K. Lachlan
发表
J. Baptista,
Á. Rada-Iglesias,
M. Laugsch,
2018
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Tomas W. Fitzgerald,
M. Hurles,
J. Barrett,
2014,
Nature.
I. Temple,
K. Lachlan,
A. Mumford,
2006,
European journal of ophthalmology.
Sikandar G. Khan,
K. Lachlan,
A. Lehmann,
2006,
Human mutation.
Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
Robert Huether,
Rachid Karam,
Charis Eng,
2018,
Human mutation.
Patrick J. Short,
M. Hurles,
P. Danecek,
2018,
Nature Communications.
R. Hennekam,
B. Gener,
C. Turnbull,
2020,
Clinical genetics.
A. V. Vulto-van Silfhout,
W. Reardon,
N. Philip,
2012,
Molecular Syndromology.
Alessandro,
G. J. Swaminathan,
A. Green,
2019
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G. J. Swaminathan,
N. Carter,
M. Hurles,
2019,
American journal of human genetics.
D. Baralle,
F. Muntoni,
S. Al-Sarraj,
2011,
Neuromuscular Disorders.
Patrick J. Short,
M. Hurles,
P. Danecek,
2018,
bioRxiv.
K. Lachlan,
M. Tischkowitz,
W. Macken,
2019,
American journal of medical genetics. Part C, Seminars in medical genetics.
Adam C Gunning,
D. Baralle,
C. Mercer,
2020,
Genetics in Medicine.
K. Lachlan,
M. Lees,
J. Juusola,
2020,
American journal of medical genetics. Part A.
K. Lachlan,
2013,
Journal of the National Cancer Institute.
J. R. Wilson,
David M. Holden,
P. W. Foster,
2016,
British Journal of Cancer.
S. Twigg,
A. Wilkie,
H. Stewart,
2021,
Human mutation.
I. Temple,
K. Lachlan,
A. Lucassen,
2007,
Journal of Medical Genetics.
B. D. de Vries,
P. Fergelot,
W. Reardon,
2016,
American journal of medical genetics. Part A.
K. Lachlan,
R. Gilbert,
P. Sukhtankar,
2013,
Pediatric Nephrology.
A. Hoischen,
H. Brunner,
A. Mégarbané,
2018,
Clinical genetics.
I. Temple,
K. Lachlan,
A. Mumford,
2004,
European Journal of Human Genetics.
K. Nathanson,
J. Graham,
T. Pierson,
2019,
American journal of medical genetics. Part C, Seminars in medical genetics.
A. Need,
C. Tregidgo,
P. Furió-Tarí,
2020,
Genetics in Medicine.
J. Rosenfeld,
J. Barber,
J. Graham,
2015,
American journal of medical genetics. Part A.
E. Schröck,
C. Lázaro,
G. Capellá,
2020,
European Journal of Human Genetics.
J. Clayton-Smith,
M. Irving,
S. Holder,
2016,
American Journal of Medical Genetics. Part A.
R. G. C. C. L. Cardenas,
B. Dallapiccola,
K. Lachlan,
2016,
Genetics and molecular biology.
R. Deberardinis,
H. Firth,
J. Tolmie,
2012,
Human mutation.
B. V. van Bon,
J. Allanson,
S. Aradhya,
2012,
American journal of medical genetics. Part A.
A. Fry,
K. Lachlan,
R. Newbury-Ecob,
2020,
American journal of medical genetics. Part A.
J. Clayton-Smith,
M. Irving,
S. Holder,
2018
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K. Lachlan,
P. Turnpenny,
F. V. van Dijk,
2019,
American journal of medical genetics. Part A.
J. Tolmie,
K. Lachlan,
B. Kerr,
2013,
Clinical genetics.
Adam P. DeLuca,
Corey W. Goodman,
Bruce W. Tompkins,
2011,
Human mutation.
R. Holt,
P. Calvas,
N. Chassaing,
2018,
Human Genetics.
J. Clayton-Smith,
B. Lorenz,
I. Temple,
2016,
PloS one.
Stephen,
Anthony,
I..,
2016
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N. S. Thomas,
P. Jacobs,
K. Lachlan,
2005,
Human Genetics.
K. Lachlan,
S. Sakka,
J. Davies,
2020,
Clinical endocrinology.
K. Lachlan,
F. Darendeliler,
A. Nordenström,
2014,
Pediatrics.
K. Lachlan,
S. Poyrazoglu,
F. Darendeliler,
2021,
European journal of endocrinology.
Shuwen Huang,
C. Mercer,
N. S. Thomas,
2013,
European journal of medical genetics.
Tomas W. Fitzgerald,
G. J. Swaminathan,
J. Danesh,
2016,
Nature Genetics.
J. Baptista,
Á. Rada-Iglesias,
M. Laugsch,
2019,
Cell stem cell.
