Publications by authors named "Katherine Lachlan"

52Publications

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

Authors:
Sara Giangiobbe Stefano Giuseppe Caraffi Ivan Ivanovski Ilenia Maini Marzia Pollazzon Simonetta Rosato Gabriele Trimarchi Anna Lauriello Maria Marinelli Davide Nicoli Chiara Baldo Steven Laurie Josue Flores-Daboub Aldesia Provenzano Elena Andreucci Francesca Peluso Renata Rizzo Helen Stewart Katherine Lachlan Allan Bayat Manuela Napoli Giorgia Carboni Janice Baker Alyssa Mendel Gianluca Piatelli Chiara Pantaleoni Teresa Mattina Paolo Prontera Nancy J Mendelsohn Sabrina Giglio Orsetta Zuffardi Livia Garavelli

Am J Med Genet A 2020 12 11;182(12):2877-2886. Epub 2020 Oct 11.

Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

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December 2020

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.

Authors:
David A Parry Carol-Anne Martin Philip Greene Joseph A Marsh Moira Blyth Helen Cox Deirdre Donnelly Lynn Greenhalgh Stephanie Greville-Heygate Victoria Harrison Katherine Lachlan Caoimhe McKenna Alan J Quigley Gillian Rea Lisa Robertson Mohnish Suri Andrew P Jackson

Genet Med 2020 Oct 9. Epub 2020 Oct 9.

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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October 2020

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.

Authors:
Anna Durkin Shadi Albaba Andrew E Fry Jenny E Morton Andrew Douglas Ana Beleza Denise Williams Catharina M L Volker-Touw Sally A Lynch Natalie Canham Virginia Clowes Volker Straub Katherine Lachlan Frances Gibbon Mayy El Gamal Vinod Varghese Michael J Parker Ruth Newbury-Ecob Peter D Turnpenny Alice Gardham Neeti Ghali Meena Balasubramanian

Am J Med Genet A 2020 07 22;182(7):1637-1654. Epub 2020 Apr 22.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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July 2020

Primrose syndrome: Characterization of the phenotype in 42 patients.

Authors:
Daniela Melis Daniel Carvalho Tina Barbaro-Dieber Alberto J Espay Michael J Gambello Blanca Gener Erica Gerkes Marrit M Hitzert Hanne B Hove Sandra Jansen Petr E Jira Katherine Lachlan Leonie A Menke Vinodh Narayanan Damara Ortiz Eline Overwater Renata Posmyk Keri Ramsey Alessandro Rossi Renata Lazari Sandoval Constance Stumpel Kyra E Stuurman Viviana Cordeddu Peter Turnpenny Pietro Strisciuglio Marco Tartaglia Sheela Unger Todd Waters Clare Turnbull Raoul C Hennekam

Clin Genet 2020 06 20;97(6):890-901. Epub 2020 Apr 20.

Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.

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June 2020

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Authors:
Christine Shieh Natasha Jones Brigitte Vanle Margaret Au Alden Y Huang Ana P G Silva Hane Lee Emilie D Douine Maria G Otero Andrew Choi Katheryn Grand Ingrid P Taff Mauricio R Delgado M J Hajianpour Andrea Seeley Luis Rohena Hilary Vernon Karen W Gripp Samantha A Vergano Sonal Mahida Sakkubai Naidu Ana Berta Sousa Karen E Wain Thomas D Challman Geoffrey Beek Donald Basel Judith Ranells Rosemarie Smith Roman Yusupov Mary-Louise Freckmann Lisa Ohden Laura Davis-Keppen David Chitayat James J Dowling Richard Finkel Andrew Dauber Rebecca Spillmann Loren D M Pena Kay Metcalfe Miranda Splitt Katherine Lachlan Shane A McKee Jane Hurst David R Fitzpatrick Jenny E V Morton Helen Cox Sunita Venkateswaran Juan I Young Eric D Marsh Stanley F Nelson Julian A Martinez John M Graham Usha Kini Joel P Mackay Tyler Mark Pierson

Genet Med 2020 Apr;22(4):822

Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

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April 2020

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Authors:
Christine Shieh Natasha Jones Brigitte Vanle Margaret Au Alden Y Huang Ana P G Silva Hane Lee Emilie D Douine Maria G Otero Andrew Choi Katheryn Grand Ingrid P Taff Mauricio R Delgado M J Hajianpour Andrea Seeley Luis Rohena Hilary Vernon Karen W Gripp Samantha A Vergano Sonal Mahida Sakkubai Naidu Ana Berta Sousa Karen E Wain Thomas D Challman Geoffrey Beek Donald Basel Judith Ranells Rosemarie Smith Roman Yusupov Mary-Louise Freckmann Lisa Ohden Laura Davis-Keppen David Chitayat James J Dowling Richard Finkel Andrew Dauber Rebecca Spillmann Loren D M Pena Kay Metcalfe Miranda Splitt Katherine Lachlan Shane A McKee Jane Hurst David R Fitzpatrick Jenny E V Morton Helen Cox Sunita Venkateswaran Juan I Young Eric D Marsh Stanley F Nelson Julian A Martinez John M Graham Usha Kini Joel P Mackay Tyler Mark Pierson

Genet Med 2020 05 17;22(5):878-888. Epub 2020 Jan 17.

Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

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May 2020

Haematological chimerism masquerading as disorder of sex development.

Authors:
Sophia D Sakka Kathy Mann Katherine Lachlan Justin H Davies Mark Bateman Muriel Holder-Espinasse Ved Bhushan Arya

Clin Endocrinol (Oxf) 2020 05 3;92(5):487-489. Epub 2020 Feb 3.

Department of Paediatric Endocrinology, King's College Hospital, London, UK.

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May 2020

Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.

Authors:
Farah Kanani Hannah Titheradge Nicola Cooper Frances Elmslie Melissa M Lees Jane Juusola Laura Pisani Carolyn McKenna Cyril Mignot Stephanie Valence Boris Keren Katherine Lachlan Meena Balasubramanian

Am J Med Genet A 2020 04 11;182(4):713-720. Epub 2020 Jan 11.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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April 2020

Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Authors:
Karin Weiss Hayley P Lazar Alina Kurolap Ariel F Martinez Tamar Paperna Lior Cohen Marie F Smeland Sandra Whalen Solveig Heide Boris Keren Pauline Terhal Melita Irving Motoki Takaku John D Roberts Robert M Petrovich Samantha A Schrier Vergano Amy Kenney Hanne Hove Elizabeth DeChene Shane C Quinonez Estelle Colin Alban Ziegler Melissa Rumple Mahim Jain Danielle Monteil Elizabeth R Roeder Kimberly Nugent Arie van Haeringen Michael Gambello Avni Santani Līvija Medne Bryan Krock Cara M Skraban Elaine H Zackai Holly A Dubbs Thomas Smol Jamal Ghoumid Michael J Parker Michael Wright Peter Turnpenny Jill Clayton-Smith Kay Metcalfe Hitoshi Kurumizaka Bruce D Gelb Hagit Baris Feldman Philippe M Campeau Maximilian Muenke Paul A Wade Katherine Lachlan

Genet Med 2020 Mar;22(3):669

Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust. Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK.

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March 2020

Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome.

Authors:
Mary B Callaghan Rob Hadden Jon S King Katherine Lachlan Fleur S van Dijk Peter D Turnpenny

Am J Med Genet A 2020 03 12;182(3):553-556. Epub 2019 Dec 12.

Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.

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March 2020

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.

Authors:
Philip J Ostrowski Anna Zachariou Chey Loveday Ana Beleza-Meireles Marta Bertoli John Dean Andrew G L Douglas Ian Ellis Alison Foster John M Graham Jennifer Hague Yvonne Hilhorst-Hofstee Mariette Hoffer Diana Johnson Dragana Josifova Sarina G Kant Usha Kini Katherine Lachlan Wayne Lam Melissa Lees Sally Lynch Silvia Maitz Shane McKee Kay Metcalfe Katherine Nathanson Charlotte W Ockeloen Michael J Parker Tyler M Pierson Elisa Rahikkala Pedro A Sanchez-Lara Alice Spano Lionel Van Maldergem Trevor Cole Sofia Douzgou Katrina Tatton-Brown

Am J Med Genet C Semin Med Genet 2019 12 13;181(4):557-564. Epub 2019 Nov 13.

South West Thames Regional Genetics Service, St George's University NHS Foundation Trust, London, UK.

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December 2019

Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.

Authors:
Philip J Ostrowski Anna Zachariou Chey Loveday Diana Baralle Edward Blair Sofia Douzgou Michael Field Alison Foster Claire Kyle Katherine Lachlan Sahar Mansour Swati Naik Gillian Rea Sarah Smithson Yves Sznajer Elizabeth Thompson Trevor Cole Katrina Tatton-Brown

Am J Med Genet C Semin Med Genet 2019 12 12;181(4):638-643. Epub 2019 Nov 12.

South West Thames Regional Genetics Service, St George's University NHS Foundation Trust, London, UK.

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December 2019

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature.

Authors:
William L Macken Marc Tischkowitz Katherine L Lachlan

Am J Med Genet C Semin Med Genet 2019 12 14;181(4):591-610. Epub 2019 Oct 14.

