M Konstantino

Affiliations

Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT, 06510, USA.

Publications (15)

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.

American journal of medical genetics. Part A

Avec: Emily K Mis , Samir Al-Ali , Weizhen Ji , Michele Spencer-Manzon , Monica Konstantino , Mustafa K Khokha , Lauren Jeffries , Saquib A Lakhani

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

Human molecular genetics

Avec: Reham Alharatani , Athina Ververi , Ana Beleza-Meireles , Weizhen Ji , Emily Mis , Quinten T Patterson , John N Griffin , Nabina Bhujel , Caitlin A Chang , Abhijit Dixit , Monica Konstantino , Christopher Healy , Sumayyah Hannan , Natsuko Neo , Alex Cash , Dong Li , Elizabeth Bhoj , Elaine H Zackai , Ruth Cleaver , Diana Baralle , Meriel McEntagart , Ruth Newbury-Ecob , Richard Scott , Jane A Hurst , Ping Yee Billie Au , Marie Therese Hosey , Mustafa Khokha , Denise K Marciano , Saquib A Lakhani , Karen J Liu

Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the

Cold Spring Harbor molecular case studies

Avec: Catherine Kiraly-Borri , Gareth Jevon , Weizhen Ji , Lauren Jeffries , Jamie-Lee Ricciardi , Monica Konstantino , Kate G Ackerman , Saquib A Lakhani

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

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

Avec: Lauren Jeffries , Emily K Mis , Kirsty McWalter , Sandra Donkervoort , Nina N Brodsky , Jean-Marie Carpier , Weizhen Ji , Cristian Ionita , Bhaskar Roy , Jon S Morrow , Armine Darbinyan , Krishna Iyer , Ritu B Aul , Siddharth Banka , Katherine R Chao , Laura Cobbold , Stacey Cohen , Helena M Custodio , Margaret Drummond-Borg , Frances Elmslie , Erika Finanger , Bryan E Hainline , Ingo Helbig , Stacy Hewson , Ying Hu , Adam Jackson , Dragana Josifova , Monica Konstantino , Meganne E Leach , Bryan Mak , David McCormick , Elisabeth McGee , Stanley Nelson , Joanne Nguyen , Kimberly Nugent , Lucy Ortega , Howard P Goodkin , Elizabeth Roeder , Sani Roy , Katie Sapp , Dimah Saade , Sanjay M Sisodiya , Karen Stals , Shelley Towner , William Wilson , Auteur inconnu , Auteur inconnu , Auteur inconnu , Mustafa K Khokha , Carsten G Bönnemann , Carrie L Lucas , Saquib A Lakhani

A retrospective cohort analysis of the Yale pediatric genomics discovery program.

American journal of medical genetics. Part A

Avec: Samir Al-Ali , Lauren Jeffries , E Vincent S Faustino , Weizhen Ji , Emily Mis , Monica Konstantino , Cynthia Zerillo , Yong-Hui Jiang , Michele Spencer-Manzon , Allen Bale , Hui Zhang , Julie McGlynn , James M McGrath , Thierry Tremblay , Nina N Brodsky , Carrie L Lucas , Richard Pierce , Engin Deniz , Mustafa K Khokha , Saquib A Lakhani

Expansion of NEUROD2 phenotypes to include developmental delay without seizures.

American journal of medical genetics. Part A

Avec: Emily K Mis , Annalisa G Sega , Rebecca H Signer , Tracy Cartwright , Weizhen Ji , Julian A Martinez-Agosto , Stanley F Nelson , Christina G S Palmer , Hane Lee , Thomas Mitzelfelt , Monica Konstantino , Auteur inconnu , Lauren Jeffries , Mustafa K Khokha , Elysa Marco , Martin G Martin , Saquib A Lakhani

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.

BMC nephrology

Avec: Ibrahim Sandokji , Jonathan Marquez , Weizhen Ji , Cynthia A Zerillo , Monica Konstantino , Saquib A Lakhani , Mustafa K Khokha , Jillian K Warejko

A Novel Pathogenic

Drug metabolism and disposition: the biological fate of chemicals

Avec: Walaa Elfar , Erkka Järvinen , Weizhen Ji , Johanna Mosorin , Annalisa G Sega , Alina C Iuga , Steven J Lobritto , Monica Konstantino , Albert Chan , Moshe Finel , Saquib A Lakhani

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.