Rebecca C. Spillmann,
J. Rosenfeld,
R. Pfundt,
2019,
American journal of human genetics.
Joan,
Caroline,
Rajan,
2017,
Nature.
Patrick J. Short,
M. Hurles,
L. Vissers,
2020,
Nature.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2016,
bioRxiv.
Joshua C Randall,
G. J. Swaminathan,
A. Green,
2019
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R. Sandford,
N. S. Thomas,
P. Jacobs,
2004,
Human Genetics.
M. Hurles,
R. Sandford,
D. Baralle,
2020,
Nature Communications.
Shuwen Huang,
V. Maloney,
N. S. Thomas,
2009,
Human Genetics.
B. V. van Bon,
N. de Leeuw,
M. Fichera,
2009,
Journal of Medical Genetics.
S. Mundlos,
H. Kayserili,
D. Chitayat,
2013,
Molecular genetics and metabolism.
B. Weschke,
M. Verbeek,
G. Mancini,
2010,
Brain : a journal of neurology.
J. Rosenfeld,
A. V. Vulto-van Silfhout,
B. D. de Vries,
2019,
Biological Psychiatry.
J. Levy,
A. Gloyn,
F. Karpe,
2012,
The New England journal of medicine.
E. Seaby,
K. Lachlan,
S. Ennis,
2016,
Journal of Medical Genetics.
V. Maloney,
J. Barber,
K. Lachlan,
2005,
European Journal of Human Genetics.
M. B. Pereira,
A. Need,
D. Nickerson,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
A. Bayat,
H. Stewart,
K. Lachlan,
2020,
American journal of medical genetics. Part A.
K. Lachlan,
A. Lotery,
A. Taylor,
2012,
Journal of Clinical Neuroscience.
Luciana Rodrigues da Silva,
R. Holt,
P. Calvas,
2018,
Human Genetics.
W. Reardon,
A. Collins,
J. Clayton-Smith,
2011,
European Journal of Human Genetics.
Soo-Mi Park,
K. Lachlan,
D. Fitzpatrick,
2015,
American journal of medical genetics. Part A.
H. Brunner,
J. Hurst,
M. Digilio,
2021,
Genetics in Medicine.
Juan I. Young,
Rebecca C. Spillmann,
S. Nelson,
2020,
Genetics in Medicine.
D. Baralle,
C. Mercer,
S. Mehta,
2020,
Genetics in Medicine.
K. Lachlan,
M. Blyth,
2010,
Clinical dysmorphology.
K. Lachlan,
R. González-Sarmiento,
Cintia E. Citterio,
2013,
Molecular and Cellular Endocrinology.
J. Shendure,
D. Nickerson,
Martin Kircher,
2016,
Human mutation.
Dorothy V M Bishop,
Angela Barnicoat,
Kate Nation,
2010,
Archives of Disease in Childhood.
M. Fichera,
H. Mefford,
C. Romano,
2009
.
J. Clayton-Smith,
K. Lachlan,
J. Morton,
2019,
Clinical genetics.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2018,
Nature Communications.
Tomas W. Fitzgerald,
G. J. Swaminathan,
J. Danesh,
2016
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E. Zackai,
E. Roeder,
J. Clayton-Smith,
2019,
Genetics in Medicine.
R. G. C. C. L. Cardenas,
B. Dallapiccola,
K. Lachlan,
2016,
Genetics and molecular biology.
Shuwen Huang,
V. Maloney,
A. Collins,
2018,
American journal of medical genetics. Part A.
K. Lachlan,
R. González-Sarmiento,
J. Weill,
2022,
Endocrine.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2010,
Journal of Neurology, Neurosurgery & Psychiatry.
D. Baralle,
S. Mansour,
K. Lachlan,
2019,
American journal of medical genetics. Part C, Seminars in medical genetics.
A. Kolevzon,
E. Loth,
J. Beekhuyzen,
2023,
American journal of medical genetics. Part A.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2018,
American journal of human genetics.
K. Lachlan,
M. Parker,
S. Sharif,
2019,
American journal of medical genetics. Part A.
D. Baralle,
F. Muntoni,
S. Al-Sarraj,
2011,
Neuromuscular Disorders.
K. Lachlan,
R. Newbury-Ecob,
H. N. Hall,
2023,
Journal of Medical Genetics.
D. Koboldt,
P. Sulem,
A. O’Donnell-Luria,
2023,
medRxiv.
J. Clayton-Smith,
M. Irving,
S. Holder,
2016,
American journal of medical genetics. Part A.
E. Zackai,
E. Roeder,
J. Clayton-Smith,
2019,
Genetics in Medicine.
A. Kolevzon,
E. Loth,
F. Shic,
2023,
American journal of medical genetics. Part C, Seminars in medical genetics.