens , Forest White , Ellen Wingbermühle , Cordula Wolf , Martin Zenker , Gregor Andelfinger

Epilepsy as a Novel Phenotype of BPTF-Related Disorders.

Pediatric neurology
Avec: Alessandro Ferretti , Margherita Furlan , Kevin E Glinton , Christina D Fenger , Felix Boschann , Louise Amlie-Wolf , Shimriet Zeidler , Raffaella Moretti , Corinna Stoltenburg , Daniel C Tarquinio , Francesca Furia , Pasquale Parisi , Guido Rubboli , Orrin Devinsky , Cyril Mignot , Karen W Gripp , Rikke S Møller , Yaping Yang , Pawel Stankiewicz , Elena Gardella

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.

Nature communications
Avec: Yu-Ri Lee , Kamal Khan , Kim Armfield-Uhas , Sujata Srikanth , Nicola A Thompson , Mercedes Pardo , Lu Yu , Joy W Norris , Yunhui Peng , Karen W Gripp , Kirk A Aleck , Chumei Li , Ed Spence , Tae-Ik Choi , Soo Jeong Kwon , Hee-Moon Park , Daseuli Yu , Won Do Heo , Marie R Mooney , Shahid M Baig , Ingrid M Wentzensen , Aida Telegrafi , Kirsty McWalter , Trevor Moreland , Chelsea Roadhouse , Keri Ramsey , Michael J Lyons , Cindy Skinner , Emil Alexov , Nicholas Katsanis , Roger E Stevenson , Jyoti S Choudhary , David J Adams , Cheol-Hee Kim , Erica E Davis , Charles E Schwartz

Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.

American journal of medical genetics. Part A
Avec: Andrea M Gross , Megan Frone , Karen W Gripp , Bruce D Gelb , Lisa Schoyer , Lisa Schill , Beth Stronach , Leslie G Biesecker , Dominic Esposito , Edjay Ralph Hernandez , Eric Legius , Mignon L Loh , Staci Martin , Deborah K Morrison , Katherine A Rauen , Pamela L Wolters , Dina Zand , Frank McCormick , Sharon A Savage , Douglas R Stewart , Brigitte C Widemann , Marielle E Yohe

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca

American journal of human genetics
Avec: Christiane K Bauer , Pauline E Schneeberger , Fanny Kortüm , Janine Altmüller , Fernando Santos-Simarro , Laura Baker , Jennifer Keller-Ramey , Susan M White , Philippe M Campeau , Karen W Gripp , Kerstin Kutsche

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.

Clinical epigenetics
Avec: Eric G Bend , Erfan Aref-Eshghi , David B Everman , R Curtis Rogers , Sara S Cathey , Eloise J Prijoles , Michael J Lyons , Heather Davis , Katie Clarkson , Karen W Gripp , Dong Li , Elizabeth Bhoj , Elaine Zackai , Paul Mark , Hakon Hakonarson , Laurie A Demmer , Michael A Levy , Jennifer Kerkhof , Alan Stuart , David Rodenhiser , Michael J Friez , Roger E Stevenson , Charles E Schwartz , Bekim Sadikovic

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

American journal of human genetics
Avec: Amy J LaCroix , Deborah Stabley , Rebecca Sahraoui , Margaret P Adam , Michele Mehaffey , Kelly Kernan , Candace T Myers , Carrie Fagerstrom , George Anadiotis , Yassmine M Akkari , Katherine M Robbins , Karen W Gripp , Wagner A R Baratela , Michael B Bober , Angela L Duker , Dan Doherty , Jennifer C Dempsey , Daniel G Miller , Martin Kircher , Michael J Bamshad , Deborah A Nickerson , Auteur inconnu , Heather C Mefford , Katia Sol-Church

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Holly K Harris , Tojo Nakayama , Jenny Lai , Boxun Zhao , Nikoleta Argyrou , Cynthia S Gubbels , Aubrie Soucy , Casie A Genetti , Victoria Suslovitch , Lance H Rodan , George E Tiller , Gaetan Lesca , Karen W Gripp , Reza Asadollahi , Ada Hamosh , Carolyn D Applegate , Peter D Turnpenny , Marleen E H Simon , Catharina M L Volker-Touw , Koen L I van Gassen , Ellen van Binsbergen , Rolph Pfundt , Thatjana Gardeitchik , Bert B A de Vries , LaDonna L Immken , Catherine Buchanan , Marcia Willing , Tomi L Toler , Emily Fassi , Laura Baker , Fleur Vansenne , Xiadong Wang , Julian L Ambrus , Madeleine Fannemel , Jennifer E Posey , Emanuele Agolini , Antonio Novelli , Anita Rauch , Paranchai Boonsawat , Christina R Fagerberg , Martin J Larsen , Maria Kibaek , Audrey Labalme , Alice Poisson , Katelyn K Payne , Laurence E Walsh , Kimberly A Aldinger , Jorune Balciuniene , Cara Skraban , Christopher Gray , Jill Murrell , Caleb P Bupp , Giulia Pascolini , Paola Grammatico , Martin Broly , Sébastien Küry , Mathilde Nizon , Iqra Ghulam Rasool , Muhammad Yasir Zahoor , Cornelia Kraus , André Reis , Muhammad Iqbal , Kevin Uguen , Severine Audebert-Bellanger , Claude Ferec , Sylvia Redon , Janice Baker , Yunhong Wu , Guiseppe Zampino , Steffan Syrbe , Ines Brosse , Rami Abou Jamra , William B Dobyns , Lilian L Cohen , Anne Blomhoff , Cyril Mignot , Boris Keren , Thomas Courtin , Pankaj B Agrawal , Alan H Beggs , Timothy W Yu

