W J Introne

Affiliations

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Publications (21)

Chediak-Higashi syndrome: a review of the past, present, and future.

Drug discovery today. Disease models

Avec: Prashant Sharma , Elena-Raluca Nicoli , Jenny Serra-Vinardell , Marie Morimoto , Camilo Toro , May Christine V Malicdan , Wendy J Introne

Spectrum of

Journal of medical genetics

Avec: Marie Morimoto , Elena-Raluca Nicoli , Chulaluck Kuptanon , Joseph C Roney , Jenny Serra-Vinardell , Prashant Sharma , David R Adams , John I Gallin , Steven M Holland , Sergio D Rosenzweig , Jose Barbot , Carla Ciccone , Marjan Huizing , Camilo Toro , William A Gahl , Wendy J Introne , May Christine V Malicdan

Assessment of Thyroid Function in Patients With Alkaptonuria.

JAMA network open

Avec: Shirisha Avadhanula , Wendy J Introne , Sungyoung Auh , Steven J Soldin , Brian Stolze , Debra Regier , Carla Ciccone , Fady Hannah-Shmouni , Armando C Filie , Kenneth D Burman , Joanna Klubo-Gwiezdzinska

Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study.

Journal of internal medicine

Avec: K J O'Brien , X Parisi , N R Shelman , M A Merideth , W J Introne , T Heller , W A Gahl , M C V Malicdan , B R Gochuico

Diagnosis of Chediak Higashi disease in a 67-year old woman.

American journal of medical genetics. Part A

Avec: David S Yarnell , Joseph C Roney , Cláudia Teixeira , Maria I Freitas , Ana Cipriano , Pedro Leuschner , Konrad Krzewski , Joshi Stephen , Heidi Dorward , William A Gahl , Bernadette R Gochuico , Camilo Toro , May C Malicdan , Wendy J Introne

LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.

Cellular and molecular life sciences : CMLS

Avec: Jenny Serra-Vinardell , Maxwell B Sandler , Raffaella De Pace , Javier Manzella-Lapeira , Antony Cougnoux , Keyvan Keyvanfar , Wendy J Introne , Joseph A Brzostowski , Michael E Ward , William A Gahl , Prashant Sharma , May Christine V Malicdan

One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B.

JCI insight

Avec: David R Adams , Supriya Menezes , Ramon Jauregui , Zaheer M Valivullah , Bradley Power , Maria Abraham , Brett G Jeffrey , Angel Garced , Ramakrishna P Alur , Denise Cunningham , Edythe Wiggs , Melissa A Merideth , Pei-Wen Chiang , Shanna Bernstein , Shosuke Ito , Kazumasa Wakamatsu , Rhona M Jack , Wendy J Introne , William A Gahl , Brian P Brooks

The neuropsychological phenotype of Chediak-Higashi disease.

Orphanet journal of rare diseases

Avec: Talia N Shirazi , Joseph Snow , Lillian Ham , Greta B Raglan , Edythe A Wiggs , Angela C Summers , Camilo Toro , Wendy J Introne

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.

American journal of human genetics

Avec: Molly E Kuo , Arjan F Theil , Anneke Kievit , May Christine Malicdan , Wendy J Introne , Thomas Christian , Frans W Verheijen , Desiree E C Smith , Marisa I Mendes , Lidia Hussaarts-Odijk , Eric van der Meijden , Marjon van Slegtenhorst , Martina Wilke , Wim Vermeulen , Anja Raams , Catherine Groden , Shino Shimada , Rebecca Meyer-Schuman , Ya Ming Hou , William A Gahl , Anthony Antonellis , Gajja S Salomons , Grazia M S Mancini

Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia.

Ophthalmology science

Avec: Volha V Malechka , Dat Duong , Keyla D Bordonada , Amy Turriff , Delphine Blain , Elizabeth Murphy , Wendy J Introne , Bernadette R Gochuico , David R Adams , Wadih M Zein , Brian P Brooks , Laryssa A Huryn , Benjamin D Solomon , Robert B Hufnagel

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.

NPJ genomic medicine

Avec: Marie Morimoto , Vikas Bhambhani , Nour Gazzaz , Mariska Davids , Paalini Sathiyaseelan , Ellen F Macnamara , Jennifer Lange , Anna Lehman , Patricia M Zerfas , Jennifer L Murphy , Maria T Acosta , Camille Wang , Emily Alderman , Auteur inconnu , Sara Reichert , Audrey Thurm , David R Adams , Wendy J Introne , Sharon M Gorski , Cornelius F Boerkoel , William A Gahl , Cynthia J Tifft , May Christine V Malicdan

Type 2 innate immunity promotes the development of pulmonary fibrosis in Hermansky-Pudlak syndrome.

JCI insight

Avec: Parand Sorkhdini , Kiran Klubock-Shukla , Selena Sheth , Dongqin Yang , Alina Xiaoyu Yang , Carmelissa Norbrun , Wendy J Introne , Bernadette R Gochuico , Yang Zhou

Aortic distensibility in alkaptonuria.