Wessex Clinical Genetics Service, University Hospitals Southampton NHS Trust, Southampton, United Kingdom.

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December 2019

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Authors:
Stuart Aitken Helen V Firth Jeremy McRae Mihail Halachev Usha Kini Michael J Parker Melissa M Lees Katherine Lachlan Ajoy Sarkar Shelagh Joss Miranda Splitt Shane McKee Andrea H Németh Richard H Scott Caroline F Wright Joseph A Marsh Matthew E Hurles David R FitzPatrick

Am J Hum Genet 2019 11 10;105(5):933-946. Epub 2019 Oct 10.

Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

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November 2019

Contribution of retrotransposition to developmental disorders.

Authors:
Eugene J Gardner Elena Prigmore Giuseppe Gallone Petr Danecek Kaitlin E Samocha Juliet Handsaker Sebastian S Gerety Holly Ironfield Patrick J Short Alejandro Sifrim Tarjinder Singh Kate E Chandler Emma Clement Katherine L Lachlan Katrina Prescott Elisabeth Rosser David R FitzPatrick Helen V Firth Matthew E Hurles

Nat Commun 2019 10 11;10(1):4630. Epub 2019 Oct 11.

Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton, CB10 1SA, UK.

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October 2019

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Authors:
Karin Weiss Hayley P Lazar Alina Kurolap Ariel F Martinez Tamar Paperna Lior Cohen Marie F Smeland Sandra Whalen Solveig Heide Boris Keren Pauline Terhal Melita Irving Motoki Takaku John D Roberts Robert M Petrovich Samantha A Schrier Vergano Amy Kenney Hanne Hove Elizabeth DeChene Shane C Quinonez Estelle Colin Alban Ziegler Melissa Rumple Mahim Jain Danielle Monteil Elizabeth R Roeder Kimberly Nugent Arie van Haeringen Michael Gambello Avni Santani Līvija Medne Bryan Krock Cara M Skraban Elaine H Zackai Holly A Dubbs Thomas Smol Jamal Ghoumid Michael J Parker Michael Wright Peter Turnpenny Jill Clayton-Smith Kay Metcalfe Hitoshi Kurumizaka Bruce D Gelb Hagit Baris Feldman Philippe M Campeau Maximilian Muenke Paul A Wade Katherine Lachlan

Genet Med 2020 02 7;22(2):389-397. Epub 2019 Aug 7.

Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust. Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK.

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February 2020

Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs.

Authors:
Magdalena Laugsch Michaela Bartusel Rizwan Rehimi Hafiza Alirzayeva Agathi Karaolidou Giuliano Crispatzu Peter Zentis Milos Nikolic Tore Bleckwehl Petros Kolovos Wilfred F J van Ijcken Tomo Šarić Katrin Koehler Peter Frommolt Katherine Lachlan Julia Baptista Alvaro Rada-Iglesias

Cell Stem Cell 2019 05 11;24(5):736-752.e12. Epub 2019 Apr 11.

Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany; Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany; Institute of Biomedicine and Biotechnology of Cantabria (IBBTEC), University of Cantabria, Cantabria, Spain. Electronic address:

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May 2019

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.

Authors:
Jessica A Radley Rory B G O'Sullivan Sarah E Turton Helen Cox Julie Vogt Jenny Morton Elizabeth Jones Sarah Smithson Katherine Lachlan Julia Rankin Jill Clayton-Smith Josh Willoughby Frances F Elmslie Francis H Sansbury Nicola Cooper Meena Balasubramanian

Clin Genet 2019 04;95(4):496-506

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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April 2019

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.

Authors:
Ruth Cleaver Jonathan Berg Emily Craft Alison Foster Richard J Gibbons Emma Hobson Katherine Lachlan Swati Naik Julian R Sampson Saba Sharif Sarah Smithson Michael J Parker Katrina Tatton-Brown

Am J Med Genet A 2019 03 13;179(3):344-349. Epub 2019 Jan 13.

South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom.

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March 2019

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Authors:
Keren Machol Justine Rousseau Sophie Ehresmann Thomas Garcia Thi Tuyet Mai Nguyen Rebecca C Spillmann Jennifer A Sullivan Vandana Shashi Yong-Hui Jiang Nicholas Stong Elise Fiala Marcia Willing Rolph Pfundt Tjitske Kleefstra Megan T Cho Heather McLaughlin Monica Rosello Piera Carmen Orellana Francisco Martínez Alfonso Caro-Llopis Sandra Monfort Tony Roscioli Cheng Yee Nixon Michael F Buckley Anne Turner Wendy D Jones Peter M van Hasselt Floris C Hofstede Koen L I van Gassen Alice S Brooks Marjon A van Slegtenhorst Katherine Lachlan Jessica Sebastian Suneeta Madan-Khetarpal Desai Sonal Naidu Sakkubai Julien Thevenon Laurence Faivre Alice Maurel Slavé Petrovski Ian D Krantz Jennifer M Tarpinian Jill A Rosenfeld Brendan H Lee Philippe M Campeau

Am J Hum Genet 2019 01 20;104(1):164-178. Epub 2018 Dec 20.