European journal of medical genetics

Avec: Brent A Penque , Leila Su , Jianghai Wang , Weizhen Ji , Allen Bale , Frank Luh , Robert K Fulbright , Uzair Sarmast , Annalisa G Sega , Monica Konstantino , Michele Spencer-Manzon , Richard Pierce , Yun Yen , Saquib A Lakhani

Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.

European journal of medical genetics

Avec: Lauren Jeffries , Jordan E Olivieri , Weizhen Ji , Michele Spencer-Manzon , Allen Bale , Monica Konstantino , Saquib A Lakhani

International journal of molecular sciences

Avec: Matthew P O'Brien , Marina V Pryzhkova , Evelyn M R Lake , Francesca Mandino , Xilin Shen , Ruchika Karnik , Alisa Atkins , Michelle J Xu , Weizhen Ji , Monica Konstantino , Martina Brueckner , Laura R Ment , Mustafa K Khokha , Philip W Jordan

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.

Journal of medical genetics

Avec: Annalisa G Sega , Emily K Mis , Kristin Lindstrom , Saadet Mercimek-Andrews , Weizhen Ji , Megan T Cho , Jane Juusola , Monica Konstantino , Lauren Jeffries , Mustafa K Khokha , Saquib Ali Lakhani

Journal of medical genetics

Avec: Jonathan Marquez , Nina Mann , Kathya Arana , Engin Deniz , Weizhen Ji , Monica Konstantino , Emily K Mis , Charu Deshpande , Lauren Jeffries , Julie McGlynn , Hannah Hugo , Eugen Widmeier , Martin Konrad , Velibor Tasic , Raffaella Morotti , Julia Baptista , Sian Ellard , Saquib Ali Lakhani , Friedhelm Hildebrandt , Mustafa K Khokha

CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability.

Developmental biology

Avec: E Deniz , M Pasha , M E Guerra , S Viviano , W Ji , M Konstantino , L Jeffries , S A Lakhani , L Medne , C Skraban , I Krantz , M K Khokha

Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Anisa Bibi , Weizhen Ji , Lauren Jeffries , Cynthia Zerillo , Monica Konstantino , Emily K Mis , Filza Khursheed , Mustafa K Khokha , Saquib A Lakhani , Sajid Malik