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K

European journal of human genetics : EJHG
Avec: Karen W Gripp , Sarah F Smithson , Ingrid J Scurr , Julia Baptista , Anirban Majumdar , Germaine Pierre , Maggie Williams , Lindsay B Henderson , Ingrid M Wentzensen , Heather McLaughlin , Lisette Leeuwen , Marleen E H Simon , Ellen van Binsbergen , Mary Beth P Dinulos , Julie D Kaplan , Anne McRae , Andrea Superti-Furga , Jean-Marc Good , Kerstin Kutsche

41st Annual David W. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meeting.

American journal of medical genetics. Part A
Avec: Karen W Gripp , Kenneth Lyons Jones , Tara L Wenger , Auteur inconnu , Margaret P Adam

Novel genetic testing model: A collaboration between genetic counselors and nephrology.

American journal of medical genetics. Part A
Avec: Louise Amlie-Wolf , Laura Baker , Olivia Hiddemen , Morgan Thomas , Christine Burke , Caroline Gluck , Joshua J Zaritsky , Karen W Gripp

Identifying facial phenotypes of genetic disorders using deep learning.

Nature medicine
Avec: Yaron Gurovich , Yair Hanani , Omri Bar , Guy Nadav , Nicole Fleischer , Dekel Gelbman , Lina Basel-Salmon , Peter M Krawitz , Susanne B Kamphausen , Martin Zenker , Lynne M Bird , Karen W Gripp

The sixth international RASopathies symposium: Precision medicine-From promise to practice.

American journal of medical genetics. Part A
Avec: Karen W Gripp , Lisa Schill , Lisa Schoyer , Beth Stronach , Anton M Bennett , Susan Blaser , Amanda Brown , Rebecca Burdine , Emma Burkitt-Wright , Pau Castel , Sandra Darilek , Alwyn Dias , Tuesdi Dyer , Michelle Ellis , Gregg Erickson , Bruce D Gelb , Tamar Green , Andrea Gross , Alan Ho , James Lloyd Holder , Shin-Ichi Inoue , Angie C Jelin , Annie Kennedy , Richard Klein , Maria I Kontaridis , Pilar Magoulas , Darryl B McConnell , Frank McCormick , Benjamin G Neel , Carlos E Prada , Katherine A Rauen , Amy Roberts , Pablo Rodriguez-Viciana , Neal Rosen , Gavin Rumbaugh , Anna Sablina , Maja Solman , Marco Tartaglia , Angelica Thomas , William C Timmer , Kartik Venkatachalam , Karin S Walsh , Pamela L Wolters , Jae-Sung Yi , Martin Zenker , Nancy Ratner

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Christine Shieh , Natasha Jones , Brigitte Vanle , Margaret Au , Alden Y Huang , Ana P G Silva , Hane Lee , Emilie D Douine , Maria G Otero , Andrew Choi , Katheryn Grand , Ingrid P Taff , Mauricio R Delgado , M J Hajianpour , Andrea Seeley , Luis Rohena , Hilary Vernon , Karen W Gripp , Samantha A Vergano , Sonal Mahida , Sakkubai Naidu , Ana Berta Sousa , Karen E Wain , Thomas D Challman , Geoffrey Beek , Donald Basel , Judith Ranells , Rosemarie Smith , Roman Yusupov , Mary-Louise Freckmann , Lisa Ohden , Laura Davis-Keppen , David Chitayat , James J Dowling , Richard Finkel , Andrew Dauber , Rebecca Spillmann , Loren D M Pena , Auteur inconnu , Kay Metcalfe , Miranda Splitt , Katherine Lachlan , Shane A McKee , Jane Hurst , David R Fitzpatrick , Jenny E V Morton , Helen Cox , Sunita Venkateswaran , Juan I Young , Eric D Marsh , Stanley F Nelson , Julian A Martinez , John M Graham , Usha Kini , Joel P Mackay , Tyler Mark Pierson

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.

Journal of inherited metabolic disease
Avec: Devon L Johnstone , Thi Tuyet Mai Nguyen , Jessica Zambonin , Kristin D Kernohan , Anik St-Denis , Nissan V Baratang , Taila Hartley , Michael T Geraghty , Julie Richer , Jacek Majewski , Eric Bareke , Andrea Guerin , Manuela Pendziwiat , Loren D M Pena , Hilde M H Braakman , Karen W Gripp , Andrew C Edmondson , Miao He , Rebecca C Spillmann , Erik A Eklund , Allan Bayat , Hugh J McMillan , Kym M Boycott , Philippe M Campeau

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

American journal of medical genetics. Part A
Avec: Ilana Chilton , Volkan Okur , Giuseppina Vitiello , Angelo Selicorni , Milena Mariani , Alice Goldenberg , Thomas Husson , Dominique Campion , Klaske D Lichtenbelt , Koen van Gassen , Michelle Steinraths , Jennifer Rice , Elizabeth R Roeder , Rebecca O Littlejohn , Myriam Srour , Guillaume Sebire , Andrea Accogli , Delphine Héron , Solveig Heide , Caroline Nava , Christel Depienne , Austin Larson , Dmitriy Niyazov , Meron Azage , George Hoganson , Jennifer Burton , Eric T Rush , Janda L Jenkins , Carol J Saunders , Isabelle Thiffault , Joseph T Alaimo , Julie Fleischer , Daniel Groepper , Karen W Gripp , Wendy K Chung