Department of Pediatrics, CHU Sainte-Justine Research Center and University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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January 2019

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.

Authors:
Jessica L Mester Rajarshi Ghosh Tina Pesaran Robert Huether Rachid Karam Kathleen S Hruska Helio A Costa Katherine Lachlan Joanne Ngeow Jill Barnholtz-Sloan Kaitlin Sesock Felicia Hernandez Liying Zhang Laura Milko Sharon E Plon Madhuri Hegde Charis Eng

Hum Mutat 2018 11;39(11):1581-1592

Case Comprehensive Cancer Center, Cleveland, Ohio.

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November 2018

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

Authors:
Fabiola Ceroni Domingo Aguilera-Garcia Nicolas Chassaing Dorine Arjanne Bax Fiona Blanco-Kelly Patricia Ramos Maria Tarilonte Cristina Villaverde Luciana Rodrigues Jacy da Silva Maria Juliana Ballesta-Martínez Maria Jose Sanchez-Soler Richard James Holt Lisa Cooper-Charles Jonathan Bruty Yvonne Wallis Dominic McMullan Jonathan Hoffman David Bunyan Alison Stewart Helen Stewart Katherine Lachlan Alan Fryer Victoria McKay Joëlle Roume Pascal Dureau Anand Saggar Michael Griffiths Patrick Calvas Carmen Ayuso Marta Corton Nicola K Ragge

Hum Genet 2019 Sep 20;138(8-9):1027-1042. Epub 2018 Feb 20.

Faculty of Health and Life Sciences, Oxford Brookes University, Gipsy Lane, Oxford, OX3 0BP, UK.

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September 2019

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.

Authors:
Mark S Bateman Morag N Collinson David J Bunyan Amanda L Collins Philippa Duncan Rachel Firth Victoria Harrison Tessa Homfray Shuwen Huang Beth Kirk Katherine L Lachlan Viv K Maloney John C K Barber

Am J Med Genet A 2018 02 1;176(2):319-329. Epub 2017 Dec 1.

Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.

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February 2018

: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.

Authors:
Gaia Andreoletti Eleanor G Seaby Jennifer M Dewing Ita O'Kelly Katherine Lachlan Rodney D Gilbert Sarah Ennis

J Med Genet 2017 04 3;54(4):269-277. Epub 2016 Nov 3.

Human Genetics & Genomic Medicine, University of Southampton, Duthie Building (Mailpoint 808), Southampton General Hospital, Southampton, UK.

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April 2017

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

Authors:
Patricia Fergelot Martine Van Belzen Julien Van Gils Alexandra Afenjar Christine M Armour Benoit Arveiler Lex Beets Lydie Burglen Tiffany Busa Marie Collet Julie Deforges Bert B A de Vries Elena Dominguez Garrido Nathalie Dorison Juliette Dupont Christine Francannet Sixto Garciá-Minaúr Elisabeth Gabau Vila Samuel Gebre-Medhin Blanca Gener Querol David Geneviève Marion Gérard Cristina Giovanna Gervasini Alice Goldenberg Dragana Josifova Katherine Lachlan Saskia Maas Bruno Maranda Jukka S Moilanen Ann Nordgren Philippe Parent Julia Rankin Willie Reardon Marlène Rio Joëlle Roume Adam Shaw Robert Smigiel Amaia Sojo Benjamin Solomon Agnieszka Stembalska Constance Stumpel Francisco Suarez Paulien Terhal Simon Thomas Renaud Touraine Alain Verloes Catherine Vincent-Delorme Josephine Wincent Dorien J M Peters Oliver Bartsch Lidia Larizza Didier Lacombe Raoul C Hennekam

Am J Med Genet A 2016 12 20;170(12):3069-3082. Epub 2016 Sep 20.

Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.

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December 2016

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

Authors:
Natália Duarte Linhares Maíra Cristina Menezes Freire Raony Guimarães Corrêa do Carmo Lisboa Cardenas Heloisa Barbosa Pena Katherine Lachlan Bruno Dallapiccola Carlos Bacino Bruno Delobel Paul James Ann-Charlotte Thuresson Göran Annerén Sérgio D J Pena

Genet Mol Biol 2016 Jul-Sep;39(3):349-57. Epub 2016 Aug 4.

Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil.

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August 2016

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Authors:
Alejandro Sifrim Marc-Phillip Hitz Anna Wilsdon Jeroen Breckpot Saeed H Al Turki Bernard Thienpont Jeremy McRae Tomas W Fitzgerald Tarjinder Singh Ganesh Jawahar Swaminathan Elena Prigmore Diana Rajan Hashim Abdul-Khaliq Siddharth Banka Ulrike M M Bauer Jamie Bentham Felix Berger Shoumo Bhattacharya Frances Bu'Lock Natalie Canham Irina-Gabriela Colgiu Catherine Cosgrove Helen Cox Ingo Daehnert Allan Daly John Danesh Alan Fryer Marc Gewillig Emma Hobson Kirstin Hoff Tessa Homfray Anne-Karin Kahlert Ami Ketley Hans-Heiner Kramer Katherine Lachlan Anne Katrin Lampe Jacoba J Louw Ashok Kumar Manickara Dorin Manase Karen P McCarthy Kay Metcalfe Carmel Moore Ruth Newbury-Ecob Seham Osman Omer Willem H Ouwehand Soo-Mi Park Michael J Parker Thomas Pickardt Martin O Pollard Leema Robert David J Roberts Jennifer Sambrook Kerry Setchfield Brigitte Stiller Chris Thornborough Okan Toka Hugh Watkins Denise Williams Michael Wright Seema Mital Piers E F Daubeney Bernard Keavney Judith Goodship Riyadh Mahdi Abu-Sulaiman Sabine Klaassen Caroline F Wright Helen V Firth Jeffrey C Barrett Koenraad Devriendt David R FitzPatrick J David Brook Matthew E Hurles

Nat Genet 2016 09 1;48(9):1060-5. Epub 2016 Aug 1.

Wellcome Trust Sanger Institute, Cambridge, UK.

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September 2016

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Authors:
Morad Ansari Jacqueline Rainger Isabel M Hanson Kathleen A Williamson Freddie Sharkey Louise Harewood Angela Sandilands Jill Clayton-Smith Helene Dollfus Pierre Bitoun Francoise Meire Judy Fantes Brunella Franco Birgit Lorenz David S Taylor Fiona Stewart Colin E Willoughby Meriel McEntagart Peng Tee Khaw Carol Clericuzio Lionel Van Maldergem Denise Williams Ruth Newbury-Ecob Elias I Traboulsi Eduardo D Silva Mukhlis M Madlom David R Goudie Brian W Fleck Dagmar Wieczorek Juergen Kohlhase Alice D McTrusty Carol Gardiner Christopher Yale Anthony T Moore Isabelle Russell-Eggitt Lily Islam Melissa Lees Philip L Beales Stephen J Tuft Juan B Solano Miranda Splitt Jens Michael Hertz Trine E Prescott Deborah J Shears Ken K Nischal Martine Doco-Fenzy Fabienne Prieur I Karen Temple Katherine L Lachlan Giuseppe Damante Danny A Morrison Veronica van Heyningen David R FitzPatrick

PLoS One 2016 28;11(4):e0153757. Epub 2016 Apr 28.

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.

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February 2017

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Authors:
Bobby G Ng Sergey A Shiryaev Daisy Rymen Erik A Eklund Kimiyo Raymond Martin Kircher Jose E Abdenur Fusun Alehan Alina T Midro Michael J Bamshad Rita Barone Gerard T Berry Jane E Brumbaugh Kati J Buckingham Katie Clarkson F Sessions Cole Shawn O'Connor Gregory M Cooper Rudy Van Coster Laurie A Demmer Luisa Diogo Alexander J Fay Can Ficicioglu Agata Fiumara William A Gahl Rebecca Ganetzky Himanshu Goel Lyndsay A Harshman Miao He Jaak Jaeken Philip M James Daniel Katz Liesbeth Keldermans Maria Kibaek Andrew J Kornberg Katherine Lachlan Christina Lam Joy Yaplito-Lee Deborah A Nickerson Heidi L Peters Valerie Race Luc Régal Jeffrey S Rush S Lane Rutledge Jay Shendure Erika Souche Susan E Sparks Pamela Trapane Amarilis Sanchez-Valle Eric Vilain Arve Vøllo Charles J Waechter Raymond Y Wang Lynne A Wolfe Derek A Wong Tim Wood Amy C Yang Gert Matthijs Hudson H Freeze

Hum Mutat 2016 07 21;37(7):653-60. Epub 2016 Mar 21.

