Author details

Full Name

Fernanda Abani Mafra

Affiliation

Center for Applied Genomics, Children's Hospital of Philadelphia

ORCID

Career Start Year

2009

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37235472	Macrophages in SHH subgroup medulloblastoma display dynamic heterogeneity that varies with treatment modality.	Cell Rep	2023
33349347	A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening.	J Mol Diagn	2021
33789113	Macrophages in SHH subgroup medulloblastoma display dynamic heterogeneity that varies with treatment modality.	Cell Rep	2021
34161437	Genetic analysis of products of conception. Should we abandon classic karyotyping methodology?	Einstein (Sao Paulo)	2021
33444816	scRNA-Seq Reveals New Enteric Nervous System Roles for GDNF, NRTN, and TBX3.	Cell Mol Gastroenterol Hepatol	2021
32352843	Variants in the Kisspeptin-GnRH Pathway Modulate the Hormonal Profile and Reproductive Outcomes.	DNA Cell Biol	2020
31913291	Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.	Sci Data	2020
30044155	New candidate genes associated to endometriosis.	Gynecol Endocrinol	2019
31811119	LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data.	Nat Commun	2019
27817035	Copy number variation analysis reveals additional variants contributing to endometriosis development.	J Assist Reprod Genet	2017
26153366	Evaluation of the frequency of G-765C polymorphism in the promoter region of the COX-2 gene and its correlation with the expression of this gene in the endometrium of women with endometriosis.	Arch Gynecol Obstet	2016
28076602	Incidence of Y-chromosome microdeletions in children whose fathers underwent vasectomy reversal or in vitro fertilization with epididymal sperm aspiration: a case-control study.	Einstein (Sao Paulo)	2016
26126067	Causes of endometriosis and prevalent infertility in patients undergoing laparoscopy without achieving pregnancy.	Minerva Ginecol	2016
25170625	45,X karyotype in an infertile man: how is this possible?	Urol Int	2015
26139156	Association of WNT4 polymorphisms with endometriosis in infertile patients.	J Assist Reprod Genet	2015
25403437	CYP2C19 polymorphism increases the risk of endometriosis.	J Assist Reprod Genet	2015
24321595	Aberrant telomerase expression in the endometrium of infertile women with deep endometriosis.	Arch Med Res	2014
24839463	Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications.	Mol Cytogenet	2014
23000200	TYK2 rs34536443 polymorphism is associated with a decreased susceptibility to endometriosis-related infertility.	Hum Immunol	2013
23799909	There is no relationship between Paraoxonase serum level activity in women with endometriosis and the stage of the disease: an observational study.	Reprod Health	2013
22341374	Genetic association study of polymorphisms FOXP3 and FCRL3 in women with endometriosis.	Fertil Steril	2012
29662365	Prevalence of cases of <i>Mycoplasma hominis</i>, <i>Mycoplasma genitalium</i>, <i>Ureaplasma urealyticum</i> and <i>Chlamydia trachomatis</i> in women with no gynecologic complaints.	Reprod Med Biol	2012
22222816	The possible role of genetic variants in autoimmune-related genes in the development of endometriosis.	Hum Immunol	2012
21277927	Analysis of vitamin D receptor gene polymorphisms in women with and without endometriosis.	Hum Immunol	2011
21764500	Combination of polymorphisms in luteinizing hormone Î², estrogen receptor Î² and progesterone receptor and susceptibility to infertility and endometriosis.	Eur J Obstet Gynecol Reprod Biol	2011
21557841	Chromosomal and molecular abnormalities in a group of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia attending an infertility service.	Int Braz J Urol	2011
21382069	Severe oligospermia associated with a unique balanced reciprocal translocation t(6;12)(q23;q24.3): male infertility related to t(6;12).	Andrologia	2011
19363680	OC-125 immunostaining in endometriotic lesion samples.	Arch Gynecol Obstet	2010
21243274	The progins progesterone receptor gene polymorphism is not related to endometriosis-associated infertility or to idiopathic infertility.	Clinics (Sao Paulo)	2010
20857063	Polymorphism of the estrogen receptor Î² gene is related to infertility and infertility-associated endometriosis.	Arq Bras Endocrinol Metabol	2010
20430510	Luteinizing hormone beta-subunit gene (LHbeta) polymorphism in infertility and endometriosis-associated infertility.	Eur J Obstet Gynecol Reprod Biol	2010
19878085	+1730 G/A polymorphism of the estrogen receptor beta gene (ERbeta) may be an important genetic factor predisposing to endometriosis.	Acta Obstet Gynecol Scand	2009