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

American journal of human genetics
Avec: James L Shepherdson , Katie Hutchison , Dilan Wellalage Don , George McGillivray , Tae-Ik Choi , Carolyn A Allan , David J Amor , Siddharth Banka , Donald G Basel , Laura D Buch , Deanna Alexis Carere , Renée Carroll , Jill Clayton-Smith , Ali Crawford , Morten Dunø , Laurence Faivre , Christopher P Gilfillan , Nina B Gold , Karen W Gripp , Emma Hobson , Alexander M Holtz , A Micheil Innes , Bertrand Isidor , Adam Jackson , Panagiotis Katsonis , Leila Amel Riazat Kesh , Auteur inconnu , Sébastien Küry , François Lecoquierre , Paul Lockhart , Julien Maraval , Naomichi Matsumoto , Julie McCarrier , Josephine McCarthy , Noriko Miyake , Lip Hen Moey , Andrea H Németh , Elsebet Østergaard , Rushina Patel , Kate Pope , Jennifer E Posey , Rhonda E Schnur , Marie Shaw , Elliot Stolerman , Julie P Taylor , Erin Wadman , Emma Wakeling , Susan M White , Lawrence C Wong , James R Lupski , Olivier Lichtarge , Mark A Corbett , Jozef Gecz , Charles M Nicolet , Peggy J Farnham , Cheol-Hee Kim , Marwan Shinawi

Central nervous system involvement in individuals with RASopathies.

American journal of medical genetics. Part C, Seminars in medical genetics
Avec: K Nicole Weaver , Karen W Gripp

Medically actionable comorbidities in adults with Costello syndrome.

American journal of medical genetics. Part A
Avec: Amy R Shikany , Laura Baker , Deborah L Stabley , Katherine Robbins , Daniel Doyle , Karen W Gripp , K Nicole Weaver

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.

European journal of human genetics : EJHG
Avec: Karen W Gripp , Laura Baker , Katherine M Robbins , Deborah L Stabley , Gary A Bellus , Verena Kolbe , Theresa Nauth , Georg Rosenberger

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain : a journal of neurology
Avec: Christopher C Y Mak , Dan Doherty , Angela E Lin , Nancy Vegas , Megan T Cho , Géraldine Viot , Clémantine Dimartino , James D Weisfeld-Adams , Davor Lessel , Shelagh Joss , Chumei Li , Claudia Gonzaga-Jauregui , Yuri A Zarate , Nadja Ehmke , Denise Horn , Caitlin Troyer , Sarina G Kant , Youngha Lee , Gisele E Ishak , Gordon Leung , Amanda Barone Pritchard , Sandra Yang , Eric G Bend , Francesca Filippini , Chelsea Roadhouse , Nicolas Lebrun , Michele G Mehaffey , Pierre-Marie Martin , Benjamin Apple , Francisca Millan , Oliver Puk , Mariette J V Hoffer , Lindsay B Henderson , Ruth McGowan , Ingrid M Wentzensen , Steven Pei , Farah R Zahir , Mullin Yu , William T Gibson , Ann Seman , Marcie Steeves , Jill R Murrell , Sabine Luettgen , Elizabeth Francisco , Tim M Strom , Louise Amlie-Wolf , Angela M Kaindl , William G Wilson , Sara Halbach , Lina Basel-Salmon , Noa Lev-El , Jonas Denecke , Lisenka E L M Vissers , Kelly Radtke , Jamel Chelly , Elaine Zackai , Jan M Friedman , Michael J Bamshad , Deborah A Nickerson , Auteur inconnu , Russell R Reid , Koenraad Devriendt , Jong-Hee Chae , Elliot Stolerman , Carey McDougall , Zöe Powis , Thierry Bienvenu , Tiong Y Tan , Naama Orenstein , William B Dobyns , Joseph T Shieh , Murim Choi , Darrel Waggoner , Karen W Gripp , Michael J Parker , Joan Stoler , Stanislas Lyonnet , Valérie Cormier-Daire , David Viskochil , Trevor L Hoffman , Jeanne Amiel , Brian H Y Chung , Christopher T Gordon

Inherited intragenic PBX1 deletion: Expanding the phenotype.

American journal of medical genetics. Part A
Avec: Kristi K Fitzgerald , Nina Powell-Hamilton , Amanda J Shillingford , Bradley Robinson , Karen W Gripp

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.

Nature genetics
Avec: Tzung-Chien Hsieh , Aviram Bar-Haim , Shahida Moosa , Nadja Ehmke , Karen W Gripp , Jean Tori Pantel , Magdalena Danyel , Martin Atta Mensah , Denise Horn , Stanislav Rosnev , Nicole Fleischer , Guilherme Bonini , Alexander Hustinx , Alexander Schmid , Alexej Knaus , Behnam Javanmardi , Hannah Klinkhammer , Hellen Lesmann , Sugirthan Sivalingam , Tom Kamphans , Wolfgang Meiswinkel , Frédéric Ebstein , Elke Krüger , Sébastien Küry , Stéphane Bézieau , Axel Schmidt , Sophia Peters , Hartmut Engels , Elisabeth Mangold , Martina Kreiß , Kirsten Cremer , Claudia Perne , Regina C Betz , Tim Bender , Kathrin Grundmann-Hauser , Tobias B Haack , Matias Wagner , Theresa Brunet , Heidi Beate Bentzen , Luisa Averdunk , Kimberly Christine Coetzer , Gholson J Lyon , Malte Spielmann , Christian P Schaaf , Stefan Mundlos , Markus M Nöthen , Peter M Krawitz

Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic.