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.

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July 2016

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

Authors:
John C K Barber Jill A Rosenfeld John M Graham Nancy Kramer Katherine L Lachlan Mark S Bateman Morag N Collinson Barbro Fossøy Stadheim Claire L S Turner Jacqueline N Gauthier Tyler E Reimschisel Athar M Qureshi Tabib A Dabir Mervyn W Humphreys Michael Marble Taosheng Huang Sarah J Beal Joanne Massiah Emma-Jane Taylor Sarah L Wynn

Am J Med Genet A 2015 Sep 11;167A(9):2052-64. Epub 2015 Jun 11.

Unique, Caterham, UK.

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September 2015

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

Authors:
Michael J Parker Alan E Fryer Deborah J Shears Katherine L Lachlan Shane A McKee Alex C Magee Shehla Mohammed Pradeep C Vasudevan Soo-Mi Park Valérie Benoit Damien Lederer Isabelle Maystadt Ddd Study David R FitzPatrick

Am J Med Genet A 2015 Oct 15;167A(10):2231-7. Epub 2015 Jun 15.

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine (I.G.M.M.), University of Edinburgh, UK.

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October 2015

Changes over time in sex assignment for disorders of sex development.

Authors:
Zofia Kolesinska S Faisal Ahmed Marek Niedziela Jillian Bryce Marta Molinska-Glura Martina Rodie Jipu Jiang Richard O Sinnott Ieuan A Hughes Feyza Darendeliler Olaf Hiort Yvonne van der Zwan Martine Cools Tulay Guran Paul-Martin Holterhus Silvano Bertelloni Lidka Lisa Wiebke Arlt Nils Krone Mona Ellaithi Antonio Balsamo Inas Mazen Anna Nordenstrom Katherine Lachlan Mona Alkhawari Pierre Chatelain Naomi Weintrob

Pediatrics 2014 Sep 4;134(3):e710-5. Epub 2014 Aug 4.

Pediatric Endocrinology and Diabetes Unit, Dana Children's Hospital, Tel Aviv, Israel; Sourasky Medical Center, Tel Aviv, Israel; and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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September 2014

Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes.

Authors:
Katherine L Lachlan

J Natl Cancer Inst 2013 Nov 17;105(21):1595-7. Epub 2013 Oct 17.

Affiliations of author: Wessex Clinical Genetics Service, University of Southampton Foundation NHS Trust, Southampton, UK; and Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southamption, UK.

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November 2013

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

Authors:
Aikaterini Dimopoulou Björn Fischer Thatjana Gardeitchik Phillipe Schröter Hülya Kayserili Claire Schlack Yun Li Jaime Moritz Brum Ingeborg Barisic Marco Castori Christiane Spaich Elaine Fletcher Zeina Mahayri Meenakshi Bhat Katta M Girisha Katherine Lachlan Diana Johnson Shubha Phadke Neerja Gupta Martina Simandlova Madhulika Kabra Albert David Leo Nijtmans David Chitayat Beyhan Tuysuz Francesco Brancati Stefan Mundlos Lionel Van Maldergem Eva Morava Bernd Wollnik Uwe Kornak

Mol Genet Metab 2013 Nov 24;110(3):352-61. Epub 2013 Aug 24.

Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Augustenburger Platz 1, Berlin, Germany.

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November 2013

Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.

Authors:
Rodney D Gilbert Priya Sukhtankar Katherine Lachlan Darren J Fowler

Pediatr Nephrol 2013 Nov 28;28(11):2217-20. Epub 2013 Apr 28.

Regional Paediatric Nephro-Urology Unit, University Hospital Southampton, Tremona Road, Southampton, SO16 6YD, UK,

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November 2013

New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.

Authors:
Cintia E Citterio Gloria A Machiavelli Mirta B Miras Laura Gruñeiro-Papendieck Katherine Lachlan Gabriela Sobrero Ana Chiesa Joanna Walker Liliana Muñoz Graciela Testa Fiorella S Belforte Rogelio González-Sarmiento Carina M Rivolta Héctor M Targovnik

Mol Cell Endocrinol 2013 Jan 16;365(2):277-91. Epub 2012 Nov 16.

Laboratorio de Genética y Biología Molecular, Instituto de Inmunología, Genética y Metabolismo, Hospital de Clínicas José de San Martín, C1120AAR Buenos Aires, Argentina.

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January 2013

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.

Authors:
Catherine L Mercer Katherine Lachlan Alexandra Karcanias Nabeel Affara Shuwen Huang Patricia A Jacobs N Simon Thomas

Eur J Med Genet 2013 Jan 8;56(1):1-6. Epub 2012 Oct 8.

Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital, Coxford Road, Southampton, UK.

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January 2013

PTEN mutations as a cause of constitutive insulin sensitivity and obesity.

Authors:
Aparna Pal Thomas M Barber Martijn Van de Bunt Simon A Rudge Qifeng Zhang Katherine L Lachlan Nicola S Cooper Helen Linden Jonathan C Levy Michael J O Wakelam Lisa Walker Fredrik Karpe Anna L Gloyn

N Engl J Med 2012 Sep;367(11):1002-11

Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford, United Kingdom.

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September 2012

Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.

Authors:
Judith Allanson Amanda Smith Heather Hare Beate Albrecht Emilia Bijlsma Bruno Dallapiccola Emilio Donti David Fitzpatrick Bertrand Isidor Katherine Lachlan Cedric Le Caignec Paolo Prontera Annick Raas-Rothschild Daniela Rogaia Bregje van Bon Swaroop Aradhya Susan F Crocker Olga Jarinova Jean McGowan-Jordan Kym Boycott Dennis Bulman Christina Ringmann Fagerberg

Am J Med Genet A 2012 Sep 20;158A(9):2091-9. Epub 2012 Jul 20.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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September 2012

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

Authors:
Siddharth Banka Ratna Veeramachaneni William Reardon Emma Howard Sancha Bunstone Nicola Ragge Michael J Parker Yanick J Crow Bronwyn Kerr Helen Kingston Kay Metcalfe Kate Chandler Alex Magee Fiona Stewart Vivienne P M McConnell Deirdre E Donnelly Siren Berland Gunnar Houge Jenny E Morton Christine Oley Nicole Revencu Soo-Mi Park Sally J Davies Andrew E Fry Sally Ann Lynch Harinder Gill Susann Schweiger Wayne W K Lam John Tolmie Shehla N Mohammed Emma Hobson Audrey Smith Moira Blyth Christopher Bennett Pradeep C Vasudevan Sixto García-Miñaúr Alex Henderson Judith Goodship Michael J Wright Richard Fisher Richard Gibbons Susan M Price Deepthi C de Silva I Karen Temple Amanda L Collins Katherine Lachlan Frances Elmslie Meriel McEntagart Bruce Castle Jill Clayton-Smith Graeme C Black Dian Donnai

Eur J Hum Genet 2012 Apr 30;20(4):381-8. Epub 2011 Nov 30.

Department of Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester, UK.

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April 2012

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

Authors:
Olivier Gribouval Vincent Morinière Audrey Pawtowski Christelle Arrondel Satu-Leena Sallinen Carola Saloranta Carol Clericuzio Géraldine Viot Julia Tantau Sophie Blesson Sylvie Cloarec Marie Christine Machet David Chitayat Christelle Thauvin Nicole Laurent Julian R Sampson Jonathan A Bernstein Alix Clemenson Fabienne Prieur Laurent Daniel Annie Levy-Mozziconacci Katherine Lachlan Jean Luc Alessandri François Cartault Jean Pierre Rivière Nicole Picard Clarisse Baumann Anne Lise Delezoide Maria Belar Ortega Nicolas Chassaing Philippe Labrune Sui Yu Helen Firth Diana Wellesley Martin Bitzan Ahmed Alfares Nancy Braverman Lotte Krogh John Tolmie Harald Gaspar Bérénice Doray Silvia Majore Dominique Bonneau Stéphane Triau Chantal Loirat Albert David Deborah Bartholdi Amir Peleg Damien Brackman Rosario Stone Ralph DeBerardinis Pierre Corvol Annie Michaud Corinne Antignac Marie Claire Gubler

Hum Mutat 2012 Feb 22;33(2):316-26. Epub 2011 Dec 22.

Inserm U983, Faculté de Médecine Paris Descartes, Université Paris Descartes, Paris, France.

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February 2012

King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Authors:
James J Dowling Suzanne Lillis Kimberley Amburgey Haiyan Zhou Safa Al-Sarraj Stefan J A Buk Elizabeth Wraige Gabby Chow Stephen Abbs Steven Leber Katherine Lachlan Diana Baralle Alexandra Taylor Caroline Sewry Francesco Muntoni Heinz Jungbluth

Neuromuscul Disord 2011 Jun 22;21(6):420-7. Epub 2011 Apr 22.

Division of Pediatric Neurology, Pediatric Neuromuscular Clinic, 5328 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, USA.

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June 2011

Autism, language and communication in children with sex chromosome trisomies.