1 - 32 of 32

Ieva Grinfelde

Riga Stradins University

Career Start Year 2011

Number of shared co-authors 0

Deniz Simsek

Eskisehir Technical University

Career Start Year 2009

Number of shared co-authors 0

Liuhong Cai

Chengdu Yumei Hospital

Career Start Year 2007

Number of shared co-authors 0

Digna R Velez Edwards

Vanderbilt University Medical Center

Career Start Year 2006

Number of shared co-authors 2

Thomas Fr??our

Nantes Universite, Inserm

Career Start Year 2006

Number of shared co-authors 0

Wei Wang

The Seventh Medical Center of Chinese PLA General Hospital

Career Start Year 2006

Number of shared co-authors 1

Feng Zhang

Obstetrics and Gynecology Hospital, Human Phenome Institute, Fudan University

Career Start Year 2004

Number of shared co-authors 2

Yanzhi Du

Center for Reproductive Medicine, Ren Ji Hospital, Shanghai Jiao Tong University

Career Start Year 2004

Number of shared co-authors 0

Sharon E Johnatty

QIMR Berghofer Medical Research Institute

Career Start Year 2000

Number of shared co-authors 1

Samantha F Butts

Pennsylvania State Hershey Medical Center

Career Start Year 1999

Number of shared co-authors 0

Thomas A Molinaro

New Jersey Robert Wood Johnson Medical School

Career Start Year 1999

Number of shared co-authors 0

Yuanqing Yao

The First Medical Center of PLA General Hospital

Career Start Year 1999

Number of shared co-authors 0

Ronit Haimov-Kochman

Hadassah Hebrew University Medical Center

Career Start Year 1997

Number of shared co-authors 0

Celeste Leigh Pearce

University of Michigan School of Public Health ann arbor

Career Start Year 1995

Number of shared co-authors 1

Michael E Carney

John A. Burns School of Medicine, University of Hawaii

Career Start Year 1995

Number of shared co-authors 1

Rebecca Sutphen

College of Medicine, University of South Florida

Career Start Year 1995

Number of shared co-authors 0

Stuart Lavery

Imperial College London

Career Start Year 1995

Number of shared co-authors 0

Bo Zhang

West China Hospital, Sichuan University

Career Start Year 1994

Number of shared co-authors 0

Canquan Zhou

The First Affiliated Hospital of Sun Yat-sen University

Career Start Year 1994

Number of shared co-authors 0

Wilson A Silva

Ribeirao Preto Medical School - University of Sao Paulo

Career Start Year 1994

Number of shared co-authors 0

Kurt T Barnhart

University of Pennsylvania

Career Start Year 1993

Number of shared co-authors 0

Susan J Ramus

School of Clinical Medicine, University of NSW Sydney, Lowy Cancer Research Centre

Career Start Year 1991

Number of shared co-authors 2

Amanda B Spurdle

QIMR Berghofer Medical Research Institute

Career Start Year 1990

Number of shared co-authors 1

Anuja Dokras

Perelman School of Medicine, University of Pennsylvania

Career Start Year 1990

Number of shared co-authors 0

Janusz Menkiszak

Pomeranian Medical University in Szczecin

Career Start Year 1986

Number of shared co-authors 1

Fran??ois Rousseau

Universite Laval

Career Start Year 1986

Number of shared co-authors 0

David B Seifer

Yale School of Medicine

Career Start Year 1984

Number of shared co-authors 0

Christos Coutifaris

University of Pennsylvania

Career Start Year 1982

Number of shared co-authors 0

Ariel Revel

Kadimastem Ltd

Career Start Year 1978

Number of shared co-authors 0

Zev Rosenwaks

Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine

Career Start Year 1977

Number of shared co-authors 0

row(s) 1 - 30 of 30

Hakon Hakonarson

The Center for Applied Genomics, Children's Hospital of Philadelphia

Co-authored papers 7

Renata Pellegrino

Co-authored papers 3

Ian W Folkert

Perelman School of Medicine, University of Pennsylvania

Co-authored papers 2

Komal S Rathi

Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia

Co-authored papers 2

Pichai Raman

Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia

Co-authored papers 2

Candace L Savonen

Johns Hopkins Bloomberg School of Public Health

Co-authored papers 2

Jaclyn N Taroni

Alex's Lemonade Stand Foundation

Co-authored papers 2

Daniel Martinez

Perelman School of Medicine at the University of Pennsylvania

Co-authored papers 2

Mai T Dang

Children's Hospital of Philadelphia

Co-authored papers 2

Tom Curran

Medical University of South Carolina

Co-authored papers 2

Casey S Greene

Dartmouth College Geisel School of Medicine, Princeton University, University of Colorado Anschutz Medical Campus, University of Pennsylvania Perelman School of Medicine

Co-authored papers 2

Malay Haldar

Perelman School of Medicine, University of Pennsylvania

Co-authored papers 2

Samir Devalaraja

Perelman School of Medicine, University of Pennsylvania

Co-authored papers 2

Md Zahidul Alam

Perelman School of Medicine, University of Pennsylvania

Co-authored papers 2

Krutika S Gaonkar

Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia