H. Malmgren

发表

Capture PCR: efficient amplification of DNA fragments adjacent to a known sequence in human and YAC DNA.

J. Parik, U. Landegren, U. Pettersson, 1991, PCR methods and applications.

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter‐ and intra‐individual variation and correlation to the phenotype

L. Jacobson, E. Blennow, A. Lindstrand, 2012, American Journal of Medical Genetics. Part A.

Padlock probes: circularizing oligonucleotides for localized DNA detection.

U Landegren, U. Landegren, M. Nilsson, 1994, Science.

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

P. Georgii‐Hemming, A. Nordgren, J. Eisfeldt, 2019, Genome Medicine.

University of Groningen De Novo Loss-of-Function Mutations in USP 9 X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

R. Pfundt, M. Reijnders, J. Gécz, 2018 .

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

R. Pfundt, M. Reijnders, J. Gécz, 2016, American journal of human genetics.

Detailed molecular and clinical characterization of three patients with 21q deletions

A. Nordgren, E. Blennow, A. Lindstrand, 2010, Clinical genetics.

Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).

G. Holmgren, U. Pettersson, E. Seemanová, 1989, American journal of human genetics.

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.

L. Levin, H. Helgadottir, A. Nordgren, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

METHYLATION AND MUTATION PATTERNS IN THE FRAGILE X SYNDROME

J. Mandel, G. Holmgren, U. Pettersson, 1992, Pediatric Research.

Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal–Hreidarsson syndrome

A. Nordgren, S. Böhm, H. Malmgren, 2020, Cell Death & Disease.

Small mosaic deletion encompassing the snoRNAs and SNURF‐SNRPN results in an atypical Prader–Willi syndrome phenotype

A. Nordgren, M. Lehtihet, B. Anderlid, 2014, American journal of medical genetics. Part A.

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

C. Mathew, F. Rousseau, A. Barnicoat, 1994, American journal of human genetics.

One-cell biopsy significantly improves the outcome of preimplantation genetic diagnosis (PGD) treatment: retrospective analysis of 569 PGD cycles at the Stockholm PGD centre.

E. Blennow, M. Nordenskjöld, H. Malmgren, 2012, Human reproduction.

Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities

E. Blennow, L. Ährlund‐Richter, M. Nordenskjöld, 2001, Prenatal diagnosis.

Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome.

W J Kleijer, U. Pettersson, M. Bondeson, 1995, Human molecular genetics.

Kali T. Witherspoon, Bradley P. Coe, B. Coe, 2014, Nature Genetics.

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants

A. Nordgren, A. Lindstrand, H. Malmgren, 2022, Molecular genetics & genomic medicine.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Mark T. Handley, M. Hurles, D. Grozeva, 2017, Genetics in Medicine.

Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers

E. Blennow, L. Ährlund‐Richter, M. Nordenskjöld, 2000, Prenatal diagnosis.

Concurrent microdeletion and duplication of 22q11.2

E. Blennow, J. Schoumans, B. Anderlid, 2008, Clinical genetics.

A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

A. Ameur, G. Annéren, M. Bondeson, 2017, Prenatal diagnosis.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

J. Rosenfeld, A. V. Vulto-van Silfhout, B. D. de Vries, 2019, Biological Psychiatry.

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

B. V. van Bon, N. de Leeuw, H. Brunner, 2014, European Journal of Human Genetics.

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Anna Lindstrand, Michael J Parker, Avni Santani, 2015, American journal of human genetics.

GSTM1 Gene Expression Correlates to Leiomyoma Volume Regression in Response to Mifepristone Treatment

H. Malmgren, K. Gemzell‐Danielsson, B. Byström, 2013, PloS one.

Comparative genomic hybridization and karyotyping of human embryonic stem cells reveals the occurrence of an isodicentric X chromosome after long-term cultivation.

E. Blennow, O. Hovatta, O. Hovatta, 2004, Molecular human reproduction.

Single cell CGH analysis reveals a high degree of mosaicism in human embryos from patients with balanced structural chromosome aberrations.

E. Blennow, M. Nordenskjöld, O. Hovatta, 2002, Molecular human reproduction.

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

B. V. van Bon, N. de Leeuw, H. Brunner, 2015, European Journal of Human Genetics.

Preimplantation genetic diagnosis: twenty years of practice.