Molecular genetics and metabolism

Avec: Rashmi Thimmapuram , W Patricia Bandettini , Sujata M Shanbhag , Jeannie H Yu , Kevin J O'Brien , William A Gahl , Wendy J Introne , Marcus Y Chen

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Orphanet journal of rare diseases

Avec: Bradley Power , Carlos R Ferreira , Dong Chen , Wadih M Zein , Kevin J O'Brien , Wendy J Introne , Joshi Stephen , William A Gahl , Marjan Huizing , May Christine V Malicdan , David R Adams , Bernadette R Gochuico

Genetic variants associated with Hermansky-Pudlak syndrome.

Platelets

Avec: Melissa A Merideth , Wendy J Introne , Jennifer A Wang , Kevin J O'Brien , Marjan Huizing , Bernadette R Gochuico

Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial.

Molecular genetics and metabolism

Avec: Kathryn R Spears , Francis Rossignol , Monique B Perry , Michael A Kayser , Pim Suwannarat , Kevin E O'Brien , Joy C Bryant , Wendy F Greenwood , Steve Fuller , William A Gahl , Wendy J Introne

Impairment of Renal Function in Hermansky-Pudlak Syndrome.

American journal of nephrology

Avec: Tadafumi Yokoyama , Kevin J O'Brien , Tesiya M Franklin , Ben Long G Zuo , Mei Xing G Zuo , Melissa A Merideth , Wendy J Introne , Bernadette R Gochuico

Chediak-Higashi syndrome.

Current opinion in hematology

Avec: Mackenzie L Talbert , May Christine V Malicdan , Wendy J Introne

A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.

American journal of medical genetics. Part A

Avec: Cathy D Vocke , Leah R Fleming , Anna M Piskorski , Ali Amin , Chanika Phornphutkul , Suzanne de la Monte , Thierry Vilboux , Folami Duncan , Joan Pellegrino , Bonnie Braddock , Lindsay A Middelton , Laura S Schmidt , Maria J Merino , Edward W Cowen , Wendy J Introne , W Marston Linehan , Ann C M Smith

Alkaptonuria.

Nature reviews. Disease primers

Avec: Giulia Bernardini , Daniela Braconi , Andrea Zatkova , Nick Sireau , Mariusz J Kujawa , Wendy J Introne , Ottavia Spiga , Michela Geminiani , James A Gallagher , Lakshminarayan R Ranganath , Annalisa Santucci

Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.

Human genetics

Avec: Prashant Sharma , Jason R McFadden , F Graeme Frost , Thomas C Markello , Dorothy K Grange , Wendy J Introne , William A Gahl , May Christine V Malicdan