Authors:
Dorothy V M Bishop Patricia A Jacobs Katherine Lachlan Diana Wellesley Angela Barnicoat Patricia A Boyd Alan Fryer Prisca Middlemiss Sarah Smithson Kay Metcalfe Deborah Shears Victoria Leggett Kate Nation Gaia Scerif

Arch Dis Child 2011 Oct 23;96(10):954-9. Epub 2010 Jul 23.

Department of Experimental Psychology, University of Oxford, Tinbergen Building, 2, South Parks Road, Oxford OX1 3UD, UK.

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October 2011

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy.

Authors:
Sacha Ferdinandusse Simon Barker Katherine Lachlan Marinus Duran Hans R Waterham Ronald J A Wanders Simon Hammans

J Neurol Neurosurg Psychiatry 2010 Mar;81(3):310-2

Laboratory Genetic Metabolic Diseases, F0-220, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.

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March 2010

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Authors:
Wilhelmina G Leen Joerg Klepper Marcel M Verbeek Maike Leferink Tom Hofste Baziel G van Engelen Ron A Wevers Todd Arthur Nadia Bahi-Buisson Diana Ballhausen Jolita Bekhof Patrick van Bogaert Inês Carrilho Brigitte Chabrol Michael P Champion James Coldwell Peter Clayton Elizabeth Donner Athanasios Evangeliou Friedrich Ebinger Kevin Farrell Rob J Forsyth Christian G E L de Goede Stephanie Gross Stephanie Grunewald Hans Holthausen Sandeep Jayawant Katherine Lachlan Vincent Laugel Kathy Leppig Ming J Lim Grazia Mancini Adela Della Marina Loreto Martorell Joe McMenamin Marije E C Meuwissen Helen Mundy Nils O Nilsson Axel Panzer Bwee T Poll-The Christian Rauscher Christophe M R Rouselle Inger Sandvig Thomas Scheffner Eamonn Sheridan Neil Simpson Parol Sykora Richard Tomlinson John Trounce David Webb Bernhard Weschke Hans Scheffer Michél A Willemsen

Brain 2010 Mar 2;133(Pt 3):655-70. Epub 2010 Feb 2.

Department of Neurology, Radboud University Nijmegen Medical Centre, 935 Neurology, PO BOX 9101, 6500 HB Nijmegen, The Netherlands.

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March 2010

Amniotic bands in paternal half-siblings.

Authors:
Moira Blyth Katherine Lachlan

Clin Dysmorphol 2010 Apr;19(2):62-4

Princess Anne Hospital, University of Southampton, UK.

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April 2010

Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4).

Authors:
N Simon Thomas Viv Maloney Victoria Bryant Shuwen Huang Carole Brewer Katherine Lachlan Patricia A Jacobs

Hum Genet 2009 Mar 24;125(2):181-8. Epub 2008 Dec 24.

Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, SP2 8BJ, UK.

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March 2009

Clinical and radiographic delineation of odontochondrodysplasia.

Authors:
Sheila Unger Franco Antoniazzi Milena Brugnara Yasemin Alanay Ahmet Caglayan Katherine Lachlan Shiro Ikegawa Gen Nishimura Bernhard Zabel Jürgen Spranger Andrea Superti-Furga

Am J Med Genet A 2008 Mar;146A(6):770-8

Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany.

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March 2008

Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.

Authors:
Kyu-Seon Oh Sikandar G Khan N G J Jaspers Anja Raams Takahiro Ueda Alan Lehmann Peter S Friedmann Steffen Emmert Alexi Gratchev Katherine Lachlan Anneke Lucassan Carl C Baker Kenneth H Kraemer

Hum Mutat 2006 Nov;27(11):1092-103

DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892-4258, USA.

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November 2006

Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.

Authors:
Claire Turner Katherine Lachlan Nishani Amerasinghe Peter Hodgkins Viv Maloney John Barber I Karen Temple

Eur J Hum Genet 2005 Jun;13(6):716-20

Wessex Clinical Genetics Service, Southampton University Hospital NHS Trust, Southampton, UK.

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June 2005

Functional disomy resulting from duplications of distal Xq in four unrelated patients.

Authors:
Katherine L Lachlan Morag N Collinson Richard O C Sandford Berendine van Zyl Patricia A Jacobs N Simon Thomas

Hum Genet 2004 Oct 24;115(5):399-408. Epub 2004 Aug 24.

Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, SO16 5YA, Southampton, UK.

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October 2004

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.

Authors:
Katherine L Lachlan I Karen Temple Andrew D Mumford

Eur J Hum Genet 2004 Oct;12(10):790-6

Wessex Clinical Genetics Service, Southampton University Hospitals NHS Trust, Southampton SO16 5YA, UK.

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October 2004