Réseau de co-auteurs

Weizhen Ji 14 collaborations

Monica Konstantino 14 collaborations

Saquib A Lakhani 11 collaborations

Mustafa K Khokha 9 collaborations

Lauren Jeffries 9 collaborations

Emily K Mis 6 collaborations

Michele Spencer-Manzon 4 collaborations

None None 4 collaborations

Annalisa G Sega 4 collaborations

Allen Bale 3 collaborations

Samir Al-Ali 2 collaborations

Emily Mis 2 collaborations

Nina N Brodsky 2 collaborations

Carrie L Lucas 2 collaborations

Cynthia Zerillo 2 collaborations

Julie McGlynn 2 collaborations

Richard Pierce 2 collaborations

Engin Deniz 2 collaborations

Jonathan Marquez 2 collaborations

Saquib Ali Lakhani 2 collaborations

Reham Alharatani 1 collaboration

Athina Ververi 1 collaboration

Ana Beleza-Meireles 1 collaboration

Quinten T Patterson 1 collaboration

John N Griffin 1 collaboration

Nabina Bhujel 1 collaboration

Caitlin A Chang 1 collaboration

Abhijit Dixit 1 collaboration

Christopher Healy 1 collaboration

Sumayyah Hannan 1 collaboration

Natsuko Neo 1 collaboration

Alex Cash 1 collaboration

Dong Li 1 collaboration

Elizabeth Bhoj 1 collaboration

Elaine H Zackai 1 collaboration

Ruth Cleaver 1 collaboration

Diana Baralle 1 collaboration

Meriel McEntagart 1 collaboration

Ruth Newbury-Ecob 1 collaboration

Richard Scott 1 collaboration

Jane A Hurst 1 collaboration

Ping Yee Billie Au 1 collaboration

Marie Therese Hosey 1 collaboration

Mustafa Khokha 1 collaboration

Denise K Marciano 1 collaboration

Karen J Liu 1 collaboration

Catherine Kiraly-Borri 1 collaboration

Gareth Jevon 1 collaboration

Jamie-Lee Ricciardi 1 collaboration

Kate G Ackerman 1 collaboration

Kirsty McWalter 1 collaboration

Sandra Donkervoort 1 collaboration

Jean-Marie Carpier 1 collaboration

Cristian Ionita 1 collaboration

Bhaskar Roy 1 collaboration

Jon S Morrow 1 collaboration

Armine Darbinyan 1 collaboration

Krishna Iyer 1 collaboration

Ritu B Aul 1 collaboration

Siddharth Banka 1 collaboration

Katherine R Chao 1 collaboration

Laura Cobbold 1 collaboration

Stacey Cohen 1 collaboration

Helena M Custodio 1 collaboration

Margaret Drummond-Borg 1 collaboration

Frances Elmslie 1 collaboration

Erika Finanger 1 collaboration

Bryan E Hainline 1 collaboration

Ingo Helbig 1 collaboration

Stacy Hewson 1 collaboration

Ying Hu 1 collaboration

Adam Jackson 1 collaboration

Dragana Josifova 1 collaboration

Meganne E Leach 1 collaboration

Bryan Mak 1 collaboration

David McCormick 1 collaboration

Elisabeth McGee 1 collaboration

Stanley Nelson 1 collaboration

Joanne Nguyen 1 collaboration

Kimberly Nugent 1 collaboration

Lucy Ortega 1 collaboration

Howard P Goodkin 1 collaboration

Elizabeth Roeder 1 collaboration

Sani Roy 1 collaboration

Katie Sapp 1 collaboration

Dimah Saade 1 collaboration

Sanjay M Sisodiya 1 collaboration

Karen Stals 1 collaboration

Shelley Towner 1 collaboration

William Wilson 1 collaboration

Carsten G Bönnemann 1 collaboration

E Vincent S Faustino 1 collaboration

Yong-Hui Jiang 1 collaboration

Hui Zhang 1 collaboration

James M McGrath 1 collaboration

Thierry Tremblay 1 collaboration

Rebecca H Signer 1 collaboration

Tracy Cartwright 1 collaboration

Julian A Martinez-Agosto 1 collaboration

Stanley F Nelson 1 collaboration

Christina G S Palmer 1 collaboration

Hane Lee 1 collaboration

Thomas Mitzelfelt 1 collaboration

Elysa Marco 1 collaboration

Martin G Martin 1 collaboration

Ibrahim Sandokji 1 collaboration

Cynthia A Zerillo 1 collaboration

Jillian K Warejko 1 collaboration

Walaa Elfar 1 collaboration

Erkka Järvinen 1 collaboration

Johanna Mosorin 1 collaboration

Alina C Iuga 1 collaboration

Steven J Lobritto 1 collaboration

Albert Chan 1 collaboration

Moshe Finel 1 collaboration

Brent A Penque 1 collaboration

Leila Su 1 collaboration

Jianghai Wang 1 collaboration

Frank Luh 1 collaboration

Robert K Fulbright 1 collaboration

Uzair Sarmast 1 collaboration

Yun Yen 1 collaboration

Jordan E Olivieri 1 collaboration

Matthew P O'Brien 1 collaboration

Marina V Pryzhkova 1 collaboration

Evelyn M R Lake 1 collaboration

Francesca Mandino 1 collaboration

Xilin Shen 1 collaboration

Ruchika Karnik 1 collaboration

Alisa Atkins 1 collaboration

Michelle J Xu 1 collaboration

Martina Brueckner 1 collaboration

Laura R Ment 1 collaboration

Philip W Jordan 1 collaboration

Kristin Lindstrom 1 collaboration

Saadet Mercimek-Andrews 1 collaboration

Megan T Cho 1 collaboration

Jane Juusola 1 collaboration

Nina Mann 1 collaboration

Kathya Arana 1 collaboration

Charu Deshpande 1 collaboration

Hannah Hugo 1 collaboration

Eugen Widmeier 1 collaboration

Martin Konrad 1 collaboration

Velibor Tasic 1 collaboration

Raffaella Morotti 1 collaboration

Julia Baptista 1 collaboration

Sian Ellard 1 collaboration

Friedhelm Hildebrandt 1 collaboration

E Deniz 1 collaboration

M Pasha 1 collaboration

M E Guerra 1 collaboration

S Viviano 1 collaboration

W Ji 1 collaboration

L Jeffries 1 collaboration

S A Lakhani 1 collaboration

L Medne 1 collaboration

C Skraban 1 collaboration

I Krantz 1 collaboration

M K Khokha 1 collaboration

Anisa Bibi 1 collaboration

Filza Khursheed 1 collaboration

Sajid Malik 1 collaboration