Delaware journal of public health
Avec: Susan M Kirwin , Katherine M Robbins , Kathleen M B Vinette , Lee Hirata , Karen W Gripp , Vicky L Funanage

The Genetic Testing Stewardship Program:: A Bridge to Precision Diagnostics for the Non-genetics Medical Provider.

Delaware journal of public health
Avec: Morgan Thomas , Auteur inconnu , Louise Amlie-Wolf , Laura Baker , Auteur inconnu , Karen W Gripp , Auteur inconnu

Circulation. Arrhythmia and electrophysiology
Avec: Nelson A Rodríguez , Nihir Patel , Rafael Dariolli , Simon Ng , Angelika G Aleman , Jingqi Q X Gong , Hung-Mo Lin , Matthew Rodríguez , Rebecca Josowitz , Katia Sol-Church , Karen W Gripp , Xianming Lin , Soomin C Song , Glenn I Fishman , Eric A Sobie , Bruce D Gelb

Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review.

American journal of medical genetics. Part A
Avec: Dhrumil Deveshkumar Patel , Karen W Gripp , Erin Wadman , Ishita Mishra , Vinay Kandula

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sayaka Kayumi , Luis A Pérez-Jurado , María Palomares , Sneha Rangu , Sarah E Sheppard , Wendy K Chung , Michael C Kruer , Mira Kharbanda , David J Amor , George McGillivray , Julie S Cohen , Sixto García-Miñaúr , Clare L van Eyk , Kelly Harper , Lachlan A Jolly , Dani L Webber , Christopher P Barnett , Fernando Santos-Simarro , Marta Pacio-Míguez , Angela Del Pozo , Somayeh Bakhtiari , Matthew Deardorff , Holly A Dubbs , Kosuke Izumi , Katheryn Grand , Christopher Gray , Paul R Mark , Elizabeth J Bhoj , Dong Li , Xilma R Ortiz-Gonzalez , Beth Keena , Elaine H Zackai , Ethan M Goldberg , Guiomar Perez de Nanclares , Arrate Pereda , Isabel Llano-Rivas , Ignacio Arroyo , María Ángeles Fernández-Cuesta , Christel Thauvin-Robinet , Laurence Faivre , Aurore Garde , Benoit Mazel , Ange-Line Bruel , Michael L Tress , Eva Brilstra , Amena Smith Fine , Kylie E Crompton , Alexander P A Stegmann , Margje Sinnema , Servi C J Stevens , Joost Nicolai , Gaetan Lesca , Laurence Lion-François , Damien Haye , Nicolas Chatron , Amelie Piton , Mathilde Nizon , Benjamin Cogne , Siddharth Srivastava , Jennifer Bassetti , Candace Muss , Karen W Gripp , Rebecca A Procopio , Francisca Millan , Michelle M Morrow , Melissa Assaf , Andres Moreno-De-Luca , Shelagh Joss , Mark J Hamilton , Marta Bertoli , Nicola Foulds , Shane McKee , Alastair H MacLennan , Jozef Gecz , Mark A Corbett

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

American journal of medical genetics. Part A
Avec: Maninder Kaur , Justin Blair , Batsal Devkota , Sierra Fortunato , Dinah Clark , Audrey Lawrence , Jiwoo Kim , Wonwook Do , Benjamin Semeo , Olivia Katz , Devanshi Mehta , Nobuko Yamamoto , Emma Schindler , Zayd Al Rawi , Nina Wallace , Jonathan J Wilde , Jennifer McCallum , Jinglan Liu , Dongbin Xu , Marie Jackson , Stefan Rentas , Ahmad Abou Tayoun , Zhang Zhe , Omar Abdul-Rahman , Bill Allen , Moris A Angula , Kwame Anyane-Yeboa , Jesús Argente , Pamela H Arn , Linlea Armstrong , Lina Basel-Salmon , Gareth Baynam , Lynne M Bird , Daniel Bruegger , Gaik-Siew Ch'ng , David Chitayat , Robin Clark , Gerald F Cox , Usha Dave , Elfrede DeBaere , Michael Field , John M Graham , Karen W Gripp , Robert Greenstein , Neerja Gupta , Randy Heidenreich , Jodi Hoffman , Robert J Hopkin , Kenneth L Jones , Marilyn C Jones , Ariana Kariminejad , Jillene Kogan , Baiba Lace , Julian Leroy , Sally Ann Lynch , Marie McDonald , Kirsten Meagher , Nancy Mendelsohn , Ieva Micule , John Moeschler , Sheela Nampoothiri , Kaoru Ohashi , Cynthia M Powell , Subhadra Ramanathan , Salmo Raskin , Elizabeth Roeder , Marlene Rio , Alan F Rope , Karan Sangha , Angela E Scheuerle , Adele Schneider , Stavit Shalev , Victoria Siu , Rosemarie Smith , Cathy Stevens , Tinatin Tkemaladze , John Toimie , Helga Toriello , Anne Turner , Patricia G Wheeler , Susan M White , Terri Young , Kathleen M Loomes , Mary Pipan , Ann Tokay Harrington , Elaine Zackai , Ramakrishnan Rajagopalan , Laura Conlin , Matthew A Deardorff , Deborah McEldrew , Juan Pie , Feliciano Ramos , Antonio Musio , Antonie D Kline , Kosuke Izumi , Sarah E Raible , Ian D Krantz