Réseau de co-auteurs

Wendy J Introne 20 collaborations

William A Gahl 10 collaborations

May Christine V Malicdan 7 collaborations

Bernadette R Gochuico 6 collaborations

David R Adams 5 collaborations

Prashant Sharma 4 collaborations

Camilo Toro 4 collaborations

Kevin J O'Brien 4 collaborations

Jenny Serra-Vinardell 3 collaborations

Marie Morimoto 3 collaborations

Marjan Huizing 3 collaborations

Melissa A Merideth 3 collaborations

Elena-Raluca Nicoli 2 collaborations

Joseph C Roney 2 collaborations

Carla Ciccone 2 collaborations

Joshi Stephen 2 collaborations

Bradley Power 2 collaborations

Brian P Brooks 2 collaborations

Wadih M Zein 2 collaborations

Chulaluck Kuptanon 1 collaboration

John I Gallin 1 collaboration

Steven M Holland 1 collaboration

Sergio D Rosenzweig 1 collaboration

Jose Barbot 1 collaboration

Shirisha Avadhanula 1 collaboration

Sungyoung Auh 1 collaboration

Steven J Soldin 1 collaboration

Brian Stolze 1 collaboration

Debra Regier 1 collaboration

Fady Hannah-Shmouni 1 collaboration

Armando C Filie 1 collaboration

Kenneth D Burman 1 collaboration

Joanna Klubo-Gwiezdzinska 1 collaboration

K J O'Brien 1 collaboration

X Parisi 1 collaboration

N R Shelman 1 collaboration

M A Merideth 1 collaboration

T Heller 1 collaboration

W A Gahl 1 collaboration

M C V Malicdan 1 collaboration

B R Gochuico 1 collaboration

David S Yarnell 1 collaboration

Cláudia Teixeira 1 collaboration

Maria I Freitas 1 collaboration

Ana Cipriano 1 collaboration

Pedro Leuschner 1 collaboration

Konrad Krzewski 1 collaboration

Heidi Dorward 1 collaboration

May C Malicdan 1 collaboration

Maxwell B Sandler 1 collaboration

Raffaella De Pace 1 collaboration

Javier Manzella-Lapeira 1 collaboration

Antony Cougnoux 1 collaboration

Keyvan Keyvanfar 1 collaboration

Joseph A Brzostowski 1 collaboration

Michael E Ward 1 collaboration

Supriya Menezes 1 collaboration

Ramon Jauregui 1 collaboration

Zaheer M Valivullah 1 collaboration

Maria Abraham 1 collaboration

Brett G Jeffrey 1 collaboration

Angel Garced 1 collaboration

Ramakrishna P Alur 1 collaboration

Denise Cunningham 1 collaboration

Edythe Wiggs 1 collaboration

Pei-Wen Chiang 1 collaboration

Shanna Bernstein 1 collaboration

Shosuke Ito 1 collaboration

Kazumasa Wakamatsu 1 collaboration

Rhona M Jack 1 collaboration

Talia N Shirazi 1 collaboration

Joseph Snow 1 collaboration

Lillian Ham 1 collaboration

Greta B Raglan 1 collaboration

Edythe A Wiggs 1 collaboration

Angela C Summers 1 collaboration

Molly E Kuo 1 collaboration

Arjan F Theil 1 collaboration

Anneke Kievit 1 collaboration

May Christine Malicdan 1 collaboration

Thomas Christian 1 collaboration

Frans W Verheijen 1 collaboration

Desiree E C Smith 1 collaboration

Marisa I Mendes 1 collaboration

Lidia Hussaarts-Odijk 1 collaboration

Eric van der Meijden 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Martina Wilke 1 collaboration

Wim Vermeulen 1 collaboration

Anja Raams 1 collaboration

Catherine Groden 1 collaboration

Shino Shimada 1 collaboration

Rebecca Meyer-Schuman 1 collaboration

Ya Ming Hou 1 collaboration

Anthony Antonellis 1 collaboration

Gajja S Salomons 1 collaboration

Grazia M S Mancini 1 collaboration

Volha V Malechka 1 collaboration

Dat Duong 1 collaboration

Keyla D Bordonada 1 collaboration

Amy Turriff 1 collaboration

Delphine Blain 1 collaboration

Elizabeth Murphy 1 collaboration

Laryssa A Huryn 1 collaboration

Benjamin D Solomon 1 collaboration

Robert B Hufnagel 1 collaboration

Vikas Bhambhani 1 collaboration

Nour Gazzaz 1 collaboration

Mariska Davids 1 collaboration

Paalini Sathiyaseelan 1 collaboration

Ellen F Macnamara 1 collaboration

Jennifer Lange 1 collaboration

Anna Lehman 1 collaboration

Patricia M Zerfas 1 collaboration

Jennifer L Murphy 1 collaboration

Maria T Acosta 1 collaboration

Camille Wang 1 collaboration

Emily Alderman 1 collaboration

None None 1 collaboration

Sara Reichert 1 collaboration

Audrey Thurm 1 collaboration

Sharon M Gorski 1 collaboration

Cornelius F Boerkoel 1 collaboration

Cynthia J Tifft 1 collaboration

Parand Sorkhdini 1 collaboration

Kiran Klubock-Shukla 1 collaboration

Selena Sheth 1 collaboration

Dongqin Yang 1 collaboration

Alina Xiaoyu Yang 1 collaboration

Carmelissa Norbrun 1 collaboration

Yang Zhou 1 collaboration

Rashmi Thimmapuram 1 collaboration

W Patricia Bandettini 1 collaboration

Sujata M Shanbhag 1 collaboration

Jeannie H Yu 1 collaboration

Marcus Y Chen 1 collaboration

Carlos R Ferreira 1 collaboration

Dong Chen 1 collaboration

Jennifer A Wang 1 collaboration

Kathryn R Spears 1 collaboration

Francis Rossignol 1 collaboration

Monique B Perry 1 collaboration

Michael A Kayser 1 collaboration

Pim Suwannarat 1 collaboration

Kevin E O'Brien 1 collaboration

Joy C Bryant 1 collaboration

Wendy F Greenwood 1 collaboration

Steve Fuller 1 collaboration

Tadafumi Yokoyama 1 collaboration

Tesiya M Franklin 1 collaboration

Ben Long G Zuo 1 collaboration

Mei Xing G Zuo 1 collaboration

Mackenzie L Talbert 1 collaboration

Cathy D Vocke 1 collaboration

Leah R Fleming 1 collaboration

Anna M Piskorski 1 collaboration

Ali Amin 1 collaboration

Chanika Phornphutkul 1 collaboration

Suzanne de la Monte 1 collaboration

Thierry Vilboux 1 collaboration

Folami Duncan 1 collaboration

Joan Pellegrino 1 collaboration

Bonnie Braddock 1 collaboration

Lindsay A Middelton 1 collaboration

Laura S Schmidt 1 collaboration

Maria J Merino 1 collaboration

Edward W Cowen 1 collaboration

W Marston Linehan 1 collaboration

Ann C M Smith 1 collaboration

Giulia Bernardini 1 collaboration

Daniela Braconi 1 collaboration

Andrea Zatkova 1 collaboration

Nick Sireau 1 collaboration

Mariusz J Kujawa 1 collaboration

Ottavia Spiga 1 collaboration

Michela Geminiani 1 collaboration

James A Gallagher 1 collaboration

Lakshminarayan R Ranganath 1 collaboration

Annalisa Santucci 1 collaboration

Jason R McFadden 1 collaboration

F Graeme Frost 1 collaboration

Thomas C Markello 1 collaboration

Dorothy K Grange 1 collaboration