E. Blennow, H. Malmgren, E. Iwarsson, 2011, Seminars in fetal & neonatal medicine.

Improved structural characterization of chromosomal breakpoints using high resolution custom array‐CGH

E. Blennow, A. Lindstrand, J. Schoumans, 2010, Clinical genetics.

Molecular and clinical characterization of patients with overlapping 10p deletions

A. Nordgren, E. Blennow, A. Lindstrand, 2010, American journal of medical genetics. Part A.

Molecular cytogenetic characterization of an insertional translocation, ins(6;7)(p25;q33q34): Deletion/duplication of 7q33‐34 and clinical correlations

E. Blennow, H. Malmgren, G. Malm, 2005, American journal of medical genetics. Part A.

Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion

E. Blennow, A. Lindstrand, J. Schoumans, 2008, American journal of medical genetics. Part A.

Identification of an alternative transcript from the human iduronate-2-sulfatase (IDS) gene.

U. Pettersson, M. Bondeson, H. Malmgren, 1995, Genomics.

Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities

B. Fadeel, M. Nordenskjöld, N. Dahl, 2009, Pediatric blood & cancer.

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability

A. Nordgren, D. Nilsson, M. Nordenskjöld, 2018, Clinical genetics.

Carrier detection of the fragile X syndrome using flanking loci DXS98, DXS105, and DXS304.

G. Holmgren, U. Pettersson, E. Seemanová, 1991, American journal of medical genetics.

The polymorphic marker DXS304 is within 5 centimorgans of the fragile X locus.

J. Mandel, U. Pettersson, A. Hanauer, 1989, Genomics.

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

A. Nordgren, J. Eisfeldt, D. Nilsson, 2021, Genome Medicine.

In vivo differentiated human embryonic stem cells can acquire chromosomal aberrations more frequently than in vitro during the same period.

J. Kere, M. Zucchelli, O. Hovatta, 2012, Stem Cells and Development.

The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C

P. Svenningsson, A. Espay, L. Verrecchia, 2019, Cerebellum & Ataxias.

Distal 3p deletion syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review

E. Blennow, H. Malmgren, S. Sahlén, 2007, American journal of medical genetics. Part A.

Rapid detection of a mutation hot‐spot in the human androgen receptor

N. Dahl, H. Malmgren, T. Tuvemo, 1996, Clinical genetics.

Linkage mapping of a severe X-linked mental retardation syndrome.

C. Wadelius, M. Sundvall, U. Pettersson, 1993, American journal of human genetics.

1.5-Mb YAC contig in Xq28 formatted with sequence-tagged sites and including a region unstable in the clones.

D. Schlessinger, M. D'urso, A. Casamassimi, 1993, Genomics.

Strong Founder Effect for the Fragile X Syndrome in Sweden

G. Holmgren, N. Dahl, H. Malmgren, 1994, European journal of human genetics : EJHG.

Expanding the ataxia with oculomotor apraxia type 4 phenotype

P. Svenningsson, A. Nordgren, M. Paucar, 2016, Neurology: Genetics.

Meiotic segregation analyses of reciprocal translocations in spermatozoa and embryos: no support for predictive value regarding PGD outcome.

H. Malmgren, I. White, E. Syk Lundberg, 2017, Reproductive biomedicine online.

New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death.

G. Annéren, N. Dahl, H. Malmgren, 1993, American journal of medical genetics.

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

A. Nordgren, E. Eklund, D. Nilsson, 2015, European Journal of Human Genetics.

Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders

P. Svenningsson, M. Nordenskjöld, V. Niemelä, 2023, Journal of the Neurological Sciences.

Paroxysmal Kinesigenic Dyskinesia

P. Svenningsson, M. Paucar, H. Malmgren, 2017, Tremor and other hyperkinetic movements.

Linkage Analysis ofFamilies withFragile-X MentalRetardation, Using a NovelRFLPMarker(DXS304)

G. Holmgren, E. Seemanová, N. Dahl, 1989 .

Preimplantation Genetic Diagnosis—An Overview

H. Malmgren, E. Iwarsson, T. Bui, 2004 .

Infantile autism--fragile X: molecular findings support genetic heterogeneity.

U. Pettersson, N. Dahl, H. Malmgren, 1992, American journal of medical genetics.

Study of individuals possibly affected with the fragile X syndrome in a large Swedish family in the 18th to 20th centuries.

G. Holmgren, N. Dahl, H. Malmgren, 1992, American journal of medical genetics.

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

H. Helgadottir, D. Nilsson, A. Lindstrand, 2023, Frontiers in Neurology.

Expanding the ataxia with oculomotor apraxia type 4 phenotype

P. Svenningsson, A. Nordgren, M. Paucar, 2016, Neurology: Genetics.

Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation

J. Eisfeldt, A. Lindstrand, H. Malmgren, 2022, Human Mutation.

Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders

P. Svenningsson, M. Nordenskjöld, V. Niemelä, 2023, Journal of the Neurological Sciences.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Ibitoye, Fitzpatrick, Connell, 2017, Genetics in Medicine.

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Golder N Wilson, E. Zackai, A. Nordgren, 2015, American journal of human genetics.