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Andrea Accogli , Sheng-Jia Lin , Mariasavina Severino , Sung-Hoon Kim , Kevin Huang , Clarissa Rocca , Megan Landsverk , Maha S Zaki , Almundher Al-Maawali , Varunvenkat M Srinivasan , Khalid Al-Thihli , G Bradly Schaefer , Monica Davis , Davide Tonduti , Chiara Doneda , Lara M Marten , Chris Mühlhausen , Maria Gomez , Eleonora Lamantea , Rafael Mena , Mathilde Nizon , Vincent Procaccio , Amber Begtrup , Aida Telegrafi , Hong Cui , Heidi L Schulz , Julia Mohr , Saskia Biskup , Mariana Amina Loos , Hilda Verónica Aráoz , Vincenzo Salpietro , Laura Davis Keppen , Manali Chitre , Cassidy Petree , Lucy Raymond , Julie Vogt , Lindsey B Sawyer , Alice A Basinger , Signe Vandal Pedersen , Toni S Pearson , Dorothy K Grange , Lokesh Lingappa , Paige McDunnah , Rita Horvath , Benjamin Cognè , Bertrand Isidor , Andreas Hahn , Karen W Gripp , Seyed Mehdi Jafarnejad , Elsebet Østergaard , Carlos E Prada , Daniele Ghezzi , Vykuntaraju K Gowda , Robert W Taylor , Nahum Sonenberg , Henry Houlden , Marie Sissler , Gaurav K Varshney , Reza Maroofian

Inhibition of post-lanosterol biosynthesis by fentanyl: potential implications for Fetal Fentanyl Syndrome (FFS).

Molecular psychiatry
Avec: Zeljka Korade , Allison C Anderson , Kanika Sharma , Keri A Tallman , Hye-Young H Kim , Ned A Porter , Karen W Gripp , Karoly Mirnics

Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies.

Clinical cancer research : an official journal of the American Association for Cancer Research
Avec: Melissa R Perrino , Anirban Das , Sarah R Scollon , Sarah G Mitchell , Mary-Louise C Greer , Marielle E Yohe , Jordan R Hansford , Jennifer M Kalish , Kris Ann P Schultz , Suzanne P MacFarland , Wendy K Kohlmann , Philip J Lupo , Kara N Maxwell , Stefan M Pfister , Rosanna Weksberg , Orli Michaeli , Marjolijn C J Jongmans , Gail E Tomlinson , Jack Brzezinski , Uri Tabori , Gina M Ney , Karen W Gripp , Andrea M Gross , Brigitte C Widemann , Douglas R Stewart , Emma R Woodward , Christian P Kratz

