Author details

Full Name

Luisa Mackenroth

Affiliation

Institut fur Klinische Genetik, Technische Universitat Dresden

ORCID

Career Start Year

2012

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
32970766	Correction: Diagnostic value of partial exome sequencing in developmental disorders.	PLoS One	2020
30091983	Diagnostic value of partial exome sequencing in developmental disorders.	PLoS One	2018
28777483	Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.	Am J Med Genet A	2017
28270404	<i>PBX1</i> haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.	J Med Genet	2017
28472301	New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.	Hum Mol Genet	2017
28324225	Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.	Arch Gynecol Obstet	2017
28807866	BRCA1/2 missense mutations and the value of in-silico analyses.	Eur J Med Genet	2017
28562391	Pierpont syndrome: report of a new patient.	Clin Dysmorphol	2017
26951492	Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.	Neuropediatrics	2016
27581129	Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.	Breast Cancer Res Treat	2016
27504877	Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.	PLoS Genet	2016
27255444	Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.	Am J Med Genet A	2016
26799614	An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.	Am J Med Genet A	2016
27057656	Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.	Clin Dysmorphol	2016
26022348	HBOC multi-gene panel testing: comparison of two sequencing centers.	Breast Cancer Res Treat	2015
26334553	6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities.	Am J Med Genet A	2015
25186178	Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.	Sci Transl Med	2014
22476784	Label-free differentiation of human pituitary adenomas by FT-IR spectroscopic imaging.	Anal Bioanal Chem	2012

1 - 18 of 18

Irene Valenzuela

Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari

Career Start Year 2013

Number of shared co-authors 3

Jair Tenorio

Institute of Medical and Molecular Genetics, Hospital University La Paz

Career Start Year 2012

Number of shared co-authors 3

Anneke T Vulto-van Silfhout

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 7

Francesca Clementina Radio

Ospedale Pediatrico Bambino Gesu IRCCS

Career Start Year 2009

Number of shared co-authors 3

Marzia Pollazzon

Azienda USL-IRCCS di Reggio Emilia

Career Start Year 2008

Number of shared co-authors 2

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 1

Ahmet Okay Caglayan

Yale School of Medicine

Career Start Year 2007

Number of shared co-authors 0

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 3

Kaya Bilguvar

Acibadem Mehmet Ali Aydinlar University

Career Start Year 2005

Number of shared co-authors 0

Claire Beneteau

Hopital Universitaire de Nantes

Career Start Year 2005

Number of shared co-authors 2

Eva Klopocki

Institute for Human Genetics, University of Wurzburg

Career Start Year 2004

Number of shared co-authors 14

Sofia Douzgou

Haukeland University Hospital

Career Start Year 2004

Number of shared co-authors 11

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 6

David A Koolen

Donders Institute for Brain, Radboud University Medical Center

Career Start Year 2002

Number of shared co-authors 3

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Career Start Year 2001

Number of shared co-authors 3

Francesca Mari

Institute de Pathologie et de Genetique ASBL

Career Start Year 2000

Number of shared co-authors 2

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 12

Dragana Josifova

Guy's and St Thomas' Hospital

Career Start Year 2000

Number of shared co-authors 4

H??lya Kayserili

Istanbul University

Career Start Year 1996

Number of shared co-authors 8

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 7

Nicole de Leeuw

Radboud University Medical Center

Career Start Year 1996

Number of shared co-authors 9

Ariana Kariminejad

Clinical Genetics Deaprtment

Career Start Year 1996

Number of shared co-authors 2

Pablo Lapunzina

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 13

Franco Stanzial

Genetic Counseling Service - Regional Hospital of Bolzano

Career Start Year 1993

Number of shared co-authors 0

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 6

Bert B A de Vries

Radboud University Medical Center

Career Start Year 1992

Number of shared co-authors 8

Shehla Mohammed

Guy's and St Thomas' NHS Foundation Trust

Career Start Year 1992

Number of shared co-authors 5

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 5

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 3

Alessandra Renieri

University of Siena

Career Start Year 1984

Number of shared co-authors 2

row(s) 1 - 30 of 30

Jochen Hecht

The Barcelona Institute of Science and Technology

Co-authored papers 2

Uwe Kornak

Institute of Human Genetics, University Medical Center Gottingen

Co-authored papers 2

Bj??rn Fischer-Zirnsak

Max Planck Institute for Molecular Genetics FG Development and Disease

Co-authored papers 2

Stefan Mundlos

Max Planck Institute for Molecular Genetics

Co-authored papers 2

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Co-authored papers 2

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 1

G??tz Frommer

Max-Planck-Institut fur biophysikalische Chemie

Co-authored papers 1

Maria Cristina Digilio

Co-authored papers 1

Amin Ardeshirdavani

STADIUS Center for Dynamical Systems

Co-authored papers 1

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 1