De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar SyndromeSIMPSON, Michael A; DESHPANDE, Charu; KANT, Sarina G et al.American journal of human genetics. 2012, Vol 90, Num 2, pp 290-294, issn 0002-9297, 5 p.Article

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and ChorioretinopathyOSTERGAARD, Pia; SIMPSON, Michael A; MARTINEZ-CORRAL, Ines et al.American journal of human genetics. 2012, Vol 90, Num 2, pp 356-362, issn 0002-9297, 7 p.Article

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin FragilityMCGRATH, John A; STONE, Kristina L; MARTINEZ, Anna E et al.American journal of human genetics. 2012, Vol 91, Num 6, pp 1115-1121, issn 0002-9297, 7 p.Article

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron DegenerationTSAOUSIDOU, Maria K; OUAHCHI, Karim; PATTON, Michael A et al.American journal of human genetics. 2008, Vol 82, Num 2, pp 510-515, issn 0002-9297, 6 p.Article

De Novo Mutations in MLL Cause Wiedemann-Steiner SyndromeJONES, Wendy D; DAFOU, Dimitra; DESHPANDE, Charu et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 358-364, issn 0002-9297, 7 p.Article

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndromeGRAY, Mary J; AE KIM, Chong; ROMEO BERTOLA, Debora et al.European journal of human genetics. 2012, Vol 20, Num 1, pp 122-124, issn 1018-4813, 3 p.Article

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthaseSIMPSON, Michael A; CROSS, Harold; PRYDE, Anna et al.Nature genetics. 2004, Vol 36, Num 11, pp 1225-1229, issn 1061-4036, 5 p.Article

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)OSTERGAARD, Pia; SIMPSON, Michael A; MURDAY, Victoria A et al.Nature genetics. 2011, Vol 43, Num 10, pp 929-931, issn 1061-4036, 3 p.Article

Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular PsoriasisONOUFRIADIS, Alexandros; SIMPSON, Michael A; CAPON, Francesca et al.American journal of human genetics. 2011, Vol 89, Num 3, pp 432-437, issn 0002-9297, 6 p.Article

Lethal Cystic Kidney Disease in Amish Neonates Associated With Homozygous Nonsense Mutation of NPHP3SIMPSON, Michael A; CROSS, Harold E; CROSS, Leroy et al.American journal of kidney diseases. 2009, Vol 53, Num 5, pp 790-795, issn 0272-6386, 6 p.Article

Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementiaSIMPSON, Michael A; CROSS, Harold; PROUKAKIS, Christos et al.American journal of human genetics. 2003, Vol 73, Num 5, pp 1147-1156, issn 0002-9297, 10 p.Article

Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotypeRECHER, Mike; KARJALAINEN-LINDSBERG, Marja-Liisa; ANTTILA, Pekka et al.Journal of allergy and clinical immunology. 2014, Vol 133, Num 5, pp 1462-1465, issn 0091-6749, 4 p.Article

PSENEN and NCSTN Mutations in Familial Hidradenitis Suppurativa (Acne Inversa)PINK, Andrew E; SIMPSON, Michael A; BRICE, Glen W et al.Journal of investigative dermatology. 2011, Vol 131, Num 7, pp 1568-1570, issn 0022-202X, 3 p.Article

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone lossSIMPSON, Michael A; IRVING, Melita D; KIM, Katherine H et al.Nature genetics. 2011, Vol 43, Num 4, pp 303-305, issn 1061-4036, 3 p.Article

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegiaREED, Johanna A; WILKINSON, Phillip A; PATEL, Heema et al.Neurogenetics (Oxford. Print). 2005, Vol 6, Num 2, pp 79-84, issn 1364-6745, 6 p.Article

Mutations in the γ-Secretase Genes NCSTN, PSENEN, and PSEN1 Underlie Rare Forms of Hidradenitis Suppurativa (Acne Inversa)PINK, Andrew E; SIMPSON, Michael A; DESAI, Nemesha et al.Journal of investigative dermatology. 2012, Vol 132, Num 10, pp 2459-2461, issn 0022-202X, 3 p.Article

Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb AnomaliesSOUTHGATE, Laura; MACHADO, Rajiv D; YI HE et al.American journal of human genetics. 2011, Vol 88, Num 5, pp 574-585, issn 0002-9297, 12 p.Article

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotypeOSTERGAARD, Pia; SIMPSON, Michael A; TREMBATH, Richard et al.Journal of medical genetics. 2011, Vol 48, Num 4, pp 251-255, issn 0022-2593, 5 p.Article

Defective Mitochondrial mRNA Maturation Is Associated with Spastic AtaxiaCROSBY, Andrew H; PATEL, Heema; REED, Johanna A et al.American journal of human genetics. 2010, Vol 87, Num 5, pp 655-660, issn 0002-9297, 6 p.Article