Réseau de co-auteurs

None None 13 collaborations
Laura Baker 8 collaborations
Louise Amlie-Wolf 7 collaborations
A Micheil Innes 6 collaborations
John M Graham 5 collaborations
Elaine Zackai 5 collaborations
Bruce D Gelb 5 collaborations
Katherine A Rauen 5 collaborations
Katheryn Grand 4 collaborations
Luis Rohena 4 collaborations
Sonal Mahida 4 collaborations
Rosemarie Smith 4 collaborations
Michael J Bamshad 4 collaborations
K Nicole Weaver 4 collaborations
Carlos E Prada 4 collaborations
Lisa Schoyer 4 collaborations
Beth Stronach 4 collaborations
Martin Zenker 4 collaborations
Sébastien Küry 4 collaborations
Dong Li 4 collaborations
Peter M Krawitz 4 collaborations
Margaret Au 3 collaborations
Geoffrey Beek 3 collaborations
Mary-Louise Freckmann 3 collaborations
David Chitayat 3 collaborations
Loren D M Pena 3 collaborations
David R Fitzpatrick 3 collaborations
Stanley F Nelson 3 collaborations
Rami Abou Jamra 3 collaborations
Marleen E H Simon 3 collaborations
Deborah A Nickerson 3 collaborations
Ellen van Binsbergen 3 collaborations
Laurence Faivre 3 collaborations
Yuri A Zarate 3 collaborations
Margaret P Adam 3 collaborations
Lynne M Bird 3 collaborations
William B Dobyns 3 collaborations
Joseph T Shieh 3 collaborations
David A Stevenson 3 collaborations
Aida Telegrafi 3 collaborations
Allan Bayat 3 collaborations
Lindsay B Henderson 3 collaborations
Cyril Mignot 3 collaborations
Maria I Kontaridis 3 collaborations
Lisa Schill 3 collaborations
Anton M Bennett 3 collaborations
Pau Castel 3 collaborations
Tamar Green 3 collaborations
Tom Kamphans 3 collaborations
Alexej Knaus 3 collaborations
Gholson J Lyon 3 collaborations
Tzung-Chien Hsieh 3 collaborations
Nadja Ehmke 3 collaborations
Nicole Fleischer 3 collaborations
Denise Horn 3 collaborations
Michael J Lyons 3 collaborations
Jozef Gecz 3 collaborations
Kosuke Izumi 3 collaborations
Ingrid M Wentzensen 3 collaborations
Susan M White 3 collaborations
Katherine M Robbins 3 collaborations
Mathilde Nizon 3 collaborations
Lina Basel-Salmon 3 collaborations
Christine Shieh 2 collaborations
Natasha Jones 2 collaborations
Brigitte Vanle 2 collaborations
Alden Y Huang 2 collaborations
Ana P G Silva 2 collaborations
Hane Lee 2 collaborations
Emilie D Douine 2 collaborations
Maria G Otero 2 collaborations
Andrew Choi 2 collaborations
Ingrid P Taff 2 collaborations
Mauricio R Delgado 2 collaborations
M J Hajianpour 2 collaborations
Andrea Seeley 2 collaborations
Hilary Vernon 2 collaborations
Samantha A Vergano 2 collaborations
Sakkubai Naidu 2 collaborations
Ana Berta Sousa 2 collaborations
Karen E Wain 2 collaborations
Thomas D Challman 2 collaborations
Donald Basel 2 collaborations
Judith Ranells 2 collaborations
Roman Yusupov 2 collaborations
Lisa Ohden 2 collaborations
Laura Davis-Keppen 2 collaborations
James J Dowling 2 collaborations
Richard Finkel 2 collaborations
Andrew Dauber 2 collaborations
Rebecca Spillmann 2 collaborations
Kay Metcalfe 2 collaborations
Miranda Splitt 2 collaborations
Katherine Lachlan 2 collaborations
Shane A McKee 2 collaborations
Jane Hurst 2 collaborations
Jenny E V Morton 2 collaborations
Helen Cox 2 collaborations
Sunita Venkateswaran 2 collaborations
Juan I Young 2 collaborations
Eric D Marsh 2 collaborations
Julian A Martinez 2 collaborations
Usha Kini 2 collaborations
Joel P Mackay 2 collaborations
Tyler Mark Pierson 2 collaborations
Ghayda M Mirzaa 2 collaborations
Amélie Piton 2 collaborations
Kimberly A Aldinger 2 collaborations
André Reis 2 collaborations
Christian T Thiel 2 collaborations
Milen Velinov 2 collaborations
Austin Larson 2 collaborations
Sandra Yang 2 collaborations
Kristin G Monaghan 2 collaborations
Lance H Rodan 2 collaborations
Jonathan A Bernstein 2 collaborations
Nina B Gold 2 collaborations
Julia Baptista 2 collaborations
Leslie G Biesecker 2 collaborations
Fowzan S Alkuraya 2 collaborations
James T Bennett 2 collaborations
Jennifer M Kalish 2 collaborations
Malgorzata J M Nowaczyk 2 collaborations
Alan F Rope 2 collaborations
Pedro A Sanchez-Lara 2 collaborations
Anne M Slavotinek 2 collaborations
Andrew K Sobering 2 collaborations
Cathy A Stevens 2 collaborations
David D Weaver 2 collaborations
Allison Schreiber 2 collaborations
Ange-Line Bruel 2 collaborations
Julie Fleischer 2 collaborations
Daniel Groepper 2 collaborations
Kristin Lindstrom 2 collaborations
Rolph Pfundt 2 collaborations
Kevin E Glinton 2 collaborations
Margherita Furlan 2 collaborations
Elena Gardella 2 collaborations
Felix Boschann 2 collaborations
Corinna Stoltenburg 2 collaborations
Oliver Puk 2 collaborations
Boris Keren 2 collaborations
Yaping Yang 2 collaborations
Pawel Stankiewicz 2 collaborations
Gregor Andelfinger 2 collaborations
Bruce R Korf 2 collaborations
Pilar L Magoulas 2 collaborations
Elizabeth I Pierpont 2 collaborations
Suma P Shankar 2 collaborations
Marco Tartaglia 2 collaborations
Hellen Lesmann 2 collaborations
Alexander Hustinx 2 collaborations
Shahida Moosa 2 collaborations
Jean Tori Pantel 2 collaborations
Hannah Klinkhammer 2 collaborations
Wolfgang Meiswinkel 2 collaborations
Behnam Javanmardi 2 collaborations
Tinatin Tkemaladze 2 collaborations
Luisa Averdunk 2 collaborations
Tobias B Haack 2 collaborations
Theresa Brunet 2 collaborations
Frédéric Ebstein 2 collaborations
Elke Krüger 2 collaborations
Brian Hon-Yin Chung 2 collaborations
Christopher C Y Mak 2 collaborations
Koen Devriendt 2 collaborations
Alain Verloes 2 collaborations
Christian P Schaaf 2 collaborations
Markus M Nöthen 2 collaborations
Omri Bar 2 collaborations
Saskia Biskup 2 collaborations
Kirsten Cremer 2 collaborations
Magdalena Danyel 2 collaborations
Koenraad Devriendt 2 collaborations
Christine Fauth 2 collaborations
Yaron Gurovich 2 collaborations
Yair Hanani 2 collaborations
Elisabeth Mangold 2 collaborations
Guy Nadav 2 collaborations
Stanislav Rosnev 2 collaborations
Malte Spielmann 2 collaborations
Stefan Mundlos 2 collaborations
Linlea Armstrong 2 collaborations
Donald G Basel 2 collaborations
Eric Haan 2 collaborations
Robert J Hopkin 2 collaborations
Jan Liebelt 2 collaborations
Carey McDougall 2 collaborations
Nancy Mendelsohn 2 collaborations
Cynthia M Powell 2 collaborations
Caleb Rogers 2 collaborations
Gail E Tomlinson 2 collaborations
Eric Legius 2 collaborations
Daniel Doyle 2 collaborations
Angela E Lin 2 collaborations
Rhonda E Schnur 2 collaborations
Michael Field 2 collaborations
Marie Shaw 2 collaborations
Nicholas Katsanis 2 collaborations
Sarah E Sheppard 2 collaborations
Julie S Cohen 2 collaborations
Marilyn C Jones 2 collaborations
Omar Abdul-Rahman 2 collaborations
Elizabeth Bhoj 2 collaborations
Julie D Kaplan 2 collaborations
Beth Keena 2 collaborations
Joan Stoler 2 collaborations
Rosanna Weksberg 2 collaborations
Hakon Hakonarson 2 collaborations
Elaine H Zackai 2 collaborations
Emma Burkitt-Wright 2 collaborations
Michelle Ellis 2 collaborations
Chumei Li 2 collaborations
Tae-Ik Choi 2 collaborations
Chelsea Roadhouse 2 collaborations
Roger E Stevenson 2 collaborations
Cheol-Hee Kim 2 collaborations
Charles E Schwartz 2 collaborations
Andrea M Gross 2 collaborations
Pamela L Wolters 2 collaborations
Frank McCormick 2 collaborations
Douglas R Stewart 2 collaborations
Brigitte C Widemann 2 collaborations
Marielle E Yohe 2 collaborations
Fernando Santos-Simarro 2 collaborations
Philippe M Campeau 2 collaborations
Kerstin Kutsche 2 collaborations
Eric G Bend 2 collaborations
Dan Doherty 2 collaborations
Katia Sol-Church 2 collaborations
Gaetan Lesca 2 collaborations
Jennifer E Posey 2 collaborations
Christopher Gray 2 collaborations
Morgan Thomas 2 collaborations
Andrea Accogli 2 collaborations
Wendy K Chung 2 collaborations
George McGillivray 2 collaborations
David J Amor 2 collaborations
Bertrand Isidor 2 collaborations
Elsebet Østergaard 2 collaborations
Elliot Stolerman 2 collaborations
Erin Wadman 2 collaborations
Mark A Corbett 2 collaborations
Deborah L Stabley 2 collaborations
Shelagh Joss 2 collaborations
Francisca Millan 2 collaborations
Jessica X Chong 1 collaboration
Bernt Popp 1 collaboration
Kimberly Foss 1 collaboration
Hui Guo 1 collaboration
Ricardo Harripaul 1 collaboration
Kun Xia 1 collaboration
Joshua Scheck 1 collaboration
Samin A Sajan 1 collaboration
Sha Tang 1 collaboration
Dominique Bonneau 1 collaboration
Anita Beck 1 collaboration
Janson White 1 collaboration
Jacqueline Harris 1 collaboration
Constance Smith-Hicks 1 collaboration
Juliane Hoyer 1 collaboration
Christiane Zweier 1 collaboration
Natasha Zeid 1 collaboration
Amy Yang 1 collaboration
Laura S Farach 1 collaboration
Laurence Walsh 1 collaboration
Katelyn Payne 1 collaboration
Alban Ziegler 1 collaboration
Elise Schaefer 1 collaboration
Vincent Gatinois 1 collaboration
David Geneviève 1 collaboration
Jennefer Kohler 1 collaboration
Joshua Rotenberg 1 collaboration
Patricia Wheeler 1 collaboration
Michelle E Ernst 1 collaboration
Cigdem I Akman 1 collaboration
Rachel Westman 1 collaboration
Patricia Blanchet 1 collaboration
Lori-Anne Schillaci 1 collaboration
Catherine Vincent-Delorme 1 collaboration
Francesca Mattioli 1 collaboration
Gwenaël Le Guyader 1 collaboration
Bénédicte Gerard 1 collaboration
Michèle Mathieu-Dramard 1 collaboration
Gilles Morin 1 collaboration
Roksana Sasanfar 1 collaboration
Muhammad Ayub 1 collaboration
Nasim Vasli 1 collaboration
Rick Person 1 collaboration
Gregory M Enns 1 collaboration
Annika M Dries 1 collaboration
Leah J Rowe 1 collaboration
Anne C H Tsai 1 collaboration
Shayna Svihovec 1 collaboration
Jennifer Friedman 1 collaboration
Zehra Agha 1 collaboration
Raheel Qamar 1 collaboration
Julian Martinez-Agosto 1 collaboration
Charlotte W Ockeloen 1 collaboration
Marie Vincent 1 collaboration
William James Sunderland 1 collaboration
Evan E Eichler 1 collaboration
John B Vincent 1 collaboration
Melissa J MacPherson 1 collaboration
Sarah L Erickson 1 collaboration
Drayden Kopp 1 collaboration
Pengqiang Wen 1 collaboration
Mohamad-Reza Aghanoori 1 collaboration
Shreeya Kedia 1 collaboration
Kaylan M L Burns 1 collaboration
Antonio Vitobello 1 collaboration
Frederic Tran Mau-Them 1 collaboration
Quentin Thomas 1 collaboration
William Brucker 1 collaboration
Olaf Bodamer 1 collaboration
Mikko Muona 1 collaboration
Lara Menzies 1 collaboration
Katie Guegan 1 collaboration
Alison Male 1 collaboration
Xing-Chang Wei 1 collaboration
Guiqiong He 1 collaboration
Quan Long 1 collaboration
Guang Yang 1 collaboration
Marguerite Care 1 collaboration
Emily Wakefield 1 collaboration
Jesse Skoch 1 collaboration
Anne R Amemiya 1 collaboration
Anita E Beck 1 collaboration
John C Carey 1 collaboration
Brian Chung 1 collaboration
Robin D Clark 1 collaboration
Timothy C Cox 1 collaboration
Cynthia Curry 1 collaboration
Mary Beth Palko Dinulos 1 collaboration
Philip F Giampietro 1 collaboration
Katta M Girisha 1 collaboration
Ian A Glass 1 collaboration
Chad R Haldeman-Englert 1 collaboration
Bryan D Hall 1 collaboration
Kim M Keppler-Noreuil 1 collaboration
Kenjiro Kosaki 1 collaboration
Beth A Kozel 1 collaboration
John J Mulvihill 1 collaboration
Roberta A Pagon 1 collaboration
Kyle Retterer 1 collaboration
Laurie H Seaver 1 collaboration
Tiong Yang Tan 1 collaboration
Wen-Hann Tan 1 collaboration
Anne C Tsai 1 collaboration
Marc S Williams 1 collaboration
Geeske M van Woerden 1 collaboration
Melanie Bos 1 collaboration
Charlotte de Konink 1 collaboration
Ben Distel 1 collaboration
Rossella Avagliano Trezza 1 collaboration
Natasha E Shur 1 collaboration
Kristin Barañano 1 collaboration
Anna Chassevent 1 collaboration
Angelika L Erwin 1 collaboration
Fatima Rehman 1 collaboration
Saskia Brulleman 1 collaboration
Róisín McCormack 1 collaboration
Gwynna de Geus 1 collaboration
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Arthur Sorlin 1 collaboration
David A Koolen 1 collaboration
Melissa K Gabriel 1 collaboration
Mari Rossi 1 collaboration
Andrew O M Wilkie 1 collaboration
Eduardo Calpena 1 collaboration
David Johnson 1 collaboration
Alice Brooks 1 collaboration
Marjon van Slegtenhorst 1 collaboration
Allison Goodwin 1 collaboration
Jennifer Humberson 1 collaboration
Amanda Noyes 1 collaboration
Katherine G Langley 1 collaboration
Amy Blevins 1 collaboration
Jessica Hoffman 1 collaboration
Maria J Guillen Sacoto 1 collaboration
Jane Juusola 1 collaboration
Sumit Punj 1 collaboration
Marleen Simon 1 collaboration
Ype Elgersma 1 collaboration
Tjitske Kleefstra 1 collaboration
Anna C E Hurst 1 collaboration
Kevin M Bowling 1 collaboration
Ingrid Cristian 1 collaboration
Devon Haynes 1 collaboration
Dusit Adstamongkonkul 1 collaboration
Oskar Schnappauf 1 collaboration
David B Beck 1 collaboration
Carole Brewer 1 collaboration
Aditi Shah Parikh 1 collaboration
Deepali N Shinde 1 collaboration
Alan Donaldson 1 collaboration
Ariel Brautbar 1 collaboration
Saskia Koene 1 collaboration
Arie van Haeringen 1 collaboration
Yline Capri 1 collaboration
Rikke Steensbjerre Møller 1 collaboration
Irma van de Beek 1 collaboration
Linda Zuurbier 1 collaboration
Phillis Lakeman 1 collaboration
Julian Martinez 1 collaboration
Rebecca Signer 1 collaboration
Pernille M Torring 1 collaboration
Morten Buch Engelund 1 collaboration
Alina T Midro 1 collaboration
Eugeniusz Tarasów 1 collaboration
Beata Stasiewicz-Jarocka 1 collaboration
Diana Moskal-Jasinska 1 collaboration
Paul Vos 1 collaboration
Inger-Lise Mero 1 collaboration
Kristine Lossius 1 collaboration
Johanna C Acosta Guio 1 collaboration
Ignacio Briceño 1 collaboration
Alberto Gomez 1 collaboration
Amy E Roberts 1 collaboration
Yoko Aoki 1 collaboration
Marni E Axelrad 1 collaboration
Annette Bakker 1 collaboration
Alberto Broniscer 1 collaboration
Caitlin A Chang 1 collaboration
Lukas Cyganek 1 collaboration
Tirtha K Das 1 collaboration
Jeroen den Hertog 1 collaboration
Emilia Galperin 1 collaboration
Shruti Garg 1 collaboration
Kristiana Gordon 1 collaboration
Maxim Itkin 1 collaboration
Maija Kiuru 1 collaboration
Jeff R Livingstone 1 collaboration
Alejandro López-Juárez 1 collaboration
Sahar Mansour 1 collaboration
Theresa Milner 1 collaboration
Elisabeth Parker 1 collaboration
Kevin Plouffe 1 collaboration
Shane B Smith 1 collaboration
Richard Van 1 collaboration
Morgan E Wagner 1 collaboration
Stephanie M Ware 1 collaboration
Elaine Marchi 1 collaboration
Pilar Caro 1 collaboration
Ibrahim M Abdelrazek 1 collaboration
Merle Ten Hagen 1 collaboration
Jing-Mei Li 1 collaboration
Annette Uwineza 1 collaboration
Cordula Knopp 1 collaboration
Miriam Elbracht 1 collaboration
Larissa Mattern 1 collaboration
Clara Velmans 1 collaboration
Vincent Strehlow 1 collaboration
Himanshu Goel 1 collaboration
Beatriz Carvalho Nunes 1 collaboration
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